ArticleJournal of clinical immunology2012
Expanding the clinical and genetic spectrum of human CD40L deficiency: the occurrence of paracoccidioidomycosis and other unusual infections in Brazilian patients.
Article in Journal of clinical immunology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 56 citations in OpenAlex.
- Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2024Pooled it
- Novel nonsense IL-12Rβ1 mutation associated with recurrent tuberculosis.Immunologic research · 2019Trial
- Human immunity to fungal infections.The Journal of experimental medicine · 2025Review
- 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
- CD40L modulates transcriptional signatures of neutrophils in the bone marrow associated with development and trafficking.JCI insight · 2021Article
- Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying DisseminatedFrontiers in immunology · 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
- A NovelFrontiers in pediatrics · 2018Article
- Soluble CD40L is associated with increased oxidative burst and neutrophil extracellular trap release in Behçet's disease.Arthritis research & therapy · 2017Article
- Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.Journal of clinical immunology · 2017Review
- Cellular and Molecular Defects Underlying Invasive Fungal Infections-Revelations from Endemic Mycoses.Frontiers in immunology · 2017Review
- X-linked Hyper IgM Syndrome Presenting as Pulmonary Alveolar Proteinosis.Journal of clinical immunology · 2016Article
- Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.The Journal of experimental medicine · 2016Article
- Flow Cytometry, a Versatile Tool for Diagnosis and Monitoring of Primary Immunodeficiencies.Clinical and vaccine immunology : CVI · 2016Review
- EPIDEMIOLOGY OF PARACOCCIDIOIDOMYCOSIS.Revista do Instituto de Medicina Tropical de Sao Paulo · 2015Article
- Low-level laser therapy to the mouse femur enhances the fungicidal response of neutrophils against Paracoccidioides brasiliensis.PLoS neglected tropical diseases · 2015Article
- Resistance to P. brasiliensis Experimental Infection of Inbred Mice Is Associated with an Efficient Neutrophil Mobilization and Activation by Mediators of Inflammation.Mediators of inflammation · 2015Article
- The relevance of collaborative work: the Latin American Society for Immunodeficiencies (LASID) registry model.Clinical and experimental immunology · 2014Article
- ICON: the early diagnosis of congenital immunodeficiencies.Journal of clinical immunology · 2014Review
Corrections and comments
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Authors and funding
15 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CD40 ligand (CD40L) deficiency or X-linked hyper-IgM syndrome (X-HIGM) is a well-described primary immunodeficiency in which Pneumocystis jiroveci pneumonia is a common clinical feature. We have identified an unusual high incidence of fungal infections and other not yet described infections in a cohort of 11 X-HIGM patients from nine unrelated Brazilian families. Among these, we describe the first case of paracoccidioidomycosis (PCM) in X-HIGM. The molecular genetic analysis of CD40L was performed by gene sequencing and evaluation of CD40L protein expression. Nine of these 11 patients (82%) had fungal infections. These included fungal species common to CD40L deficiency (P. jiroveci and Candida albicans) as well as Paracoccidioides brasiliensis. One patient presented with PCM at age 11 years and is now doing well at 18 years of age. Additionally, one patient presented with a simultaneous infection with Klebsiella and Acinetobacter, and one with condyloma caused by human papilloma virus. Molecular analysis revealed four previously described CD40L mutations, two novel missense mutations (c.433 T > G and c.476 G > C) resulting in the absence of CD40L protein expression by activated CD4(+) cells and one novel insertion (c.484_485insAA) within the TNFH domain leading to a frame shift and premature stop codon. These observations demonstrated that the susceptibility to fungal infections in X-HIGM extends beyond those typically associated with X-HIGM (P. jiroveci and C. albicans) and that these patients need to be monitored for those pathogens.
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Registered trials
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