Publications by authors named "Vahid Ziaee"

117 Publications

Peripheral Gangerene, an Unusual Presentation of Infantile Kawasaki: A Case Report and Literature Review.

Case Rep Rheumatol 2021 13;2021:6629405. Epub 2021 Apr 13.

Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: Diagnosing infantile Kawasaki disease with atypical symptoms is difficult, and it also has higher risk of coronary abnormalities which is one of the most common complications of KD. Other complications such as pericardial effusion, mitral insufficiency, congestive heart failure, myocardial systolic dysfunction, and systemic vasculitis were also reported. Peripheral gangrene and necrosis are among the rare complications of this systemic vasculitis. . We report an 8-month-old girl with prolonged fever, generalized petechial rash, cracked erythematous lips, edema, and coronary ectasia who received two doses of IVIG in another center, but short after her discharge, she started to develop a necrotic plaque on her knee. She was admitted in our hospital, and the repeat echocardiography showed sustained coronary ectasia. She received 3 doses of methylprednisolone pulse therapy and was discharged with aspirin and prednisolone. In the follow-up visits, the coronary ectasia was resolved and the necrotic ulcer was healing with a scar.

Conclusions: The diagnosis of Kawasaki disease and echocardiographic evaluation of the coronary arteries should be considered in young infants with prolonged fever of unknown origin. Peripheral gangrene is a rare but important complication of infantile Kawasaki disease, although the exact mechanism in not fully understood.
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http://dx.doi.org/10.1155/2021/6629405DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8057904PMC
April 2021

Multimodality imaging of constrictive pericarditis in H syndrome.

Echocardiography 2021 Apr 26. Epub 2021 Apr 26.

Rajaie Cardiovascular Medical and Research Center, Niayesh Highway, Tehran, Iran.

This is the first report of constrictive pericarditis (CP) in a 16-year-old boy with H syndrome with pericardial involvement predominantly over the right ventricle with favorable response to anti-inflammatory treatment. H syndrome, first reported in 2008, is a new auto-inflammatory syndrome with multiorgan involvement due to mutation in the SLC29A3 gene. We described the echocardiographic characteristics of asymmetric pericardial involvement and presented the cardiac computed tomography angiographic and magnetic resonance imaging findings. We reviewed the echocardiographic signs of CP, introduced tricuspid E/A respiratory alternans as a novel echocardiographic sign of right ventricular dominant CP, and explained the underlying mechanism.
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http://dx.doi.org/10.1111/echo.15027DOI Listing
April 2021

Clinical Misdiagnosis of COVID-19 Infection with Confusing Clinical Course.

Case Rep Infect Dis 2021 31;2021:6629966. Epub 2021 Mar 31.

Pediatric Department, Pediatric Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Background: Similarities in the febrile course and other manifestations of some diseases may lead to clinical misdiagnosis of COVID-19 infection. Here, we report a case in a young child with a potentially confusing clinical course. . A 29-month-old boy presented with a 2-month history of fever. His PCR test for COVID-19 was positive, and there was pleural effusion plus positive findings in the lower left lobe of the lung on computed tomography scan. Mid-sized splenomegaly was found on abdominal ultrasound, and laboratory tests disclosed pancytopenia. In light of the atypical lymphocyte counts in laboratory tests, he underwent bone marrow aspiration. The suggested diagnosis was hemophagocytic lymphohistiocytosis, and prednisolone was initiated. Subsequently, Leishman-Donovan bodies were seen in the bone marrow aspirate, and treatment was started with amphotericin, which led to clinical improvement.

Conclusion: In cases with vague clinical symptoms in tropical countries where other infectious diseases occur, possible simultaneous infection should be considered even during a pandemic. Familiarity with the possible differential diagnoses and appropriate, step-by-step consideration to rule out other possible causes are needed in all situations, and the coexistence of infectious disease should be considered in evaluating the clinical conditions of patients in tropical countries.
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http://dx.doi.org/10.1155/2021/6629966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8014250PMC
March 2021

Phenotypic analysis of Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis patients during treatment.

Rheumatology (Oxford) 2021 Mar 8. Epub 2021 Mar 8.

KU Leuven, Department of Microbiology and Immunology, Leuven, Belgium.

Objective: In 2016 specific heterozygous gain-of-function mutations in MEFV were reported causal for a distinct autoinflammatory disease coined pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). We sought to provide an extended report on clinical manifestations in PAAND patients to date and evaluate the efficacy and safety of treatment with the IL-1-blocking agent anakinra.

Methods: We undertook an open-label pilot study with anakinra. Three patients were recruited in a preliminary phase of the study with the intention to expand the treatment cohort in case of a favorable response. Acute phase reactants and plasma cytokine levels were monitored throughout. Skin biopsies at baseline and at week 12 were stained for relevant cytokines. Available clinical data on treatment responses were retrospectively collected on additional patients.

Results: The three patients from the preliminary phase of the study (P1-P3) demonstrated 1 failed and 2 partial treatment responses, where one patient opted to continue treatment with anakinra and the other favored adalimumab. While a partial systemic response was observed, there was no appreciable effect of anakinra on the prominent cutaneous manifestations, reflected in residual local inflammatory cytokine expression in lesional skin. These observations did not warrant further expansion of the treatment cohort. Clinical data was retrospectively collected on an additional 8 patients (P4-P11), highlighting both dominant and recessive inheritance with variable penetrance in PAAND and common gastrointestinal involvement not previously appreciated.

Conclusion: In our experience, while anakinra appears safe, it was not superior to biologicals targeting TNFα in PAAND despite evidence directly implicating dysregulated IL-1β signalling.
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http://dx.doi.org/10.1093/rheumatology/keab221DOI Listing
March 2021

Griscelli Syndrome Type 2 Sine Albinism: Unraveling Differential RAB27A Effector Engagement.

Front Immunol 2020 10;11:612977. Epub 2020 Dec 10.

Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences (TUMS), Tehran, Iran.

Griscelli syndrome type 2 (GS-2) is an inborn error of immunity characterized by partial albinism and episodes of hemophagocytic lymphohistiocytosis (HLH). It is caused by mutations that encode RAB27A, a member of the Rab GTPase family. RAB27A is expressed in many tissues and regulates vesicular transport and organelle dynamics. Occasionally, GS-2 patients with mutation display normal pigmentation. The study of such variants provides the opportunity to map distinct binding sites for tissue-specific effectors on RAB27A. Here we present a new case of GS-2 without albinism (GS-2 sine albinism) caused by a novel missense mutation (Val143Ala) in the RAB27A and characterize its functional cellular consequences. Using pertinent animal cell lines, the Val143Ala mutation impairs both the RAB27A-SLP2-A interaction and RAB27A-MUNC13-4 interaction, but it does not affect the RAB27A-melanophilin (MLPH)/SLAC2-A interaction that is crucial for skin and hair pigmentation. We conclude that disruption of the RAB27A-MUNC13-4 interaction in cytotoxic lymphocytes leads to the HLH predisposition of the GS-2 patient with the Val143Ala mutation. Finally, we include a review of GS-2 sine albinism cases reported in the literature, summarizing their genetic and clinical characteristics.
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http://dx.doi.org/10.3389/fimmu.2020.612977DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7758216PMC
December 2020

Multisystem inflammatory syndrome associated with SARS-CoV-2 infection in 45 children: a first report from Iran.

Epidemiol Infect 2020 08 28;148:e196. Epub 2020 Aug 28.

Pediatric Infectious Disease Research Center, Tehran University of Medical Sciences, Tehran, Iran.

During the coronavirus disease 2019 (COVID-19) pandemic, a new phenomenon manifesting as a multisystem inflammatory syndrome in children (MIS-C) which has a similar clinical presentation to Kawasaki disease, toxic shock syndrome and severe sepsis has emerged. Although the number of MIS-C reports is increasing, rare reports in Asia is still available. To our knowledge, this study is the largest series of published MIS-C cases in Iran. We performed a retrospective study of all patients with case definition for MIS-C admitted to the three paediatric hospitals in Iran. All of these hospitals are located within the most active COVID-19 pandemic areas (Tehran, Qom and Mazandaran) in Iran. Demographic characteristics, clinical data, laboratory findings, imaging and echocardiographic findings, treatment and outcomes were collected. Between 7 March and 23 June 2020, 45 children were included in the study. The median age of children was 7 years (range between 10 months and 17 years). Common presenting symptoms include fever (91%), abdominal pain (58%), nausea/vomiting (51%), mucocutaneous rash (53%), conjunctivitis (51%) and hands and feet oedema (40%) with median duration of symptoms prior to presentation of 5 (interquartile range (IQR) 3, 7) days. Fifty-three percent of children showed lymphopaenia. Overall, the majority of cases at admission had markedly elevated inflammatory markers erythrocyte sedimentation rate (ESR) (95.5%) and C-reactive protein (CRP) (97%). Ferritin was abnormal in 11 out of 14 tested patients (73%), and it was highly elevated (>500 ng/ml) in 47% of cases. Median fibrinogen level was 210 (IQR 165, 291) mg/dl, D-dimer was 3909 (IQR 848, 4528) ng/ml and troponin was 0.6 (IQR 0.1, 26) ng/ml, respectively. Twenty out of 31 patients (64.5%) had hypoalbuminaemia. In addition, hyponatraemia was found in 64% of cases. Twenty-five patients (56%) presented with cardiac involvement and acute renal failure was observed in 13 cases (29%). Pleural, ascitic, ileitis and pericardial effusions were found in 18%, 11%, 4% and 2% of cases, respectively. In conclusion, this is a first large case series of hospitalised children who met criteria for MIS-C in Iran. There was a wide spectrum of presenting signs and symptoms; evidence of inflammation with abnormal values of CRP, ESR, D-dimer, ferritin and albumin; and multi-organ involvement.
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http://dx.doi.org/10.1017/S095026882000196XDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7484297PMC
August 2020

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation.

J Exp Med 2020 12;217(12)

Department of Pediatrics, King Abdulaziz Medical City, King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.

The Nck-associated protein 1-like (NCKAP1L) gene, alternatively called hematopoietic protein 1 (HEM-1), encodes a hematopoietic lineage-specific regulator of the actin cytoskeleton. Nckap1l-deficient mice have anomalies in lymphocyte development, phagocytosis, and neutrophil migration. Here we report, for the first time, NCKAP1L deficiency cases in humans. In two unrelated patients of Middle Eastern origin, recessive mutations in NCKAP1L abolishing protein expression led to immunodeficiency, lymphoproliferation, and hyperinflammation with features of hemophagocytic lymphohistiocytosis. Immunophenotyping showed an inverted CD4/CD8 ratio with a major shift of both CD4+ and CD8+ cells toward memory compartments, in line with combined RNA-seq/proteomics analyses revealing a T cell exhaustion signature. Consistent with the core function of NCKAP1L in the reorganization of the actin cytoskeleton, patients' T cells displayed impaired early activation, immune synapse morphology, and leading edge formation. Moreover, knockdown of nckap1l in zebrafish led to defects in neutrophil migration. Hence, NCKAP1L mutations lead to broad immune dysregulation in humans, which could be classified within actinopathies.
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http://dx.doi.org/10.1084/jem.20192275DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7526481PMC
December 2020

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity.

Sci Immunol 2020 07;5(49)

St. Anna Children's Cancer Research Institute (CCRI), Vienna, Austria.

The WAVE regulatory complex (WRC) is crucial for assembly of the peripheral branched actin network constituting one of the main drivers of eukaryotic cell migration. Here, we uncover an essential role of the hematopoietic-specific WRC component HEM1 for immune cell development. Germline-encoded HEM1 deficiency underlies an inborn error of immunity with systemic autoimmunity, at cellular level marked by WRC destabilization, reduced filamentous actin, and failure to assemble lamellipodia. Hem1 mice display systemic autoimmunity, phenocopying the human disease. In the absence of Hem1, B cells become deprived of extracellular stimuli necessary to maintain the strength of B cell receptor signaling at a level permissive for survival of non-autoreactive B cells. This shifts the balance of B cell fate choices toward autoreactive B cells and thus autoimmunity.
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http://dx.doi.org/10.1126/sciimmunol.abc3979DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7116756PMC
July 2020

Post-mortem Diagnosis of Heme Oxygenase-1 Deficiency by Whole Exome Sequencing in an Iranian Child.

Int J Mol Cell Med 2019 ;8(4):300-307

Department of Pediatrics, Tehran University of Medical Sciences,Tehran, Iran.

Heme oxygenase-1 (HO-1) is an inducible enzyme involved in the catalysis of heme conversion into biliverdin. We describe a patient with a novel stop-gain mutation in the coding sequence resulting in HO-1 deficiency. A 17-month-old female with fever, tachypnea, and signs of respiratory distress was referred to our center. Four admissions ensued during the eight months follow up. At the first admission, she had massive pericardial effusion without any laboratory findings for tuberculosis, viral infectionsor malignancies.An abdominal ultrasound examination confirmed hepatomegaly.Laboratory findings showed leukocytosis, thrombocytosis, hemolytic anemia, elevated inflammatory markers, increased levels of the hepatic transferase, triglycerides and ferritin as well as decreased level of fibrinogen. Other laboratory investigations were negative blood cultures, normal bone marrow aspiration, and normal serology viral infections. Immunodeficiency and auto-inflammatory syndromes were ruled out. Hepatic biopsy showed iron deposits. The patient was initiated on corticosteroids; however, her clinical condition was progressively deteriorated, and she died of recurrent fever, bleeding, heart failure, and ascites. Post-mortem whole exome sequencing revealed a homozygous mutation (exon3: c.A610T, p.K204X) on the gene. The parents were found to be heterozygous for that mutation. The laboratory findings and clinical features of our patient were somehow similar to that of HO-1 deficient cases reported previously, as well as knocked out mice. We speculate that the clinical manifestations of HO-1 deficient patients can be partially dependent on the type of mutation they inherit.
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http://dx.doi.org/10.22088/IJMCM.BUMS.8.4.300DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7305464PMC
January 2019

DNA Methylation of CD70 Promoter in Juvenile Systemic Lupus Erythematosus.

Fetal Pediatr Pathol 2020 May 19:1-10. Epub 2020 May 19.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Introduction: Epigenetic alterations in pathogenesis of systemic lupus erythematosus (SLE) have gained more attention recently in adults. We assessed the methylation of CD70 promoter, a costimulatory molecule on T cells, in juvenile SLE (JSLE), and compared this to that found in controls and the literature of adult SLE patients.

Methods: DNA methylation status was evaluated on peripheral blood from JSLE patients and healthy controls.

Results: Twenty-five patients with JSLE and 24 healthy controls were compared. JSLE patients had lower unmethylated CpG islands compared to the control group (mean ± SD; 0.78 ± 0.42 vs 10503.80 ± 39796.95). However, the difference was not significant (P-value; 0.22).

Conclusion: Despite hypomethylation of CD70 gene promoter in CD4+ T-cells from adult patients with SLE, no statistically significant differences observed in patients with JSLE compared with healthy controls. This may suggest a mechanism different in JSLE patients than in adults.
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http://dx.doi.org/10.1080/15513815.2020.1764681DOI Listing
May 2020

The Comparison of Nailfold Capillaroscopy between Juvenile Systemic Lupus Erythematosus and Healthy Controls: Correlation with Laboratory and Clinical Parameters.

Int J Vasc Med 2020 27;2020:7631958. Epub 2020 Apr 27.

Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

Background: Nailfold capillaroscopy is a noninvasive technique to recognize peripheral microangiopathy, which is an important feature in systemic lupus erythematosus (SLE). The aims of the present study were to investigate the prevalence of nailfold capillaroscopy (NFC) changes in juvenile systemic lupus erythematosus (JSLE), find out patterns of these changes, and correlate findings with clinical and laboratory parameters.

Methods: Forty-nine patients with SLE, all meeting the 1997 revised ACR criteria for SLE classification, and 30 healthy controls were included. A digital video camera was used to capture nailfold capillary images. Computerized image processing was used for analysis.

Results: Different abnormal NFC changes were observed with abnormal morphology, the increased diameter and abnormal loop densities in 55.1%, 93.9%, and 26.5% of the patients, respectively. No statistically significant differences were depicted between capillaroscopy with age, gender, autoantibodies (APLs, anti-ds DNA), antiphospholipid antibody syndrome, thrombotic angiopathy, renal function tests (Bun, Cr), and abnormal urine analysis. However, a significant correlation was found between the branched pattern and the CNS involvement group ( value <0.03).

Conclusions: Different abnormal NFC changes are quite common among patients with SLE, and nailfold capillaroscopy is an effective method to monitor such changes. Treatment strategies may change in the branched pattern of nailfold capillaroscopy due to CNS involvement.
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http://dx.doi.org/10.1155/2020/7631958DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201806PMC
April 2020

Giant Thrombosis at Left Anterior Descending Artery Aneurysm in a 10-Year Old Boy with Granulomatosis with Polyangiitis.

Case Rep Cardiol 2020 19;2020:3417910. Epub 2020 Apr 19.

Department of Pediatrics, Tehran University of Medical Science, Tehran, Iran.

Granulomatosis with polyangiitis (GPA), necrotizing vasculitis of small and medium-sized vessels, is traditionally believed to mainly affect respiratory tract with additional focal kidney involvements as its primary manifestations with a relatively rare annual incidence rate of 20-50 cases per million. Six percent of the affected cases have cardiac involvements; among which, aneurysms comprise the lowest penetrance. By this paper, we aim to cast light on clinical diagnostic and treatment methods of a rare case presentation, a 10-year-old male GPA patient, diagnosed with massive thrombosis at his coronary artery aneurysm. GPA should be considered as differential diagnosis of prolong fever and coronary aneurysms in adolescents.
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http://dx.doi.org/10.1155/2020/3417910DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7193272PMC
April 2020

Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA).

J Clin Immunol 2020 05 13;40(4):637-642. Epub 2020 Mar 13.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College at Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

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http://dx.doi.org/10.1007/s10875-020-00767-wDOI Listing
May 2020

Mucopolysaccharidosis Type I in Children, a Forgotten Diagnosis Responsible for Undiagnosed Musculoskeletal Complaints: Report of Two Cases.

Acta Medica (Hradec Kralove) 2019 ;62(4):161-165

Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

Mucopolysaccharidoses (MPS) are a subgroup of lysosomal storage disorders. The underlying mechanism of MPS disorders are deficiency in specific enzymes which leads to accumulation of partially degraded glycosaminoglycans (GAGs) in various tissues. A wide variety of manifestations are reported but musculoskeletal complaints are common among them. In milder forms of MPS, musculoskeletal complaints are presenting symptoms. Delays in diagnosis due to unspecific and mild symptoms is common. Misdiagnosis of MPS as juvenile idiopathic arthritis and other inflammatory arthritis disorders is frequent. Early diagnosis and treatment prevents irreversible cellular damages and is a key factor in efficacy of enzyme replacement therapy. In this study we described two MPS patients with musculoskeletal complaints who were not diagnosed for a period of time. Although musculoskeletal manifestation are common in a variety of clinical conditions, their presence at low ages or co-occurrence of other manifestations (such as cardiac, respiratory, neurologic, etc.) in multiple systems should prompt evaluation of patients for MPS and other metabolic disorders. The rheumatologists' awareness on MPS should be promoted to achieve timely diagnosis and subsequent early treatment.
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http://dx.doi.org/10.14712/18059694.2020.6DOI Listing
July 2020

Increased QT Interval Dispersion is Associated with Coronary Artery Involvement in Children with 
Kawasaki Disease.

Oman Med J 2020 Jan 19;35(1):e88. Epub 2020 Jan 19.

Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

Objectives: Coronary artery (CA) involvement is the most well known complication of Kawasaki disease (KD). Previous studies have suggested that QT dispersion has a predictive value in diagnosing cardiac ischemia, ventricular arrhythmia, and sudden cardiac death. However, limited data exits regarding the application of QT dispersion in KD. Therefore, we sought to determine whether there is a relationship between QT dispersion and CA involvement in patients with KD.

Methods: We performed a cross-sectional study of all consecutive patients with KD who were followed-up at the Pediatric Rheumatology Department (Pediatrics Center of Excellence affiliated to Tehran University of Medical Sciences, Tehran, Iran) from September 2013 to November 2015. Patients who met the criteria for KD, based on the American Heart Association guideline, were enrolled in the study. We collected data regarding patients' demographics, clinical manifestations, laboratory, and echocardiographic findings.

Results: A total of 70 KD patients were identified, including 43 males (61.4%) and 27 females (38.6%). The median age of patients was 21.0 (11.0-48.0) months. We found statistically significant differences between age, gender, and platelet count among patients with and without CA involvement ( < 0.050). Median corrected QT dispersion in patients with CA involvement calculated from 12 leads in the acute phase was significantly higher compared to the non-CA involvement group (108.0 (89.5-138.5) ms vs. 63.0 (54.0-74.5) ms, respectively ( < 0.001)).

Conclusions: Prolonged QT dispersion (corrected or non-corrected) during the acute and convalescence phases in patients with KD is associated with coronary involvement.
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http://dx.doi.org/10.5001/omj.2020.06DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6975257PMC
January 2020

Interleukin 10 and Transforming Growth Factor Beta Polymorphisms as Risk Factors for Kawasaki Disease: A Case-Control Study and Meta-Analysis.

Avicenna J Med Biotechnol 2019 Oct-Dec;11(4):325-333

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Background: Alteration in serum expression of Transforming Growth Factor-beta (TGF-β) and IL-10 have been suggested to play a role in the pathogenesis of Kawasaki Disease (KD). Inconsistent reports exist on the association of IL-10 polymorphisms with KD susceptibility and Coronary Artery Aneurysms (CAA).

Methods: A number of 110 paediatric patients with KD and 140 healthy individuals were recruited to investigate the frequency of Single Nucleotide Polymorphisms (SNPs) of TGF-β C/T at codon 10 (rs1982073), C/G at codon 25 (rs1800471) and IL-10 A/G at -1082 (rs1800896), C/T at -819 (rs1800871) and A/C at -592 (rs1800872) and their respective genotype and haplotypes. A comprehensive search was performed in MEDLINE and SCOPUS using the keywords of interleukin 10, transforming growth factor beta, and Kawasaki disease. Moreover, previous studies investigating the TGF-β and IL-10 polymorphisms in KD were evaluated. Review Manager Version 5.1 Software was used to perform meta-analysis.

Results: There was no significant association between allelic or genotypic variants in the mentioned polymorphisms in TGF-β or IL-10 with KD or CAA. The only significant haplotypic variant was TC variant at codon 10, and 25 of TGF-β polymorphisms were associated with higher risk of KD. Meta-analysis of a total number of 770 patients 1471 healthy controls showed no difference in the frequency of any of the IL-10 genetic variants in KD patients, regardless of the presence of CAA.

Conclusion: Polymorphisms of TGF-β or IL-10 are not associated with additional risk for KD in Iranian population. IL-10 polymorphisms at -1082, -819 and -592 positions are not associated with KD, nor do they predict coronary artery aneurysm formation.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925396PMC
January 2020

Farber disease: report of three cases with joint involvement mimicking juvenile idiopathic arthritis.

J Musculoskelet Neuronal Interact 2019 12;19(4):521-525

Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.

Farber disease is a rare recessive autosomal disorder presented with three main features of joint involvement, subcutaneous nodules and hoarseness. Hereby we describe three new cases of Farber disease. All three cases were first misdiagnosed as juvenile idiopathic arthritis (JIA) due to the presentation of joint swelling. Addition of hoarseness and subcutaneous nodules to the initial joint swelling questioned the diagnosis of JIA and further evaluations led to the diagnosis of Farber disease. The first case was a 4-year old girl in whom a novel genetic mutation in ASAH1 gene was found. The second patient was a 4-year old girl presented with joint swelling at 7 month of age. The third patient was a 9-month boy complicated with severe respiratory distress. All patients were treated with symptomatic and supportive care. Two cases died due to respiratory ailure and infection, but one patient follow up for 2 years after diagnosis. Farber disease should be considered as differential diagnosis in children with early onset of poly articular involvement with subcutaneous nodules and/or hoarseness.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944811PMC
December 2019

Gene Polymorphisms in Pediatric Systemic Lupus Erythematosus.

Fetal Pediatr Pathol 2020 Feb 24;39(1):13-20. Epub 2019 Jun 24.

School of Medicine, Department of Immunology, Tehran University of Medical Sciences, Tehran, Iran (the Islamic Republic of).

: Pediatric systemic lupus erythematosus (PSLE) is a heterogeneous autoimmune disorder of unknown origin. gene polymorphisms have been associated with SLE in different populations. We investigated the associations of the rs2476601, rs1217414, rs33996649, rs1276457, and rs1310182 SNPs in the gene with PSLE. 55 PSLE patients and 93 healthy controls were recruited. SNPs were genotyped by the real-time PCR allelic discrimination method. We found that the polymorphisms rs1310182 A allele ( = 0.01, OR = 1.92 95% CI = 1.16-3.18), and rs1310182 AA genotype with ( < 0.001) and rs12760457 TT ( = 0.046) were associated with PSLE. No significant associations were found between other SNPs and PSLE. The rs1310182 A allele and rs1310182 AA genotype were associated with PSLE and may be a possible genetic marker for susceptibility to PSLE. However, further investigation would be required to elucidate the mechanistic role of this association.
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http://dx.doi.org/10.1080/15513815.2019.1630873DOI Listing
February 2020

A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis.

J Clin Immunol 2019 01 5;39(1):11-14. Epub 2019 Jan 5.

Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

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http://dx.doi.org/10.1007/s10875-018-0586-8DOI Listing
January 2019

Direct Immunofluorescence Results of the Skin Biopsy and Frequency of Systemic Involvement in Children with Henoch-Schonlein Purpura.

Fetal Pediatr Pathol 2019 Apr 2;38(2):121-126. Epub 2019 Jan 2.

b Department of Pathology , Tehran University of Medical Sciences , Tehran , Iran.

Objective: Henoch-Schonlein purpura (HSP) is a common vasculitis in children that can present with multi-organ involvement. The aim of this study is to investigate the correlation between direct immunofluorescence (DIF) results and the systemic involvements of the HSP in pediatric patients.

Material And Methods: Those HSP patients with leukocytoclastic vasculitis on their biopsies who also had documented immunoglobulin/complement deposition by DIF were included in our study. Their demographic and laboratory data and clinical manifestations were recorded and analyzed.

Results: Medical records of 95 patients (1.5-15 years old) were studied. 26.3% of the patients showed renal, 86.3% articular, and 70.3% gastrointestinal involvement. The risk of renal involvement was significantly higher in those with C3 deposition in their skin DIF. IgM deposition was mostly associated with articular involvement.

Conclusion: Pediatric HSP patients who had C3 deposition in their skin DIF should be selected for further evaluation regarding HSP nephritis.
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http://dx.doi.org/10.1080/15513815.2018.1552733DOI Listing
April 2019

Familial Mediterranean Gene (MEFV) Mutation in Parents of Children with Familial Mediterranean Fever: What Are the Exceptions?

Int J Inflam 2018 1;2018:1902791. Epub 2018 Oct 1.

Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Sciences, Tehran, Iran.

Objectives: Familial Mediterranean Fever (FMF) is one of the most prevalent periodic fever syndromes; MEFV, the responsible gene for the disease, is in the short arm of chromosome16. In the considerable count of the FMF patients, only one mutation is found in the MEFV and parents, who were the obligatory carriers for that mutation, were asymptomatic. The aim of this study was to evaluate these asymptomatic parents in regard to mutation in MEFV gene and similarity between parents and offspring patients.

Methods: In this cross-sectional study, asymptomatic parents of FMF patients enrolled the study were referred to periodic fever clinic or pediatric rheumatology clinic of Tehran University of Medical Sciences. The patients should have at least one mutation in MEFV gene and none of them had any family history of autoinflammatory disease. Twelve mutations in MEFV gene were assessed in the parents by Vienna Lab FMF Strip Assay kit by MAS PCR/Reverse hybridization.

Results: Forty-three patients and their parents participated in the study. Sixty-three percent (27) of patients were male. Onset of disease symptoms in 31 patients (72%) was before 4 years of old. Nine (21%) of the patients had homozygote, 16 (37%) compound heterozygote, and 17(40%) heterozygote for MEFV mutation; there was a case of complex alleles mutations (2%). M694V/M694V in 4 patients (9%) was the most homozygote genotype, and M694V/R761H in 4 (9%) and E148Q in 7 (16%) were the most compound heterozygote and heterozygote genotype, respectively. M694V, M680I, and E148Q were the most mutation in the parents. Overall, 41 patients had mutations similar to their parents' mutation, except 2 whose parents had no mutation, but a patient did.

Conclusion: It seems that occurrence of new mutations in offspring is not prevalent among FMF patients and there are other reasons for different clinical presentation in similar mutation carriers. On the other hand, in ethnicities with high prevalence of FMF, new mutation in descendant may occur, infrequently.
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http://dx.doi.org/10.1155/2018/1902791DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191955PMC
October 2018

Neuropsychiatric Involvement in Juvenile-Onset Systemic Lupus Erythematosus.

Neurol Res Int 2018 29;2018:2548142. Epub 2018 May 29.

Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.

Objective: Systemic lupus erythematosus (SLE) is a complex autoimmune disorder characterized by multisystem involvement, including the nervous system. In the present study, we aimed to assess neuropsychiatric manifestations in juvenile-onset systemic lupus erythematosus (JSLE) in Iran.

Methods: One hundred and forty-six pediatric onset patients with SLE who had registered in our pediatric rheumatology database were evaluated prospectively and cross sectionally within 2013-2015. Data including sex, age, age at the time of diagnosis, age at the time of study, physical examination, laboratory review, and neuropsychiatric inventory were extracted from this database. Classification of neuropsychiatric JSLE was according to the 1999 American College of Rheumatology (ACR) neuropsychiatric manifestations of SLE case definitions.

Result: A total number of 41 patients with neuropsychiatric symptoms were selected. The patients' average age was 12.2 years. The most common neuropsychiatric symptoms were seizures, migraine, and depression. The mean age at the onset of symptoms was 10.2 ± 3 years. Mean follow-up period was 57±34 (range: 12-120) months. From 41 SLE patients, 18 (43.9) presented symptoms at the time of diagnosis. In thirteen (31.7%) patients, neurological symptoms were developed more than 1 year after SLE diagnosis. Headache was the most common feature (13%), followed by seizure (9.5%) and chorea (3.4%). Other neurological manifestations included cranial nerve involvement (0.7%), loss of consciousness (2.7%), and impaired deep tendon reflex neuropathy (2.5%). The least common neuropsychiatric JSLE manifestation was aseptic meningitis seen in only one patient (0.7%).

Conclusion: The presence of headache, mood disorders, psychosis, depression, and other neuropsychological manifestations in a patient with JSLE should prompt investigations into diagnosis of the primary nervous system involvement in order to reduce mortality and morbidity.
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http://dx.doi.org/10.1155/2018/2548142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5996412PMC
May 2018

Prevalence of Family History of Autoimmune Disorders in Juvenile Systemic Lupus Erythematosus.

Maedica (Bucur) 2018 Mar;13(1):21-24

Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.

One of the causes of infants' hospitalizations is bronchiolitis, while different viral agents could be causative agents. As there is little information regarding the common agents of bronchiolitis in Iranian infants, we designed this study to determine which agents were responsible for hospitalization due to bronchiolitis among infants in an Iranian tertiary center. Two hundred and three infants with bronchiolitis who were hospitalized in Bahrami hospital were enrolled. Data regarding age, sex, duration of hospitalization, exposure to smoking, previous antibiotic usage and fever were collected for all enrolled cases. Throat sample by means of soap was collected and rapid test with immunochromatography (IC) test was performed. Rapid test was positive in 59 (29%) cases and three cases had concomitant infection with two viruses. The most common viral agent was RSV (Respiratory Syncytial Virus). Mean age was significantly lower in cases with RSV or RSV+ adenovirus infectious in comparison with other two groups (adenovirus or influenza only), while mean duration of hospitalization was significantly longer in RSV/RSV+ adenovirus group. RSV is the most common viral etiology of bronchiolitis in Iranian infants less than one year old, which is related with younger age and longer duration of hospitalization. Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease. Near 10% of affected children have a relative with SLE. Autoimmune diseases are more common in relatives of children with SLE. As there is no study regarding the prevalence of autoimmune disease in cases with pediatric SLE, we designed this study to evaluate the prevalence of autoimmune disease in children with SLE. In this cross sectional study, 50 children with SLE and 50 healthy children were enrolled. A structured questionnaire was used to collect data regarding the presence of autoimmune diseases in relatives. One thousand eight hundred and thirty two relatives were evaluated in the case group and 1699 in the control group. The number of relatives with autoimmune diseases was significantly higher in the case group (26 vs 10). The most common autoimmune diseases were lupus, followed by thyroid diseases among cases, and thyroid diseases and rheumatoid arthritis in controls. According to the results of this study, the prevalence of autoimmune disorders is more common in relatives of children with SLE than in those of controls.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972782PMC
March 2018

The genetic basis of hyaline fibromatosis syndrome in patients from a consanguineous background: a case series.

BMC Med Genet 2018 05 25;19(1):87. Epub 2018 May 25.

Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, Thomas Jefferson University, 233 S. 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, USA.

Background: Hyaline fibromatosis syndrome (HFS) is a rare heritable multi-systemic disorder with significant dermatologic manifestations. It is caused by mutations in ANTXR2, which encodes a transmembrane receptor involved in collagen VI regulation in the extracellular matrix. Over 40 mutations in the ANTXR2 gene have been associated with cases of HFS. Variable severity of the disorder in different patients has been proposed to be related to the specific mutations in these patients and their location within the gene.

Case Presentation: In this report, we describe four cases of HFS from consanguineous backgrounds. Genetic analysis identified a novel homozygous frameshift deletion c.969del (p.Ile323Metfs*14) in one case, the previously reported mutation c.134 T > C (p.Leu45Pro) in another case, and the recurrent homozygous frameshift mutation c.1073dup (p.Ala359Cysfs*13) in two cases. The epidemiology of this latter mutation is of particular interest, as it is a candidate for inhibition of nonsense-mediated mRNA decay. Haplotype analysis was performed to determine the origin of this mutation in this consanguineous cohort, which suggested that it may develop sporadically in different populations.

Conclusions: This information provides insights on genotype-phenotype correlations, identifies a previously unreported mutation in ANTXR2, and improves the understanding of a recurrent mutation in HFS.
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http://dx.doi.org/10.1186/s12881-018-0581-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5970508PMC
May 2018

Complement deficiency in pediatric-onset systemic lupus erythematosus.

J Lab Physicians 2018 Apr-Jun;10(2):232-236

Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.

Background: Pediatric-onset systemic lupus erythematosus (pSLE) accounts for about 10%-20% of all patients with SLE. Deficiencies in early complement components of the classical pathway are the strong genetic risk factor for the development of SLE. In this study, clinical and laboratory manifestations of both complement-deficient and normal complement pSLE patients were compared.

Materials And Methods: To investigate clinical and immunological manifestations of pSLE in Iran, 36 consecutive pSLE patients (onset before 18 years) who were followed up over a period of 2 years, were studied. Complement C1q and C2 levels were measured using radial immunodifusion assay and complement C3 and C4 levels were measured using nephelometry. Medical records were retrospectively evaluated from patient database of Children Medical Center Hospital. Data were assessed through descriptive analysis (confidence interval = 95%), paired -test, and Pearson correlation test.

Results: Twenty-one patients (58%) had at least one component of complement deficiency. Ten patients (27%) had low C1q level, 11 patients (30.5%) had low C2, nine patients (25%) had low C3, and four patients (11%) had low C4 level. Serum level of complement in pSLE was significantly lower than the control group, except C4 ( = 0.005). The low C1q patients had an earlier age of onset of disease ( < 0.0001). The cutaneous manifestations were more frequent and much more severe in pSLE with low complement (100% vs. 73%). The frequency of renal and musculoskeletal symptoms was equal, but renal morbidity was more common in pSLE with low complement. Positivity for anti-ds-DNA was less common in pSLE with low complement (71% vs. 86%).

Conclusion: In pSLE patients with early disease onset and more aggressive SLE manifestations and negative anti-ds-DNA test, complement deficiency should be considered.
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http://dx.doi.org/10.4103/JLP.JLP_171_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5896194PMC
April 2018

The Farsi version of the Juvenile Arthritis Multidimensional Assessment Report (JAMAR).

Rheumatol Int 2018 Apr 7;38(Suppl 1):171-178. Epub 2018 Apr 7.

Clinica Pediatrica e Reumatologia, Paediatric Rheumatology International Trials Organisation (PRINTO), Istituto Giannina Gaslini, Via Gaslini 5, 16147, Genoa, Italy.

The Juvenile Arthritis Multidimensional Assessment Report (JAMAR) is a new parent/patient reported outcome measure that enables a thorough assessment of the disease status in children with juvenile idiopathic arthritis (JIA). We report the results of the cross-cultural adaptation and validation of the parent and patient versions of the JAMAR in the Farsi language. The reading comprehension of the questionnaire was tested in 10 JIA parents and patients. Each participating centre was asked to collect demographic, clinical data and the JAMAR in 100 consecutive JIA patients or all consecutive patients seen in a 6-month period and to administer the JAMAR to 100 healthy children and their parents. The statistical validation phase explored descriptive statistics and the psychometric issues of the JAMAR: the three Likert assumptions, floor/ceiling effects, internal consistency, Cronbach's alpha, interscale correlations, test-retest reliability, and construct validity (convergent and discriminant validity). A total of 102 JIA patients (14.7% systemic JIA, 67.6% oligoarticular, 15.7% RF negative polyarthritis, 2.0% other categories) and 198 healthy children, were enrolled in three paediatric rheumatology centres. Notably, none of the enrolled JIA patients is affected with enthesitis-related arthritis or undifferentiated arthritis. The JAMAR components discriminated healthy subjects from JIA patients. All JAMAR components revealed satisfactory psychometric performances. In conclusion, the Farsi version of the JAMAR is a valid tool for the assessment of children with JIA and is suitable for use both in routine clinical practice and clinical research.
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http://dx.doi.org/10.1007/s00296-018-3958-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893669PMC
April 2018

Association of interferon regulatory factor 5 (IRF5) gene polymorphisms with juvenile idiopathic arthritis.

Clin Rheumatol 2018 Oct 8;37(10):2661-2665. Epub 2018 Feb 8.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, 14194, Iran.

Interferon regulatory factor 5 (IRF5) is a member of IRF family which induce signaling pathways and are involved in modulation of cell growth, differentiation, apoptosis, and immune system activity. Juvenile idiopathic arthritis (JIA) is an auto-inflammatory syndrome where the inflammatory markers are believed to play a fundamental role in its pathogenesis. In this study, we aimed to assess the association of IRF5 gene polymorphisms with susceptibility of JIA in Iranian population. Three IRF5 single-nucleotide polymorphisms (rs10954213 A/G, rs2004640 G/T, and rs3807306 G/T) were genotyped using TaqMan assays in 55 patients with JIA and 63 matched healthy individuals. The frequency of the IRF5 rs2004640 T allele was significantly higher (69 vs 45%, P value = 0.0013) in JIA group as compared to control. The frequency of the IRF5 rs 2004640 G allele was significantly higher in the control group in comparison to JIA group (54 vs 32%, P value = 0.001). Allele and genotype frequencies of the rs10954213 and rs3807306 did not show any significant difference between JIA and control group. IRF5 rs 2004640 T allele can be considered as a risk factor for the development of JIA and presence of rs 2004640 G may be act as protective factor.
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http://dx.doi.org/10.1007/s10067-018-4010-9DOI Listing
October 2018

Frequency and Type of Hepatic and Gastrointestinal Involvement in Juvenile Systemic Lupus Erythematosus.

Autoimmune Dis 2017 29;2017:8097273. Epub 2017 Nov 29.

Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.

Background: Systemic lupus erythematosus (SLE) is a frequent rheumatology disorder among children. Since hepatic involvement is a common systemic manifestation in lupus, the frequency and type of hepatic involvement were determined in pediatric cases of SLE admitted to Children's Medical Hospital from 2005 to 2014.

Methods And Patients: In this observational case-series study, 138 pediatric cases of SLE were admitted in Children's Medical Center (a pediatric rheumatology referral center in Tehran, Iran) enrolled from 2005 to 2014 and the outcomes, frequency, and type of hepatic involvement were assessed among them.

Results: Hepatic involvement was reported in 48.55% of total SLE patients. Aspartate aminotransferase (AST), alanine aminotransferase (ALT), and both enzymes higher than normal upper limits were detected in 8.7%, 5%, and 34.7% of lupus patients, respectively. Increased level of liver enzymes was categorized as less than 100, between 100 and 1000, and more than 1000 levels in 23.1%, 23.1%, and 2.1% of cases. The only gastrointestinal involvement in lupus patients contributing to hepatic involvement was gastrointestinal bleeding. Rising in liver enzymes was detected mostly in lupus patients without gastrointestinal bleeding (52.2% without versus 25.8% with gastrointestinal bleeding, = 0.007).

Conclusion: Approximately half of the pediatric patients suffering from SLE have hepatic involvement. No significant correlation was observed between various organs involvement and abnormal level of liver enzymes.
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http://dx.doi.org/10.1155/2017/8097273DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727633PMC
November 2017

PDCD1 Single Nucleotide Polymorphisms in Iranian Patients With Juvenile Idiopathic Arthritis.

Acta Med Iran 2017 Nov;55(11):676-682

Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. AND Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. AND Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Juvenile idiopathic arthritis (JIA) is a clinically heterogeneous cluster of complex diseases, in which both the genetic and environmental factors seem to play a role in the development of the disease. The current study aims to assess the association of programmed cell death 1 (PDCD1, also called PD-1) gene variants with JIA vulnerability in Iranian population. In this case-control association study, we investigated a group of 50 Iranian patients with JIA in comparison with 202 healthy controls and evaluated the frequency of alleles, genotypes, and haplotypes of PDCD1 single-nucleotide polymorphisms (SNPs), comprising PD-1.1 G/A, PD-1.3 G/A and PD-1.9 C/T, using PCR-RFLP method. Both the allelic and genotype frequencies of PD-1.1, PD-1.3 and PD-1.9 were similar in two groups of patients and controls. Moreover, no significant difference was observed between the two groups of patients and controls for GGC (PD-1.1 G, PD-1.3 G, PD-1.9 C), GAC (PD-1.1 G, PD-1.3 A, PD-1.9 C), and AGT (PD-1.1 A, PD-1.3 G, PD-1.9 T) haplotypes. Our results did not show any association between PDCD1 SNPs and the development of JIA in Iranian population.
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November 2017

Single nucleotide polymorphism of Methyl-CpG-binding protein 2 gene associates with juvenile idiopathic arthritis.

Clin Rheumatol 2018 Feb 29;37(2):375-381. Epub 2017 Dec 29.

Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.

Methyl-CpG-binding protein 2 (MeCP2) is a transcription suppressor or activator, acting through binding to methylated DNA. Numerous investigations have established a role for methylation aberrancies in the pathogenesis of autoimmune disorders. Single nucleotide polymorphisms (SNPs) in MECP2 gene have been implicated with susceptibility to rheumatoid arthritis (RA). Here, the plausible association of MECP2 gene polymorphisms was evaluated with juvenile idiopathic arthritis (JIA) predisposition in Iranian pediatric patients. In this case-control association study, 49 JIA patients and 398 age-, sex-, and ethnicity-matched healthy individuals were included. Genotyping of all samples for MECP2 gene rs1734787, rs1734791, rs1734792, and rs17435 polymorphisms was conducted by real-time allelic discrimination PCR technique. Except the AT genotype of rs17435 SNP, none of the alleles and genotypes of other positions were distributed significantly between JIA cases and controls. AT genotype was less frequent in JIA cases and was found to be protective genotype of JIA proneness (OR = 0.42; CI, 0.19-0.90; P = 0.028). Among the haplotypes, CCAA and TTTT were detected to have significant difference between cases and controls (OR = 1.74; CI, 1.01-2.98; P = 0.042 and OR = 1.82; CI, 1.05-3.13; P = 0.028). All positions were in linkage disequilibrium with each other according to D'. MECP2 gene rs17435 polymorphism was associated with JIA predisposition. Considering the involvement of genetic polymorphisms of MECP2 gene in susceptibility to adult-onset RA, this gene might basically play a role in the initiation of arthritis during early stages of life.
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http://dx.doi.org/10.1007/s10067-017-3968-zDOI Listing
February 2018