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3,182 results match your criteria Common Variable Immunodeficiency
J Neurosurg Pediatr 2018 Jun 15:1-5. Epub 2018 Jun 15.
Departments of 1 Neurological Surgery.
Epstein-Barr virus-associated smooth-muscle tumors are rare tumors seen in immunocompromised patients. Most cases occur in the context of AIDS and organ transplantation, and very rarely in the setting of congenital immunodeficiency, with only 5 case reports of the latter published so far in the literature. The authors report the case of a previously healthy 8-year-old girl with headaches and precocious puberty who was found to have a large skull base lesion. Read More
J Clin Invest 2018 Jun 11. Epub 2018 Jun 11.
Immunology Service, Department of Laboratory Medicine, Clinical Center, NIH, Bethesda, Maryland, USA.
Ikaros/IKZF1 is an essential transcription factor expressed throughout hematopoiesis. IKZF1 is implicated in lymphocyte and myeloid differentiation and negative regulation of cell proliferation. In humans, somatic mutations in IKZF1 have been linked to the development of B cell acute lymphoblastic leukemia (ALL) in children and adults. Read More
Clin Case Rep 2018 Jun 2;6(6):1166-1171. Epub 2018 May 2.
Hudson Valley Healing Arts Center 4232 Albany Post Road Hyde Park New York 12538.
Bone marrow transplantation and stem cell therapies have been used for the treatment of common variable immunodeficiency (CVID) and other life-threatening medical disorders. This is the first known case report in the medical literature describing improvement of both Lyme disease and CVID with human embryonic stem cell therapy. Read More
Pan Afr Med J 2017 22;28:253. Epub 2017 Nov 22.
Service de Pneumologie D, Université de Tunis El Manar, Faculté de Médecine de Tunis, Hôpital Abderrahmen Mami, Ariana, Tunisie.
Good syndrome (GS) is defined as the association between thymoma and immune deficiency. It is often complicated by broncho-pulmonary bacterial infections and rhinosinusitis. This disease accounts for only 5% of all parathymic syndromes. Read More
Front Immunol 2018 14;9:694. Epub 2018 May 14.
The Jeffrey Modell Diagnostic and Research Centre for Primary Immunodeficiencies, Melbourne, VIC, Australia.
Background: Predominantly antibody deficiencies (PADs) are the most common type of primary immunodeficiency in adults. PADs frequently pass undetected leading to delayed diagnosis, delayed treatment, and the potential for end-organ damage including bronchiectasis. In addition, PADs are frequently accompanied by comorbid autoimmune disease, and an increased risk of malignancy. Read More
Front Immunol 2018 14;9:636. Epub 2018 May 14.
Servei de Genòmica, Departament de Ciències Experimentals i de la Salut, Universitat Pompeu Fabra, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain.
Common variable immunodeficiency (CVID) is the most frequent symptomatic primary immunodeficiency characterized by recurrent infections, hypogammaglobulinemia and poor response to vaccines. Its diagnosis is made based on clinical and immunological criteria, after exclusion of other diseases that can cause similar phenotypes. Currently, less than 20% of cases of CVID have a known underlying genetic cause. Read More
Orv Hetil 2018 Jun;159(23):919-928
Klinikai Immunológiai, Felnőtt- és Gyermekreumatológiai Osztály, Országos Reumatológiai és Fizioterápiás Intézet Budapest, Frankel Leó út 38-40., 1023.
Primary immune deficiencies (PIDs) are characterized by quantitative and/or functional abnormalities of the immune system elements. Bone and joint abnormalities are not rare in patients with immunodeficiencies. Joint manifestations, of which arthritis is the most common, occur mainly in humoral PIDs (X-linked agammaglobulinemia, common variable immunodeficiency, and IgA deficiency) and occasionally in defects of the phagocyte system (chronic granulomatous disease, glicogen storage diseases). Read More
Pediatr Blood Cancer 2018 Jun 1:e27260. Epub 2018 Jun 1.
Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati,, Ohio.
Children, adolescents, and young adults with chronic refractory autoimmune cytopenias represent a rare but challenging group of patients, who are managed frequently by pediatric hematologists. Novel diagnostic tests and genomic discoveries are refining historical diagnoses of Evans syndrome and common variable immunodeficiency, while also elucidating the cellular and molecular basis for these disorders. Genetic characterization of chronic and refractory autoimmune cytopenias has led to targeted therapies with improved clinical outcomes and fewer off-target toxicities. Read More
ACG Case Rep J 2018 23;5:e40. Epub 2018 May 23.
Division of Gastroenterology, Wayne State University School of Medicine, Detroit, Michigan.
Common variable immunodeficiency (CVID) is a heterogeneous disorder with decreased production of immunoglobulins that presents with recurrent and serious infections in ∼90% of cases. Review of the literature showed only 12 cases of gastrointestinal infection of cytomegalovirus in patients with CVID. We present an unusual case of a CVID patient presenting with new-onset hematochezia. Read More
Int J Pediatr 2018 23;2018:3527480. Epub 2018 Apr 23.
Department of Pediatric Allergy and Immunology, Necmettin Erbakan University Meram Faculty of Medicine, Konya, Turkey.
Background: Common variable immunodeficiency (CVID) is a primary immunodeficiency disorder (PID) that typically presents with hypogammaglobulinemia and impaired antibody production.
Objectives: This study aimed to promote the awareness of CVID, whose clinical spectrum is quite broad.
Methods: The demographic, clinical, and laboratory characteristics of 12 children (seven males and five females) with CVID were analyzed retrospectively. Read More
J Clin Endocrinol Metab 2018 May 28. Epub 2018 May 28.
Department of Endocrinology and Metabolism, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Context: Acquired generalized lipodystrophy (AGL), a rare disorder characterized by loss of subcutaneous adipose tissue, is estimated to occur in association with autoimmune diseases in approximately 25% of the cases. Common variable immunodeficiency (CVI) is a condition known for its strong association with autoimmune diseases often occurring with negative autoantibodies. We describe here the first known case of AGL in a patient with CVI. Read More
Expert Rev Clin Immunol 2018 May 28. Epub 2018 May 28.
a Department of Virology and Immunology Auckland City Hospital , Auckland 1010 , New Zealand.
Introduction: Common Variable Immunodeficiency Disorders (CVID) are the most frequent symptomatic primary immune defect in adults. Within the broad spectrum of CVID, a proportion of patients present with a predominant T cell phenotype associated with increased mortality. These patients are termed late onset combined immunodeficiency (LOCID) and are currently separated from patients suffering from CVID. Read More
Am J Ophthalmol Case Rep 2018 Jun 28;10:18-24. Epub 2018 Jan 28.
Department of Ophthalmology, McGill Academic Eye Centre, 5252 Boulevard de Maisonneuve West, 4th Floor, Montréal, Québec H4A 3S5, Canada.
Purpose: To report the longest ophthalmic follow-up and the associated ocular complications of HLA-A29 negative Birdshot-like chorioretinopathy (BLCR) associated with common variable immunodeficiency (CVID).
Observations: A 22-year-old man known for CVID presented with a 3-month history of decreased visual acuity OS. Funduscopy revealed significant cystoid macular edema OS, as well as optic disk edema and chorioretinal infiltrates without signs of vitritis OU. Read More
Front Pediatr 2018 4;6:130. Epub 2018 May 4.
Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo, Brazil.
Mutations in the CD40 ligand (CD40L) gene () lead to X-linked hyper-IgM syndrome (X-HIGM), which is a primary immunodeficiency (PID) characterized by decreased serum levels of IgG and IgA and normal or elevated IgM levels. Although most X-HIGM patients become symptomatic during the first or second year of life, during which they exhibit recurrent infections, some patients exhibit mild phenotypes, which are usually associated with hypomorphic mutations that do not abrogate protein expression or function. Here, we describe a 28-year-old man who initially presented with recurrent infections since the age of 7 years, when he exhibited meningitis caused by . Read More
Front Immunol 2018 4;9:931. Epub 2018 May 4.
Department of Immunology and Microbiology, The Scripps Research Institute, La Jolla, CA, United States.
One of the most paramount receptor-induced signal transduction mechanisms in hematopoietic cells is production of the lipid second messenger phosphatidylinositol(3,4,5)trisphosphate (PIP) by class I phosphoinositide 3 kinases (PI3K). Defective PIP signaling impairs almost every aspect of hematopoiesis, including T cell development and function. Limiting PIP signaling is particularly important, because excessive PIP function in lymphocytes can transform them and cause blood cancers. Read More
J Allergy Clin Immunol 2018 May 18. Epub 2018 May 18.
Department of Pediatrics, Tokyo Medical and Dental University (TMDU), Tokyo, Japan.
Background: Activated phosphatidylinositol-3-OH kinase δ syndrome type 1 (APDS1) is a recently described primary immunodeficiency syndrome characterized by recurrent respiratory tract infections, lymphoid hyperplasia, and Herpesviridae infections caused by germline gain-of-function mutations of PIK3CD. Hematopoietic stem cell transplantation (HSCT) can be considered to ameliorate progressive immunodeficiency and associated malignancy, but appropriate indications, methods, and outcomes of HSCT for APDS1 remain undefined.
Objective: Our objective was to analyze the clinical manifestations, laboratory findings, prognosis, and treatment of APDS1 and explore appropriate indications and methods of HSCT. Read More
Iran J Allergy Asthma Immunol 2018 Apr;17(2):188-200
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran AND Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.
Common variable immunodeficiency (CVID) is the most common clinical primary antibody deficiency, characterized by increased susceptibility to recurrent bacterial infections. Since Toll-like receptors (TLRs) play an important role in the maturation and differentiation of B-cells, TLRs' defect can be involved in the pathogenesis of CVID. Therefore, we evaluated the expression of TLR2 and TLR4 and their signaling pathway; also their association with autoimmunity, B-cell subtypes and response to pneumovax-23 were assessed in CVID patients. Read More
J Immunol Res 2018 15;2018:5841031. Epub 2018 Mar 15.
Medical Sciences Postgraduate Program, Department of Clinical Medicine, Federal University of Ceará, Fortaleza, CE, Brazil.
Introduction: Common variable immunodeficiency (CVID) comprises a heterogeneous group of disorders characterized by impaired antibody production. Kidney involvement in CVID is described in isolated and sporadic case reports. The objective of this study was to study the renal function pattern in CVID patients through glomerular and tubular function tests. Read More
J Allergy Clin Immunol 2018 May 4. Epub 2018 May 4.
Center for Chronic Immunodeficiency (CCI), Medical Center-University of Freiburg, Faculty of Medicine, University of Freiburg, Freiburg, Germany; Institute of Immunology and Transplantation, Royal Free Hospital, University College London, London, United Kingdom. Electronic address:
Background: Cytotoxic T-lymphocyte antigen 4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in human subjects.
Objective: We sought to characterize the penetrance, clinical features, and best treatment options in 133 CTLA4 mutation carriers. Read More
Hum Immunol 2018 Jul 27;79(7):571-577. Epub 2018 Apr 27.
EA3963, Université Paris 7 Denis Diderot, Centre Hayem, Hôpital Saint-Louis, 1 Avenue Claude Vellefaux, 75010 Paris, France; Département d'Immunologie Clinique, Hôpital Saint-Louis, AP-HP, 1 Avenue Claude Vellefaux, 75010 Paris, France.
The precise diagnosis of an immunodeficiency is sometimes difficult to assess, especially due to the large spectrum of phenotypic variation reported among patients. Common variable immunodeficiency disorders (CVID) do not have, for a large part, an identified genetic cause. The identification of a causal genetic mutation is important to confirm, or in some cases correct, the diagnosis. Read More
Gastroenterol Hepatol 2018 Apr 21. Epub 2018 Apr 21.
Sección de Gastroenterología, Hospital Clínico Universidad de Chile, Santiago, Chile. Electronic address:
J Allergy Clin Immunol 2018 Apr 17. Epub 2018 Apr 17.
Division of Clinical Immunology and Transfusion Medicine, Department of Laboratory Medicine, Karolinska Institutet, Stockholm, Sweden; Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Karolinska University Hospital, Campus Flemingsberg, Stockholm, Sweden.
Background: A subgroup of patients with common variable immunodeficiencies (CVIDs) responds to vaccination. The aim of this study was to try to identify predictive markers for those with a humoral immune response after influenza vaccination.
Methods: Forty-eight patients with CVID (29 female and 19 male patients; mean age, 57. Read More
Front Immunol 2018 5;9:568. Epub 2018 Apr 5.
Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
Activated PI3Kδ syndrome (APDS) is a primary immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and defective IgG production. Heterozygous mutations in , or , which are related to the hyperactive phosphoinositide 3-kinase (PI3K) signaling, were recently presented to cause APDS1 or APDS2 (APDSs), or APDS-like (APDS-L) disorder. In this study, we examined the AKT phosphorylation of peripheral blood lymphocytes and monocytes in patients with APDSs and APDS-L by using flow cytometry. Read More
Medicina (B Aires) 2018 ;78(2):123-126
Unidad Inmunología e Histocompatibilidad, Hospital Dr. Carlos G. Durand, Buenos Aires, Argentina.
WHIM syndrome is a primary autosomal dominant immuno deficiency due to CXCR4 mutations characterized by mucocutaneous warts, hypogammaglobulinemia, recurrent bacterial infections and myelokathesis. Treatment consists in prophylactic antibiotics, immunoglobulin replacement and granulocyte or granulocyte/monocyte colony stimulating factors. We present the case of a 21 year old woman who showed leukopenia at 10 months of age and one year later multiple infections with hypogammaglobulinemia requiring intravenous immunoglobulin. Read More
Endocr Metab Immune Disord Drug Targets 2018 Apr 12. Epub 2018 Apr 12.
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences Tehran, 455. Iran.
Background: Primary antibody deficiency (PAD) comprises a range of diseases from early to late terminal B cells defects and is associated with the various clinical complications.
Methods: A total of 461 patients (311 males and 150 females) with PADs enrolled in the retrospective cohort study and for all patients' demographic information, clinical records and laboratory data were collected to investigate clinical complications.
Results: The most prevalent first presentations of immunodeficiency were respiratory tract infections in 63. Read More
PLoS One 2018 11;13(4):e0193122. Epub 2018 Apr 11.
Internal Medicine Department, Rennes University Hospital, Rennes, France.
Background: Sarcoidosis is a systemic granulomatous disease which carries variable outcomes. Serum protein electrophoresis is an easily accessible and routinely performed examination at diagnosis, in order to search for hypergammaglobulinemia, which is frequently found, and to rule out other granulomatous diseases such as common variable immunodeficiency. We aimed to assess the impact of baseline immunoglobulin level on the outcome of sarcoidosis. Read More
Curr HIV Res 2018 Apr 9. Epub 2018 Apr 9.
Pediatrics-Infectious Diseases, Stanford University, Stanford, CA . United States.
Background: Instrumental variable (IV) analyses are a common causal inference technique used in the absence of randomized data. Combination antiretroviral therapy (cART) was first introduced in 1996 and calendar periods have been used as a proxy for cART use. However, cART use misclassification can bias IV analyses. Read More
J Clin Immunol 2018 Apr 4;38(3):283-293. Epub 2018 Apr 4.
Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Purpose: The point prevalence of underweight status and obesity in primary immunodeficiency disease (PID) is unknown, despite the described associations between PID and weight loss and failure to thrive. The goal of this study is to estimate the prevalence of underweight status and obesity in PID patients and to investigate the associations between abnormal body weight and complications of PID.
Methods: Using the US Immunodeficiency Network (USIDNET), we performed a retrospective analysis of 653 pediatric (age 2 to 20 years) and 514 adult (age > 20) patient records with information on patient body mass index (BMI). Read More
Genes Immun 2018 Apr 5. Epub 2018 Apr 5.
Immunology Research Center (IRC), Institute of Immunology and Infectious Diseases, Iran University of Medical Sciences, Tehran, Iran.
Common variable immunodeficiency (CVID), a clinically symptomatic primary immunodeficiency disease (PID), is characterized by hypogammaglobulinemia leading to recurrent infections and various complications. Recently, some defects in the signaling of TLRs have been identified in CVID patients which led us to investigate the expression of TLR4 and 9 negative regulatory molecules and their upregulation status following their activation. Using TaqMan real-time PCR, SOCS1, TNFAIP3, RFN216, and IRAK-M transcripts among peripheral blood mononuclear cells (PBMCs) were measured with/without TLR4 and 9 activations. Read More
Rinsho Ketsueki 2018 ;59(3):293-299
Department of Hematology/Oncology, Wakayama Medical University.
Common variable immunodeficiency (CVID) is the most frequently diagnosed congenital immunodeficiency and is characterized by dysfunctional antibody production. It often occurs at the age of ≥10 years. Here we reported a case of a 46-year-old man confirmed with adult-onset CVID. Read More
J Matern Fetal Neonatal Med 2018 Apr 3:1-5. Epub 2018 Apr 3.
c Department of Comprehensive Reproductive Medicine , Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University , Tokyo , Japan.
Immunoglobulin replacement therapy, including intravenous immunoglobulin (IVIG), is essential for pregnant women with common variable immunodeficiency (CVID) since it prevents infection and improves the health of the newborn. There are no established IVIG treatment protocols for pregnant women with CVID, and the relationship between IVIG treatment and maternal serum IgG changes during pregnancy remains unclear. Therefore, we reviewed the medical charts of four CVID patients, including one receiving subcutaneous immunoglobulin (SCIG), for IVIG dose and frequency, maternal serum IgG changes, obstetrical findings, and perinatal outcomes. Read More
Semin Arthritis Rheum 2018 Feb 23. Epub 2018 Feb 23.
Divisions of Rheumatology and Allergy and Clinical Immunology, Johns Hopkins University School of Medicine, Baltimore, MD.
Patients with common variable immunodeficiency (CVID) have a higher incidence of rheumatologic disorders. To delineate this clinical association, we investigated the phenotypic features of patients with CVID affected by these conditions.
Methods: We conducted a retrospective analysis of 870 pediatric and adult patients with CVID included in the United States Immunodeficiency Network (USIDNET) registry. Read More
Scand J Immunol 2018 May;87(5):e12663
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Common variable immunodeficiency (CVID) is the most prevalent symptomatic type of human primary immunodeficiency diseases (PID). Clinically, CVID is characterized by increased susceptibility to infections and a wide variety of autoimmune and rheumatologic disorders. All patients with CVID registered in Iranian PID Registry (IPIDR) were enrolled in this retrospective cohort study. Read More
Diagn Cytopathol 2018 Mar 23. Epub 2018 Mar 23.
Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota.
Urinary tract blastomycosis is an uncommon manifestation of disseminated Blastomyces infection. Here, we report a 50-year-old male with common variable immunodeficiency who presented with urinary symptoms and a renal mass concerning for a kidney neoplasm. Urine cytology revealed typical broad-based budding yeasts with thick-walled refractile capsules, leading to diagnosis of urinary tract blastomycosis. Read More
BMJ Case Rep 2018 Mar 20;2018. Epub 2018 Mar 20.
Department of Internal Medicine, Berkshire Medical Center, Pittsfield, Massachusetts, USA.
Common variable immunodeficiency (CVID) refers to a group of disorders where differentiation and maturation of B cells into plasma cells are affected, leading to decreased or defective immunoglobulin production and subsequent immunodeficiency. Symptoms may present at any age between 5 and 72 years, although more severe forms often manifest earlier in life. Milder forms may not be detected. Read More
Iran J Immunol 2018 Mar;15(1):1-13
Department of Pediatric Allergy and Immunology, Dr. Behcet Uz Children's Hospital, Izmir, Turkey.
Background: Patients with unclassified hypogammaglobulinemia (UCH) constitute a diagnostic and therapeutic dilemma, because information concerning the clinical and immunological characteristics of these patients is insufficient.
Objective: To evaluate B-cell subsets in cases with UCH and common variable immunodeficiency (CVID) and their association with treatment requirement in UCH patients.
Methods: The study included 41 UCH, 25 CVID, and 36 healthy individuals between the ages of 4-18 years. Read More
J Vasc Access 2018 Jul 15;19(4):375-377. Epub 2018 Mar 15.
1 Department of Medicine, Brookwood Medical Center, Birmingham, AL, USA.
Background: We sought to learn more about the utility and safety of implanted ports for monthly immunoglobulin G infusions in adults with primary immune deficiency.
Methods: We reviewed charts of adults who were referred to a single practice during the interval 2006-2016 for evaluation and management of frequent or severe upper and lower respiratory tract and other infections, subnormal total immunoglobulin G or immunoglobulin G subclasses, and suboptimal responses to polyvalent pneumococcal polysaccharide vaccinations; were diagnosed to have primary immune deficiency; and were advised to undergo immunoglobulin G therapy.
Results: Of 606 patients, 20 (19 women, 1 man; 16 immunoglobulin G subclass deficiency, 4 common variable immunodeficiency; 3. Read More
Pediatr Allergy Immunol 2018 Jun 17;29(4):425-432. Epub 2018 Apr 17.
Allergy and Clinical Immunology Department, Institut de Recerca Pediàtrica Hospital Sant Joan de Déu, Esplugues de Llobregat, Spain.
Background: One of the most frequent non-infectious complications of humoral immunodeficiencies with a CVID-like pattern is a particular form of inflammatory lung disease which is called granulomatous-lymphocytic interstitial lung disease (GLILD). Its development worsens patient prognosis, with a significant decrease in survival. Currently, there are no unified guidelines regarding its management, and different combinations of immunosuppressants have been used with variable success. Read More
World J Gastroenterol 2018 Mar;24(9):1035-1045
Department of Gastroenterology, Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310052, Zhejiang Province, China.
Aim: To analyze clinical differences between monogenic and nonmonogenic very-early-onset inflammatory bowel disease (VEO-IBD) and to characterize monogenic IBD phenotypically and genotypically genetic testing.
Methods: A retrospective analysis of children aged 0 to 6 years diagnosed with VEO-IBD in a tertiary hospital in southern China from 2005 to 2017 was performed. Clinical data for VEO-IBD patients were collected, and genetic characteristics were analyzed using whole exome sequencing or target gene panel sequencing. Read More
Eur J Pharm Sci 2018 Jun 6;118:80-86. Epub 2018 Mar 6.
Division of Pediatric Allergy/Immunology, John H. Stroger, Jr. Hospital of Cook County, 1969 W. Ogden Ave., Chicago, IL 60612, USA; Rush University Medical Center, 1653 W. Congress Parkway, Chicago, IL 60612, USA. Electronic address:
Intravenous immunoglobulin (IVIG) therapy is commonly used to treat patients with primary antibody deficiency. This prospective, open-label, non-randomised, multicentre, phase III trial investigated the pharmacokinetics of a new 10% liquid IVIG product (panzyga®; Octapharma) in 51 patients aged 2-75 years with common variable immunodeficiency (n = 43) or X-linked agammaglobulinaemia (n = 8). Patients were treated with IVIG 10% every 3 (n = 21) or 4 weeks (n = 30) at a dose of 200-800 mg/kg for 12 months. Read More
Ugeskr Laeger 2018 Feb;180(9)
Primary antibody deficiency syndromes (PAD) are a group of primary immunodeficiencies (PID) characterized by reduced production of immunoglobulins and recurrent respiratory tract infections. PAD varies from rare but life-threatening agammaglobulinaemias to frequent but often asymptomatic conditions such as selective immunoglobulin(Ig)A deficiency or IgG subclass deficiency. Common variable immunodeficiency is the clinically most important PAD. Read More
Cent Eur J Immunol 2017 30;42(4):336-341. Epub 2017 Dec 30.
Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Introduction: Primary immunodeficiency diseases (PIDs) are a heterogeneous group of genetic immune disorders. PID patients suffer from a variety of complications. The aim of this study was to determine the infectious and non-infectious complications among PID patients. Read More
J Allergy Clin Immunol 2018 Mar 2. Epub 2018 Mar 2.
NIHR BioResource-Rare Diseases, Cambridge Biomedical Campus, Cambridge, United Kingdom.
Background: The genetic cause of primary immunodeficiency disease (PID) carries prognostic information.
Objective: We conducted a whole-genome sequencing study assessing a large proportion of the NIHR BioResource-Rare Diseases cohort.
Methods: In the predominantly European study population of principally sporadic unrelated PID cases (n = 846), a novel Bayesian method identified nuclear factor κB subunit 1 (NFKB1) as one of the genes most strongly associated with PID, and the association was explained by 16 novel heterozygous truncating, missense, and gene deletion variants. Read More
Cent Eur J Immunol 2017 30;42(4):412-417. Epub 2017 Dec 30.
Ternopil Regional Children's Hospital, Ukraine.
22q11.2 deletion syndrome (22q11.2 DS) is a disorder that has multiple symptoms and affects various organs and systems. Read More
J Clin Immunol 2018 Apr 17;38(3):225-233. Epub 2018 Feb 17.
Department of Medicine, University of Virginia, Box 801355, Charlottesville, VA, 22908, USA.
Although small prior studies have suggested that IgE can be low in common variable immunodeficiency (CVID), the workup for patients with recurrent infections and suspected hypogammaglobulinemia does not include the routine measurement of serum IgE. We sought to test the hypothesis that low/undetectable serum IgE is characteristic of CVID by comparing the frequency of low/undetectable serum IgE in healthy controls and patients with CVID. We measured total serum IgE in a large multi-center cohort of patients with CVID (n = 354) and compared this to large population-based cohorts of children and adults. Read More
Front Immunol 2017 26;8:1965. Epub 2018 Jan 26.
School of Biological Sciences, University of Auckland, Auckland, New Zealand.
The existence of epistasis in humans was first predicted by Bateson in 1909. Epistasis describes the non-linear, synergistic interaction of two or more genetic loci, which can substantially modify disease severity or result in entirely new phenotypes. The concept has remained controversial in human genetics because of the lack of well-characterized examples. Read More
J Allergy Clin Immunol 2018 Feb 9. Epub 2018 Feb 9.
Department of Pediatric Immunology and Laboratory of Translational Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, The Netherlands. Electronic address:
Background: Proline-serine-threonine phosphatase interacting protein 1 (PSTPIP1) is a cytosolic adaptor protein involved with T-cell activation, differentiation, and migration. On cognate T-cell contact, PSTPIP1 is recruited to surface-expressed CD2, where it regulates F-actin remodeling. An immune synapse (IS) is thereby rapidly formed, consisting of T-cell receptor clusters surrounded by a ring of adhesion molecules, including CD2. Read More
Ann Allergy Asthma Immunol 2018 Apr;120(4):444
University Hospitals, Cleveland Medical Center, Cleveland, Ohio; Allergy/Immunology Association, Inc, Mayfield Heights, Ohio.
Front Immunol 2017 18;8:1978. Epub 2018 Jan 18.
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
Nuclear factor kappa-light-chain-enhancer of activated B cells 1 (NF-κB1)-related human primary immune deficiencies have initially been characterized as defining a subgroup of common variable immunodeficiencies (CVIDs), representing intrinsic B-cell disorders with antibody deficiency and recurrent infections of various kind. Recent evidence indicates that NF-κB1 haploinsufficiency underlies a variable type of combined immunodeficiency (CID) affecting both B and T lymphocyte compartments, with a broadened spectrum of disease manifestations, including Epstein-Barr virus (EBV)-induced lymphoproliferative disease and immediate life-threatening consequences. As part of this review series focused on EBV-related primary immunodeficiencies, we discuss the current clinical and molecular understanding of monoallelic germline mutations with special focus on the emerging context of EBV-associated disease. Read More