Associated Papers
Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome.
Nishikawa T et al.
Frontiers in Immunology, 2025
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
CD40LG mutations in Vietnamese patients with X-linked hyper-IgM syndrome; catastrophic anti-phospholipid syndrome as a new complication.
Phan ANL et al.
Molecular Genetics & Genomic Medicine, 2021
Case Report: Hyper IgM Syndrome Identified by Whole Genome Sequencing in a Young Syrian Man Presenting With Atypical, Severe and Recurrent Mucosal Leishmaniasis.
Drabe CH et al.
Frontiers in Immunology, 2020
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
Karanovic D et al.
Frontiers in Immunology, 2019
A Novel de Novo Mutation in the CD40 Ligand Gene in a Patient With a Mild X-Linked Hyper-IgM Phenotype Initially Diagnosed as CVID: New Aspects of Old Diseases.
França TT et al.
Frontiers in Pediatrics, 2018
An X-Linked Hyper-IgM Patient Followed Successfully for 23 Years without Hematopoietic Stem Cell Transplantation.
Kutukculer N et al.
Case Reports in Immunology, 2018
Phenotypic heterogeneity in a family with a CD40 ligand intracellular domain mutation.
Kiani-Alikhan S et al.
Journal of Clinical Immunology, 2012
Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene.
Yong PF et al.
Journal of Clinical Pathology, 2008
Clinical follow-up of 11 Argentinian CD40L-deficient patients with 7 unique mutations including the so-called "milder" mutants.
Danielian S et al.
Journal of Clinical Immunology, 2007
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Lee WI et al.
Blood, 2005
Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
Seyama K et al.
Blood, 1998
Parvovirus B19-induced anemia as the presenting manifestation of X-linked hyper-IgM syndrome.
Seyama K et al.
The Journal of Infectious Diseases, 1998
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