ArticleJournal of clinical immunology2014
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 83 citations in OpenAlex.
- Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.Immunologic research · 2019Trial
- Harnessing pro-inflammatory and immunopathologic immune responses in urinary tract infections for vaccine development: it's all about a balance.Frontiers in immunology · 2026Review
- Computational analysis of CD40L missense variants A123E, S222F, and G257R predicts altered CD40 binding and trimeric stability in X-linked hyper-IgM syndrome.Frontiers in immunology · 2026Article
- The Latin American Society for Immunodeficiencies Registry.Journal of clinical immunology · 2024Article
- Elevated levels of enteric IgA in an unimmunised mouse model of Hyper IgM syndrome derived from gut-associated secondary lymph organs even in the absence of germinal centres.Frontiers in cellular and infection microbiology · 2023Article
- Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.BMC pediatrics · 2022Article
- CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.Journal of clinical immunology · 2022Article
- Review
- CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.Molecular genetics & genomic medicine · 2021Article
- A Next-Generation Sequencing Test for Severe Congenital Neutropenia: Utility in a Broader Clinicopathologic Spectrum of Disease.The Journal of molecular diagnostics : JMD · 2021Article
- Chronic Lung Disease in Primary Antibody Deficiency: Diagnosis and Management.Immunology and allergy clinics of North America · 2020Review
- Genetic susceptibility to EBV infection: insights from inborn errors of immunity.Human genetics · 2020Review
- X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis-a Case Report.Journal of clinical immunology · 2020Article
- Immune dysregulation in patients with RAG deficiency and other forms of combined immune deficiency.Blood · 2020Review
- Respiratory Complications in Patients with Hyper IgM Syndrome.Journal of clinical immunology · 2019Article
- Flow Cytometry Contributions for the Diagnosis and Immunopathological Characterization of Primary Immunodeficiency Diseases With Immune Dysregulation.Frontiers in immunology · 2019Review
- Detection ofInfection and drug resistance · 2019Article
- CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-γ.The Journal of allergy and clinical immunology · 2018Article
- Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India.Clinical immunology (Orlando, Fla.) · 2018Article
- Disseminated Cutaneous Warts in X-Linked Hyper IgM Syndrome.Journal of clinical immunology · 2018Review
Corrections and comments
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Authors and funding
47 authors at 20 institutions in 12 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hyper-IgM (HIGM) syndrome is a heterogeneous group of disorders characterized by normal or elevated serum IgM levels associated with absent or decreased IgG, IgA and IgE. Here we summarize data from the HIGM syndrome Registry of the Latin American Society for Immunodeficiencies (LASID). Of the 58 patients from 51 families reported to the registry with the clinical phenotype of HIGM syndrome, molecular defects were identified in 37 patients thus far. We retrospectively analyzed the clinical, immunological and molecular data from these 37 patients. CD40 ligand (CD40L) deficiency was found in 35 patients from 25 families and activation-induced cytidine deaminase (AID) deficiency in 2 unrelated patients. Five previously unreported mutations were identified in the CD40L gene (CD40LG). Respiratory tract infections, mainly pneumonia, were the most frequent clinical manifestation. Previously undescribed fungal and opportunistic infections were observed in CD40L-deficient patients but not in the two patients with AID deficiency. These include the first cases of pneumonia caused by Mycoplasma pneumoniae, Serratia marcescens or Aspergillus sp. and diarrhea caused by Microsporidium sp. or Isospora belli. Except for four CD40L-deficient patients who died from complications of presumptive central nervous system infections or sepsis, all patients reported in this study are alive. Four CD40L-deficient patients underwent successful bone marrow transplantation. This report characterizes the clinical and genetic spectrum of HIGM syndrome in Latin America and expands the understanding of the genotype and phenotype of this syndrome in tropical areas.
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