Publications by authors named "Mahboubeh Mansouri"

24 Publications

  • Page 1 of 1

The effect of a cow's milk-free diet on asthma control in children: a quasi-experimental study.

Am J Clin Exp Immunol 2021 15;10(1):8-16. Epub 2021 Feb 15.

Humanitas University Milan, Italy.

Background: Food allergy which usually develops in the first year of life is a risk factor for persistent asthma in young children. Cow's milk has been demonstrated to be the most commonly identified food allergen in children. Considering the central role of non-IgE-mediated food allergies in the development of hidden gastroesophageal reflux and consequently asthma, we evaluated the effect of eliminating food allergens to better control asthma.

Method: A total of eighty infants and children up to the age of 12 referred to the Asthma Clinic of Mofid Children Hospital for a period of one year were enrolled in this study. In those patients whose asthma remained uncontrolled (Childhood Asthma Control Test ≤19) despite a 2-week period of treatment, we advocated a 2-week-diet based on eliminating cow's milk in conjunction with asthma conventional therapy. For breast-fed infants, mothers were requested to eliminate these products from their daily intake regimens and for formula-fed infants, the elemental based formula was started.

Results: Three of the patients were lost in follow-up and six of them were excluded from the study because of non-compliance. The Asthma Control Test score which was less than or equal to 19 in the entire study population, increased to 20 or more after we began a diet based on the elimination of cow's milk in all but 13 participants.

Conclusion: To conclude, the results were promising, demonstrating that a cow's milk protein elimination diet is a prudent approach in the management of patients with recalcitrant asthma, and can be considered as the missing link in asthma treatment.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8012302PMC
February 2021

Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).

Immunol Invest 2020 Jul 7:1-15. Epub 2020 Jul 7.

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

We describe a cohort of 25 Iranian patients with infantile inflammatory bowel disease (IBD), 14 (56%) of whom had monogenic defects. After proper screening, patients were referred for whole exome sequencing (WES). Four patients had missense mutations in the , and one had a large deletion in the . Four patients had mutations in genes implicated in host:microbiome homeostasis, including deficiency, and two patients with novel mutations in the and . We found a novel homozygous mutation in the in a deceased patient and the heterozygous variant in his sibling with a milder phenotype. Three patients had combined immunodeficiency: one with ZAP-70 deficiency (TBNK), and two with atypical SCID due to mutations in and . One patient had a mutation without neutropenia. Eleven of the 14 patients with monogenic defects were results of consanguinity and only 4 of them were alive to this date.
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http://dx.doi.org/10.1080/08820139.2020.1776725DOI Listing
July 2020

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

J Clin Immunol 2020 08 30;40(6):872-882. Epub 2020 Jun 30.

Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Mendelian susceptibility to mycobacterial diseases (MSMD) is a rare congenital condition characterized by a selective predisposition to infections caused by weakly virulent mycobacteria and other types of intra-macrophagic pathogens. The 16 genes associated with MSMD display a considerable level of allelic heterogeneity, accounting for 31 distinct disorders with variable clinical presentations and prognosis. Most of MSMD deficiencies are isolated, referred to as selective susceptibility to mycobacterial diseases. However, other deficiencies are syndromic MSMD, defined by the combination of the mycobacterial infection with another, equally common, infectious, specific phenotypes. Herein, we described a series of 32 Iranian MSMD cases identified with seven distinct types of molecular defects, all of which are involved in the interferon gamma (IFNγ) immunity, including interleukin IL-12 receptor-β1 (IL-12Rβ1) deficiency (fifteen cases), IL-12p40 deficiency (ten cases), and IL-23R deficiency (three cases), as well as IFNγ receptor 1 (IFNγR1) deficiency, IFNγ receptor 2 (IFNγR2) deficiency, interferon-stimulated gene 15 (ISG15) deficiency, and tyrosine kinase 2 (TYK2) deficiency each in one case. Since the first report of two MSMD patients in our center, we identified 30 other affected patients with similar clinical manifestations. As the number of reported Iranian cases with MSMD diagnosis has increased in recent years and according to the national vaccination protocol, all Iranian newborns receive BCG vaccination at birth, early diagnosis, and therapeutic intervention which are required for a better outcome and also prevention of similar birth defects. Therefore, we investigated the clinical and molecular features of these 32 patients. The current report also defined novel classes of pathological mutations, further expanding our knowledge of the MSMD molecular basis and associated clinical manifestations.
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http://dx.doi.org/10.1007/s10875-020-00813-7DOI Listing
August 2020

Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis.

J Clin Immunol 2018 10 9;38(7):816-832. Epub 2018 Oct 9.

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

Background: The number of inherited diseases and the spectrum of clinical manifestations of primary immunodeficiency disorders (PIDs) are ever-expanding. Molecular diagnosis using genomic approaches should be performed for all PID patients since it provides a resource to improve the management and to estimate the prognosis of patients with these rare immune disorders.

Method: The current update of Iranian PID registry (IPIDR) contains the clinical phenotype of newly registered patients during last 5 years (2013-2018) and the result of molecular diagnosis in patients enrolled for targeted and next-generation sequencing.

Results: Considering the newly diagnosed patients (n = 1395), the total number of registered PID patients reached 3056 (1852 male and 1204 female) from 31 medical centers. The predominantly antibody deficiency was the most common subcategory of PID (29.5%). The putative causative genetic defect was identified in 1014 patients (33.1%) and an autosomal recessive pattern was found in 79.3% of these patients. Among the genetically different categories of PID patients, the diagnostic rate was highest in defects in immune dysregulation and lowest in predominantly antibody deficiencies and mutations in the MEFV gene were the most frequent genetic disorder in our cohort.

Conclusions: During a 20-year registration of Iranian PID patients, significant changes have been observed by increasing the awareness of the medical community, national PID network establishment, improving therapeutic facilities, and recently by inclusion of the molecular diagnosis. The current collective study of PID phenotypes and genotypes provides a major source for ethnic surveillance, newborn screening, and genetic consultation for prenatal and preimplantation genetic diagnosis.
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http://dx.doi.org/10.1007/s10875-018-0556-1DOI Listing
October 2018

Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort.

Authors:
Reza Yazdani Hassan Abolhassani Fatemeh Kiaee Sima Habibi Gholamreza Azizi Marzieh Tavakol Zahra Chavoshzadeh Seyed Alireza Mahdaviani Tooba Momen Mohammad Gharagozlou Masoud Movahedi Amir Ali Hamidieh Nasrin Behniafard Mohammamd Nabavi Mohammad Hassan Bemanian Saba Arshi Rasol Molatefi Roya Sherkat Afshin Shirkani Reza Amin Soheila Aleyasin Reza Faridhosseini Farahzad Jabbari-Azad Iraj Mohammadzadeh Javad Ghaffari Alireza Shafiei Arash Kalantari Mahboubeh Mansouri Mehrnaz Mesdaghi Delara Babaie Hamid Ahanchian Maryam Khoshkhui Habib Soheili Mohammad Hossein Eslamian Taher Cheraghi Abbas Dabbaghzadeh Mahmoud Tavassoli Rasoul Nasiri Kalmarzi Seyed Hamidreza Mortazavi Sara Kashef Hossein Esmaeilzadeh Javad Tafaroji Abbas Khalili Fariborz Zandieh Mahnaz Sadeghi-Shabestari Sepideh Darougar Fatemeh Behmanesh Hedayat Akbari Mohammadreza Zandkarimi Farhad Abolnezhadian Abbas Fayezi Mojgan Moghtaderi Akefeh Ahmadiafshar Behzad Shakerian Vahid Sajedi Behrang Taghvaei Mojgan Safari Marzieh Heidarzadeh Babak Ghalebaghi Seyed Mohammad Fathi Behzad Darabi Saeed Bazregari Nasrin Bazargan Morteza Fallahpour Alireza Khayatzadeh Naser Javahertrash Bahram Bashardoust Mohammadali Zamani Azam Mohsenzadeh Sarehsadat Ebrahimi Samin Sharafian Ahmad Vosughimotlagh Mitra Tafakoridelbari Maziar Rahim Parisa Ashournia Anahita Razaghian Arezou Rezaei Ashraf Samavat Setareh Mamishi Hossein Ali Khazaei Javad Mohammadi Babak Negahdari Nima Parvaneh Nima Rezaei Vassilios Lougaris Silvia Giliani Alessandro Plebani Hans D Ochs Lennart Hammarström Asghar Aghamohammadi

J Allergy Clin Immunol Pract 2019 03 19;7(3):864-878.e9. Epub 2018 Sep 19.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Iranian Primary Immunodeficiencies Network (IPIN), Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

Background: Predominantly antibody deficiencies (PADs) are the most common primary immunodeficiencies, characterized by hypogammaglobulinemia and inability to generate effective antibody responses.

Objective: We intended to report most common monogenic PADs and to investigate how patients with PAD who were primarily diagnosed as suffering from agammaglobulinemia, hyper-IgM (HIgM) syndrome, and common variable immunodeficiency (CVID) have different clinical and immunological findings.

Methods: Stepwise next-generation sequencing and Sanger sequencing were performed for confirmation of the mutations in the patients clinically diagnosed as suffering from agammaglobulinemia, HIgM syndrome, and CVID.

Results: Among 550 registered patients, the predominant genetic defects associated with agammaglobulinemia (48 Bruton's tyrosine kinase [BTK] and 6 μ heavy chain deficiencies), HIgM syndrome (21 CD40 ligand and 7 activation-induced cytidine deaminase deficiencies), and CVID (17 lipopolysaccharides-responsive beige-like anchor deficiency and 12 atypical Immunodeficiency, Centromeric instability, and Facial dysmorphism syndromes) were identified. Clinical disease severity was significantly higher in patients with μ heavy chain and CD40 ligand mutations compared with patients with BTK (P = .003) and activation-induced cytidine deaminase (P = .009) mutations. Paralysis following live polio vaccination was considerably higher in patients with μ heavy chain deficiency compared with BTK deficiency (P < .001). We found a genotype-phenotype correlation among patients with BTK mutations regarding clinical manifestation of meningitis and chronic diarrhea. Surprisingly, we noticed that first presentations in most patients with Immunodeficiency, Centromeric instability, and Facial dysmorphism were respiratory complications (P = .008), whereas first presentations in patients with lipopolysaccharides-responsive beige-like anchor deficiency were nonrespiratory complications (P = .008).

Conclusions: This study highlights similarities and differences in the clinical and genetic spectrum of the most common PAD-associated gene defects. This comprehensive comparison will facilitate clinical decision making, and improve prognosis and targeted treatment.
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http://dx.doi.org/10.1016/j.jaip.2018.09.004DOI Listing
March 2019

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

J Clin Immunol 2018 07 11;38(5):617-627. Epub 2018 Jul 11.

Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Hospital for Sick Children, Paris, France.

Purpose: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy number variations (CNVs), identified in two of the 213 IL-12Rβ1-deficient patients and two of the 164 kindreds reported. These two CNVs are large deletions found in the heterozygous or homozygous state. We searched for novel families with IL-12Rβ1 deficiency due to CNVs.

Methods: We studied six MSMD patients from five unrelated kindreds displaying adverse reactions to BCG vaccination. Three of the patients also presented systemic salmonellosis, two had mucocutaneous candidiasis, and one had disseminated histoplasmosis. We searched for CNVs and other variations by IL12RB1-targeted next-generation sequencing (NGS).

Results: We identified six new IL-12Rβ1-deficient patients with a complete loss of IL-12Rβ1 expression on phytohemagglutinin-activated T cells and/or EBV-transformed B cells. The cells of these patients did not respond to IL-12 and IL-23. Five different CNVs encompassing IL12RB1 (four deletions and one duplication) were identified in these patients by NGS coverage analysis, either in the homozygous state (n = 1) or in trans (n = 4) with a single-nucleotide variation (n = 3) or a small indel (n = 1). Seven of the nine mutations are novel. Interestingly, four of the five CNVs were predicted to be driven by nearby Alu elements, as well as the two previously reported large deletions. The IL12RB1 locus is actually enriched in Alu elements (44.7%), when compared with the rest of the genome (10.5%).

Conclusion: The IL12RB1 locus is Alu-enriched and therefore prone to rearrangements at various positions. CNVs should be considered in the genetic diagnosis of IL-12Rβ1 deficiency.
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http://dx.doi.org/10.1007/s10875-018-0527-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6329663PMC
July 2018

Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital.

Iran J Allergy Asthma Immunol 2018 Apr;17(2):201-207

Pediatric Infectious Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran AND Department of Allergy and Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Severe combined immunodeficiency syndrome (SCID) is a life-threatening condition leading to early infant death as a result of severe infection, due to impaired cellular and humoral immune systems. Various forms of SCID are classified based on the presence or absence of T cells, B cells and natural killer cells. Patients usually present with recurrent infections and failure to thrive. Definitive treatment is hematopoietic stem cell transplantation. To achieve the best outcome, it should be performed prior to the development of severe infection. In This study, we described 10 patients (6 male and 4 female) with SCID who were admitted to Mofid Children Hospital, Tehran, Iran, from 2006 to 2013. We reviewed patients' clinical manifestation, laboratory data, family history and outcome. The mean age at the time of diagnosis was 131.8 days. One patient had non-consanguineous parents. Seven patients received BCG vaccine before the diagnosis of SCID, three of them showed disseminated BCG infection. One patient presented with invasive pulmonary aspergillosis. Flow cytometric analysis showed T⁻B⁺NK⁻ in three patients, T⁻B⁻NK⁺ in five patients, T⁻B⁻NK⁻ in one patient, and T⁻B⁺NK⁺ in one patient. This study highlights the importance of early diagnosis and patient referral before the occurrence of serious infection.
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April 2018

Van Maldergem syndrome and Hennekam syndrome: Further delineation of allelic phenotypes.

Am J Med Genet A 2018 05;176(5):1166-1174

Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands.

Biallelic variants in FAT4 are associated with the two disorders, Van Maldergem syndrome (VMS) (n = 11) and Hennekam syndrome (HS) (n= 40). Both conditions are characterized by a typical facial gestalt and mild to moderate intellectual disability, but differ in the occurrence of neonatal hypotonia and feeding problems, hearing loss, tracheal anomalies, and osteopenia in VMS, and lymphedema in HS. VMS can be caused by autosomal recessive variants in DCHS1 as well, and HS can also be caused by autosomal recessive variants in CCBE1 and ADAMTS3. Here we report two siblings with VMS and one girl with HS, all with FAT4 variants, and provide an overview of the clinical findings in all patients reported with FAT4 variants. Our comparison of the complete phenotypes of patients with VMS and HS indicates a resemblance of several signs, but differences in several other main signs and symptoms, each of marked importance for affected individuals.
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http://dx.doi.org/10.1002/ajmg.a.38652DOI Listing
May 2018

Is the Atopy Patch Test Reliable in the Evaluation of Food Allergy-Related Atopic Dermatitis?

Int Arch Allergy Immunol 2018 13;175(1-2):85-90. Epub 2018 Jan 13.

Department of Immunology and Allergy, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Background: Aeroallergens and food allergens are found to be relevant in atopic dermatitis. The atopy patch test (APT) can help to detect food allergies in children with atopic dermatitis. This study evaluates if the APT is a valuable tool in the diagnostic workup of children with food allergy-related atopic dermatitis.

Methods: 42 children between 6 months and 12 years of age were selected at the Mofid Children Hospital. Atopic dermatitis was diagnosed, and the severity of the disease was determined. At the test visit, the patients underwent a skin prick test (SPT), APT, and serum IgE level measurement for cow's milk, egg yolk, egg white, wheat, and soy.

Results: We found a sensitivity of 91.7%, a specificity of 72.7%, a positive predictive value (PPV) of 88%, a negative predictive value (NPV) of 80%, and an accuracy of 85.7% for APT performed for cow's milk. APT performed for egg yolk had a sensitivity and a NPV of 100%, while the same parameters obtained with egg white were 84.2 and 75%, respectively. The sensitivity, specificity, and NPV of the APT for wheat were 100, 75, and 100%, respectively. The sensitivity, PPV, and NPV of the APT for soy were 87.5, 70, and 87.5%, respectively.

Conclusions: Our data demonstrate that the APT is a reliable diagnostic tool to evaluate suspected food allergy-related skin symptoms in childhood and infancy.
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http://dx.doi.org/10.1159/000485126DOI Listing
April 2018

Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency.

J Allergy Clin Immunol 2018 04 12;141(4):1450-1458. Epub 2017 Sep 12.

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran, and the University of Medical Science, Tehran, Iran; Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address:

Background: Combined immunodeficiencies (CIDs) are diseases of defective adaptive immunity with diverse clinical phenotypes. Although CIDs are more prevalent in the Middle East than Western countries, the resources for genetic diagnosis are limited.

Objectives: This study aims to characterize the categories of patients with CIDs in Iran clinically and genetically.

Methods: Clinical and laboratory data were obtained from 696 patients with CIDs. Patients were subdivided into those with syndromic (344 patients) and nonsyndromic (352 patients) CIDs. Targeted DNA sequencing was performed on 243 (34.9%) patients.

Results: The overall diagnostic yield of the 243 sequenced patients was 77.8% (189 patients). The clinical diagnosis of hyper-IgE syndrome (P < .001), onset of disease at greater than 5 years (P = .02), and absence of multiple affected family members (P = .04) were significantly more frequent in the patients without a genetic diagnosis. An autosomal recessive disease was found in 62.9% of patients, reflecting the high rate of consanguinity in this cohort. Mutations impairing VDJ recombination and DNA repair were the most common underlying causes of CIDs. However, in patients with syndromic CIDs, autosomal recessive mutations in ataxia-telangiectasia mutated (ATM), autosomal dominant mutations in signal transducer and activator of transcription 3 (STAT3), and microdeletions in 22q11.21 were the most commonly affected genomic loci. Patients with syndromic CIDs had a significantly lower 5-year survival rate rather than those with nonsyndromic CIDs.

Conclusions: This study provides proof of principle for the application of targeted next-generation sequencing panels in countries with limited diagnostic resources. The effect of genetic diagnosis on clinical care requires continued improvements in therapeutic resources for these patients.
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http://dx.doi.org/10.1016/j.jaci.2017.06.049DOI Listing
April 2018

HLA-B*1502 in Iranian Children with Anticonvulsant Drugs-Induced Skin Reactions.

Iran J Child Neurol 2017 ;11(2):26-30

Department of Immunology and Allergy, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Objective: Anticonvulsant drugs can cause various forms of skin drug reactions, ranging from exanthema to severe blistering reactions. An association between HLA-B*1502 allele and severe skin reactions have been reported.

Materials & Methods: Fifteen patients with severe skin reactions following treatment with anticonvulsant drugs (Carbamazepine, lamotrigine, phenobarbital, primidone) and 15 controls (age-matched epileptic patients taking similar anticonvulsants without drug eruption) were included. They were referred to Mofid Children's Hospital in Tehran, Iran, between Jan 2012 to Jan 2014. Genomic DNA was extracted from peripheral blood of all patients and HLA- B*1502 genotype was detected by real-time PCR.

Results: None of the patients was positive for HLA- B*1502, but two patients in control group had positive HLA- B*1502.

Conclusion: The HLA- B*1502 is not correlated with severe anticonvulsant drugs -induced skin reactions in Iranian children.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5493826PMC
January 2017

Oral and Sublingual Immunotherapy: Potential Causes for Eosinophilic Gastrointestinal Disorders?

Int Arch Allergy Immunol 2017 23;172(2):89-98. Epub 2017 Feb 23.

Department of Allergy and Immunology, Mofid Children's Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Food allergy is a common health problem worldwide, with increasing prevalence during recent decades. The only approved treatments for food allergy are food avoidance and administration of emergency medications in case of accidental exposure, which negatively affects patients' quality of life, so new treatments are highly desirable. Different food immunotherapy modalities have recently been used, with variable success rates in the induction of desensitization and tolerance, and different numbers and types of adverse reactions. Adverse reactions, especially intolerable gastrointestinal symptoms, are the most important causes of immunotherapy withdrawal. Eosinophilic esophagitis has been reported as a complication of milk, egg, and peanut oral immunotherapies and sublingual immunotherapy for respiratory allergies, but not for food allergies. Eosinophilic gastritis and eosinophilic colitis also rarely happened following egg and milk oral immunotherapies. The patients undergoing oral and sublingual immunotherapies should be closely followed up for a long time, and those with gastrointestinal symptoms should be evaluated by endoscopy of the gastrointestinal tract. These complications are usually reversible after early diagnosis and stopping the immunotherapy protocol.
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http://dx.doi.org/10.1159/000457796DOI Listing
April 2017

Evaluation of Lymphocyte Transformation Test Results in Patients with Delayed Hypersensitivity Reactions following the Use of Anticonvulsant Drugs.

Int Arch Allergy Immunol 2016 25;170(3):158-62. Epub 2016 Aug 25.

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

Background/aim: Administration of the anticonvulsant drugs phenobarbital, phenytoin, carbamazepine and lamotrigine can be associated with severe hypersensitivity reactions. The lymphocyte transformation test (LTT) is a method to determine which drug has caused the hypersensitivity reaction. This study was done to evaluate the results of LTT in patients with delayed hypersensitivity reactions following the administration of anticonvulsants.

Methods: Twenty-four patients with hypersensitivity reactions, e.g. drug-induced hypersensitivity syndrome/drug rash and eosinophilia with systemic symptoms (DIHS/DRESS), Stevens-Johnson syndrome (SJS) and toxic epidermal necrosis (TEN), following the administration of anticonvulsant drugs, and 24 patients who had used anticonvulsant drugs but did not have hypersensitivity reactions (the control group) were included in this study. Peripheral blood mononuclear cells were isolated. The cells were stimulated with the drugs, phytohemagglutinin as a mitogen and Candida as an antigen (positive controls). Lymphocyte proliferation was measured using the BrdU proliferation assay kit (Roche, Germany). The stimulation index was calculated as the mean ratio of the OD of stimulated cells divided by the OD of unstimulated cells. The results in the case and control groups were compared.

Results: Of 24 patients in the test group, 14 (58.3%) had positive LTT results and 10 (41.7%) had negative results. Among patients in the control group, 1 (4.2%) had a positive LTT result and 23 (95.8%) had negative results. Among the patients who had received carbamazepine and phenytoin, there was a significant difference between the results of LTT in the case and control groups (p = 0.002 and p = 0.028, respectively). Although patients receiving lamotrigine and phenobarbital had more positive LTT results in the case group than in the control group, these differences were not statistically significant. The sensitivity, specificity, positive predictive value and negative predictive value of LTT were 58.4, 95.8, 93.3 and 69.9%, respectively.

Conclusions: Considering the significant difference in LTT results between the case and control groups in patients receiving carbamazepine and phenytoin, and not observing such a difference in patients receiving phenobarbital and lamotrigine, LTT results are more valuable for the diagnosis of hypersensitivity reactions following the administration of carbamazepine and phenytoin. The LTT has good specificity but low sensitivity for the diagnosis of drug hypersensitivity reactions.
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http://dx.doi.org/10.1159/000448284DOI Listing
February 2017

Pyoderma Vegetans: A Case Report in a Child Suspected to Primary Immunodeficiency and Review of the Literature.

Iran J Med Sci 2015 Jul;40(4):381-5

Pediatric Congenital Hematologic Disorders Research Center, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Pyoderma vegetans (PV) is a rare inflammatory disorder characterized by vegetating pustules and plaques affecting the skin and mucosal membranes. It is believed that this entity is mostly associated with inflammatory bowel disease (IBD), chronic malnutrition, human immunodeficiency virus (HIV), malignancies, and other immunocompromised states. Pyoderma vegetans occurs more commonly in young and middle-aged adults. There is no sex predilection for this entity. The lesions could heal spontaneously, but usually recur and become chronic. Our patient was an 11-year-old girl suspected to have primary combined immunodeficiency complicated by chronic recurrent vegetating pustular lesions on the face and postauricular area since one year of age. The histological features of the lesions were consistent with pyoderma vegetans. This is the first case of PV beginning from early infancy in the setting of primary immunodeficiency and in an unusual location.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4487467PMC
July 2015

Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry.

J Clin Immunol 2014 May;34(4):478-90

Background: Primary immunodeficiency disorders (PID) are a group of heterogeneous disorders mainly characterized by severe and recurrent infections and increased susceptibility to malignancies, lymphoproliferative and autoimmune conditions. National registries of PID disorders provide epidemiological data and increase the awareness of medical personnel as well as health care providers.

Methods: This study presents the demographic data and clinical manifestations of Iranian PID patients who were diagnosed from March 2006 till the March of 2013 and were registered in Iranian PID Registry (IPIDR) after its second report of 2006.

Results: A total number of 731 new PID patients (455 male and 276 female) from 14 medical centers were enrolled in the current study. Predominantly antibody deficiencies were the most common subcategory of PID (32.3 %) and were followed by combined immunodeficiencies (22.3 %), congenital defects of phagocyte number, function, or both (17.4 %), well-defined syndromes with immunodeficiency (17.2 %), autoinflammatory disorders (5.2 %), diseases of immune dysregulation (2.6 %), defects in innate immunity (1.6 %), and complement deficiencies (1.4 %). Severe combined immunodeficiency was the most common disorder (21.1 %). Other prevalent disorders were common variable immunodeficiency (14.9 %), hyper IgE syndrome (7.7 %), and selective IgA deficiency (7.5 %).

Conclusions: Registration of Iranian PID patients increased the awareness of medical community of Iran and developed diagnostic and therapeutic techniques across more parts of the country. Further efforts must be taken by increasing the coverage of IPIDR via electronically registration and gradual referral system in order to provide better estimation of PID in Iran and reduce the number of undiagnosed cases.
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http://dx.doi.org/10.1007/s10875-014-0001-zDOI Listing
May 2014

Follow-up of the wheat allergy in children; consequences and outgrowing the allergy.

Iran J Allergy Asthma Immunol 2012 Jun;11(2):157-63

Department of Immunology and Allergy, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Allergy to wheat is a common food allergy. In spite of this fact, there is not enough literature regarding the features and outgrowing of this allergy. The objective of this study was to evaluate the manifestations of this allergy and to follow the patients to evaluate whether outgrowing allergy happens again and when it occurs.Eight wheat allergic patients diagnosed between 2000 and 2001 were re-evaluated together with 13 other new cases of wheat allergy referred to the Immunology and Allergy Pediatric Department from June 2004 to March 2006. For all cases, the demographic data along with a complete history regarding allergy to wheat and other types of allergy were collected in questionnaires. The specific IgE measurements (in vivo and in vitro) and oral food challenge (in the absence of a relevant history related to allergy to wheat) were performed. Severe anaphylaxis was seen after wheat ingestion in more than 90% of the patients. Oral tolerance to wheat developed in three patients (37.5%) out of 8 known previous cases who had been followed for eight years, the mean age of oral tolerance to wheat was 68 ± 6.36 (range; 36 months to 108 months).Clinical reactions in our wheat-allergic patients were more severe than those reported before. These patients were at risk for developing chronic allergic symptoms such as asthma. We also found that oral tolerance to wheat was happening in a minority of our patients.
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http://dx.doi.org/011.02/ijaai.157163DOI Listing
June 2012

Common causes of anaphylaxis in children: the first report of anaphylaxis registry in iran.

World Allergy Organ J 2010 Jan;3(1):9-13

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran

Background: : Anaphylaxis is an acute, systemic, and potentially fatal allergic reaction. Many things can cause anaphylaxis potentially but some agents are more common like some foods (milk, egg, soy, wheat, peanut, tree nut, shellfish, and fish), insect stings, medications, latex, and food-dependent exercise-induced anaphylaxis. The goal of this study is to show the common causes of anaphylaxis among the children with anaphylaxis history who were referred to the Immunology, Asthma and Allergy Research Institute (IAARI) during a 4-year period (2005-2009).

Methods And Materials: : During those 4 years, we registered all children (<14 years old) with a history of anaphylactic reaction. To prove the cause of anaphylaxis, we performed skin prick tests with suspected agents according to their history and measured specific IgE against them by the ImmunoCAP test. Recognition of common allergens was based on having a positive history for 1 allergen and positive skin prick test or specific IgE for that at the same time, or having positive results from both tests when the allergen was unclear. Idiopathic anaphylaxis was a reaction when any known allergen and positive tests were not obtained.

Results: : One hundred ninety-three nonfatal anaphylactic attacks among 63 children were recognized. In total, the most current cause of anaphylaxis in children was food (89.7%). Milk (49.3%) and wheat (26.1%) were the most common. Other foods were egg (8.7%), nuts (2.8%), and spices (2.8%). Six children (8.7%) were sensitive to multiple food allergens like milk, egg, and wheat. Five (7.1%) of 63 patients had anaphylactic attack because of stinging. Wasp was the trigger in 3 (4.3%) of them and honeybee was the cause in 1 (1.4%). The last one was because of unknown hymenoptera. There were 2 idiopathic cases of all 63 patients.

Conclusions: : Food allergens, especially milk and wheat, are the most common cause of anaphylaxis in children. Because anaphylaxis can be fatal, it is advisable to recognize its causes in different communities to prevent recurrent attacks.
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http://dx.doi.org/10.1097/WOX.0b013e3181c82128DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651078PMC
January 2010

Evaluation of liver diseases in Iranian patients with primary antibody deficiencies.

Ann Hepatol 2009 Jul-Sep;8(3):196-202

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

Introduction: Patients with primary antibody deficiency (PAD) can complicate with liver disease. This study was performed in order to study the prevalence and causes of hepatobiliary diseases in Iranian patients with PAD.

Material And Methods: Sixty-two patients with PAD were followed-up and signs and symptoms of liver disease were recorded. All patients were screened for hepatitis C virus (HCV-RNA) and those patients with any sign of liver disease or gastrointestinal complaints were tested for Cryptosporidium parvum.

Results: Clinical evidences of liver disease, including hepatomegaly, were documented in 22 patients (35.5%). Eight patients (13%) had clinical and/or laboratory criteria of chronic liver disease. Only one patient was HCV-RNA positive; he had stigmata of chronic liver disease and pathologic evidence of chronic active hepatitis with cirrhosis. Cryptosporidium parvum test was positive for one patient with hyper-IgM syndrome. In liver biopsy of patients with liver involvement, one had histological findings related to sclerosing cholangitis, and five had mild to moderate chronic active hepatitis with unknown reason.

Conclusions: Chronic active hepatitis is the most common pathologic feature of liver injury in Iranian patients with PAD. Liver disease in PAD usually accompanies with other organ involvements and could increase the mortality of PAD. Whether this high rate of liver disease with unknown origin (75%) is the result of an unidentified hepatotropic virus or other mechanisms such as autoimmunity, is currently difficult to understand.
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May 2010

Wheat anaphylaxis in children.

Immunol Invest 2007 ;36(2):175-82

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Children Medical Center, Tehran, Iran.

Food anaphylaxis is now the leading known cause of anaphylactic reactions treated in emergency departments, and wheat is one of the most common causes of anaphylaxis. Wheat is an important source of food worldwide. Wheat anaphylaxis is increasingly observed in our clinic. The purpose of this study was to describe the clinical features of wheat-induced anaphylaxis in 19 children for better elucidation of this disease. Children with severe reactions after ingestion of small amounts of wheat were referred to our clinic during a 4-year period. A detailed clinical history was recorded for each of the patients and a skin prick test was performed with wheat allergen extracts. The wheat-specific IgE and total IgE were measured. Grading of anaphylaxis episodes was performed according to a specific grading system. We identified 36 episodes of wheat anaphylaxis in 19 patients. All of the first attacks of wheat anaphylaxis occurred in the first-time ingestion. The most frequent manifestations of the reactions were skin and respiratory symptoms. In this study 78.9% of reactions were moderate and 21.1% of them were severe. All of our patients had positive skin prick tests to wheat. Mean total IgE level was 853.4 +/- 455.27 IU/ml, and mean wheat-specific IgE was 70 +/- 14.61 Ucs/ml. We conclude that wheat-induced anaphylaxis is a disease that is sufficiently severe, and. prevention of first wheat-induced anaphylaxis episodes is almost impossible. It would, however, probably be good practice to educate physicians to recognize the common clinical manifestations of this disease for early management.
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http://dx.doi.org/10.1080/08820130600941211DOI Listing
June 2007

Study of alpha1-antitrypsin phenotypes frequencies in patients with primary antibody deficiency.

Iran J Allergy Asthma Immunol 2006 Jun;5(2):69-74

Department of Allergy and Clinical Immunology, Children Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.

Primary antibody deficiencies are the most frequent primary immunodeficiency disorders. Bronchiectasis as a feature of these disorders may be developed due to some factors such alpha-1- antitrypsin deficiency. In order to determine the prevalence of two common alpha-1-antitrypsin deficiency alleles (PI*Z and PI*S) in Iranian patients with antibody deficiency, this study was performed. The prevalence of PI*M, PI*S, and PI*Z allele combinations was determined in 40 patients with primary antibody deficiency (with and without bronchiectasis) and compared with 60 healthy control subjects. Phenotyping was performed by isoelectric focusing. The phenotype frequencies among patients were as follow: M in 92.5%, S in 2.5% and Z in 5%. There was not any significant difference in distribution of alleles or phenotypes between patients and control subjects. Moreover, no significant difference was found between patients with and without bronchiectasis. We did not find evidence to support an association between alpha-1-antitrypsin phenotypes and primary antibody deficiencies in a small, controlled study. Larger studies will be required to clarify the relationship between alpha-1-antitrypsin genotype and susceptibility to bronchiectasis in patients with antibody deficiency.
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http://dx.doi.org/05.01/ijaai.6974DOI Listing
June 2006

DNA banking of primary immunodeficiency disorders in iran.

Iran J Allergy Asthma Immunol 2006 Dec;5(4):201-2

Primary immunodeficiency disorders are a heterogeneous group of genetic disorders, with different modes of inheritance, consisting of more than 100 different types. We constructed the DNA banking of primary immunodeficiency disorders for the first time in Iran. The DNA of 31 immunodeficient patients and their families (total of 92 samples) were collected, as the first step for construction of DNA banking. DNA was isolated from whole blood by salting out method. Among our patients, Common variable immunodeficiency was the most common disorder, followed by X-linked agammaglobulinemia, Ataxia-telangiectasia, Chronic granulomatous disease, Severe combined immunodeficiency, Hyper IgM syndromes, and Leukocyte adhesion defects. DNA banking is a useful method for further detection of mutation in immunodeficient patients and prenatal diagnosis for presence or absence of the disorder in the fetus which can be confirmed by molecular genetics testing.
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http://dx.doi.org/05.04/ijaai.201202DOI Listing
December 2006

Lymphoma of mucosa-associated lymphoid tissue in common variable immunodeficiency.

Leuk Lymphoma 2006 Feb;47(2):343-6

Department of Clinical Pediatric Immunology, Children's Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran.

Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency characterized by reduced levels of all major immunoglobuline classes and recurrent c infections. The risk of non-Hodgkin's lymphoma (NHL) among patients with CVID was found to be increased in different studies. Mucosa-associated lymphoid tissue (MALT) lymphomas are a recently recognized sub-set of low-grade B-cell NHL composed of marginal zone-related cells. MALT lymphomas appear in the lymphoid tissues as a result of chronic inflammatory or autoimmune stimulation. This study briefly reviews previously published cases and reports a patient suffering from CVID with a history of chronic diarrhea and recurrent sinopulmonary infections. Despite treatment with intravenous immunoglobulin, chronic cough and wheezing progressed. Open lung biopsy showed a MALT lymphoma. Although a rare complication, pulmonary low grade B-cell lymphoma is a diagnosis that must be kept in mind in CVID patients with chronic pulmonary symptoms unresponsive to conventional therapies.
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http://dx.doi.org/10.1080/10428190500285285DOI Listing
February 2006

Which cereal is a suitable substitute for wheat in children with wheat allergy?

Pediatr Allergy Immunol 2005 May;16(3):262-6

Immunology, Asthma and Allergy Research Institute, Children Medical Center, Tehran University of Medical Sciences, Tehran, IR Iran.

Wheat is one of the main food allergens. It is among widely used cereals and there is an extensive cross-reaction between cereals. The aim of this study is to evaluate the extent to which cereals cross-react and to find the best substitute for wheat. Eighteen patients with definite diagnosis of type I hypersensitivity reactions to wheat enrolled in this study. Measurement of serum-specific IgE and skin prick test (SPT) for cereals flour (wheat, barley, oat, rye, rice and corn) and wheat bran was carried out. Also, open food challenge tests with available and conventional cereals in Iranian food culture (wheat, corn, rice and barley) were carried out. The SPTs were positive in 44.4% of patients for barley, 94.5% for wheat and 44-77% for other cereals. Positive serum-specific IgE was remarkable for wheat and barley and there was correlation between wheat and barley-specific IgE concentrations (r = 0.773 and p < 0.01). Corn serum-specific IgE was measured in 10 patients, which were positive in six of them. Of the patients, 55.5% had positive barley challenge tests, but all corn and rice challenge tests were negative. The best substitutes for wheat in wheat allergic patients are rice and corn. Regarding the correlation of wheat and barley serum-specific IgEs, there might be a high antigenic cross-reaction, therefore barley is not a good substitute for wheat and consuming barley needs a careful challenge test. Considering concordance of positive SPT to wheat flour and wheat bran, avoiding both of them is necessary in patients with wheat allergy.
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http://dx.doi.org/10.1111/j.1399-3038.2005.00263.xDOI Listing
May 2005

Wheat allergy: clinical and laboratory findings.

Int Arch Allergy Immunol 2004 Feb 5;133(2):168-73. Epub 2004 Feb 5.

Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran.

Background: Food allergy affects 6-8% of infants and wheat allergy is one of the common food allergies among children. The clinical and laboratory manifestations of wheat allergy were evaluated in this study.

Methods: Thirty-two children (< or =12 years old) with suspected wheat allergy were evaluated for wheat allergy. The patients underwent wheat skin prick test (SPT), measurement of wheat-specific IgE and wheat challenge test. The patients with a convincing history of anaphylaxis following ingestion of wheat or with a positive challenge test, and those with a history of immediate hypersensitivity reaction following ingestion of wheat in addition to a positive wheat SPT and/or positive wheat-specific IgE were considered wheat allergic. Then, the laboratory and clinical manifestations of their disease were studied.

Results: Among patients with suspected wheat allergy, 24 patients with definite wheat allergy were identified. Anaphylaxis was a dominant clinical feature, accounting for 54.1% of acute symptoms. Chronic allergy symptoms like asthma and eczema were noted in 50% of the patients. Wheat-specific IgE was higher in patients with anaphylaxis (p<0.02) and the risk of anaphylaxis was 14.4 times more in patients with wheat-specific IgE equal to or more than 3+.

Conclusions: Anaphylaxis had occurred in a remarkable number of patients repeatedly, which demonstrates the severity of the reactions, poor knowledge of the disease and probable existence of more patients with mild reactions. Regarding the higher level of wheat-specific IgE in patients with anaphylaxis, wheat-specific IgE could be used to predict the severity of symptoms.
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http://dx.doi.org/10.1159/000076623DOI Listing
February 2004