ArticleJournal of clinical immunology2007
Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.
Article in Journal of clinical immunology, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Phenotypic Heterogeneity in CD40 Ligand Deficiency: Long-term Follow-up of a Patient with the c.156G > A Splice Variant.Journal of clinical immunology · 2026Article
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- Case Report:Frontiers in immunology · 2025Article
- Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases.Pathogens (Basel, Switzerland) · 2023Review
- CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.Journal of clinical immunology · 2022Article
- The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.Immunologic research · 2022Article
- Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.Frontiers in immunology · 2022Article
- CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.Molecular genetics & genomic medicine · 2021Article
- Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.Frontiers in immunology · 2020Article
- Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying DisseminatedFrontiers in immunology · 2019Article
- Gastrointestinal histoplasmosis ileal stricture successfully treated with through-the-scope balloon dilation in a patient with hyperimmunoglobulin M syndrome.Clinical journal of gastroenterology · 2018Article
- A NovelFrontiers in pediatrics · 2018Article
- Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.Frontiers in immunology · 2017Review
- First Case ofFrontiers in pediatrics · 2017Article
- Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Immunological reviews · 2015Review
- First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.Journal of clinical immunology · 2014Article
- Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.Journal of immunology research · 2014Article
- Severity of symptom flare after moderate exercise is linked to cytokine activity in chronic fatigue syndrome.Psychophysiology · 2010Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CD40 ligand (CD40L) deficiency is an X-linked combined immunodeficiency characterized by impaired class switch recombination. We analyzed clinical and molecular findings in 11 Argentinian patients from seven unrelated families. The mean age at onset of symptoms was 1.1 years (0.5-3.0 years) and the 10 alive patients have a median age of 17 years. We identified two nonsense mutations, including R11X reported as a "hypomorphic" defect, four missense mutations, and one point deletion. Although R11X was associated herein with parvovirus B19-anemia and higher Igs levels as previously described, histoplasmosis and Pneumocystis jiroveci pneumonia were also present. Other so-called "milder" mutation, T254M, was present in three related patients clinically and immunologically undistinguishable from the rest of the cohort. Furthermore, 10 of the 11 patients, having heterogeneous mutations, never had persistent neutropenia, none presented Cryptosporidium sp. infection nor developed liver-biliary tract disease, highlighting the debatable concept of "milder" mutations.
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