Associated Papers
Acquired Renal Amyloidosis in a Patient With X-Linked Hyper-IgM Immunodeficiency With Novel Hemizygotic Pathogenic Variant in CD40LG Gene.
Celis-Giraldo D et al.
Case Reports in Nephrology, 2025
Clinically relevant germline variants in allogeneic hematopoietic stem cell transplant recipients.
Lahtinen AK et al.
Bone Marrow Transplantation, 2023
36195768 (PubMed )
Supplement: 41409_2022_1828_MOESM1_ESM.docx
Exome sequencing contributes to identify comorbidities in a rare case of infant ARDS induced by the CD40LG mutation.
Gong X et al.
Bmc Medical Genomics, 2022
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.
França TT et al.
Journal of Clinical Immunology, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
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
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
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 delayed diagnosis of X-linked hyper IgM syndrome complicated with toxoplasmic encephalitis in a child: A case report and literature review.
Liu X et al.
Medicine, 2017
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back again.
Hirbod-Mobarakeh A et al.
Expert Review of Clinical Immunology, 2014
Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome.
Wang LL et al.
Journal of Immunology Research, 2014
Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome.
Erdos M et al.
Molecular Immunology, 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
Retrospective diagnosis of X-linked hyper-IgM syndrome in a family with multiple deaths of affected males.
Erdos M et al.
Haematologica, 2007
Mutational screening of the CD40 ligand (CD40L) gene in patients with X linked hyper-IgM syndrome (XHIM) and determination of carrier status in female relatives.
Prasad ML et al.
Journal of Clinical Pathology, 2005
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Nonoyama S et al.
Human Genetics, 1997
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