Associated Papers
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome.
Nishikawa T et al.
Frontiers in Immunology, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T et al.
Nature, 2023
Respiratory infections in X-linked hyper-IgM syndrome with CD40LG mutation: a case series of seven children in China.
Fan H et al.
Bmc Pediatrics, 2022
A single-center study points to diverse features and outcome in patients with Hyperimmunoglobulin M Syndrome and Class- Switch Recombination defects.
Akarsu A et al.
Scandinavian Journal of Immunology, 2022
CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics.
França TT et al.
Journal of Clinical Immunology, 2022
Progressive choreodystonia in X-linked hyper-IgM immunodeficiency: a rare but recurrent presentation.
Škorvánek M et al.
Annals of Clinical and Translational Neurology, 2022
The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.
Halacli SO
Immunologic Research, 2022
Variants Disrupting CD40L Transmembrane Domain and Atypical X-Linked Hyper-IgM Syndrome: A Case Report With Leishmaniasis and Review of the Literature.
Palterer B et al.
Frontiers in Immunology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in 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
Clinical, genetic and immunological characteristics of 40 Chinese patients with CD40 ligand deficiency.
Du X et al.
Scandinavian Journal of Immunology, 2019
Circulating Follicular Helper and Follicular Regulatory T Cells Are Severely Compromised in Human CD40 Deficiency: A Case Report.
Cicalese MP et al.
Frontiers in Immunology, 2018
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Leven EA et al.
Journal of Clinical Immunology, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients.
Tsai HY et al.
Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2015
c.761C>T Mutation Linked Hyper IgM Syndrome Presenting with Hypertransaminasemia and Arthritis.
Celiksoy MH et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2014
Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation.
van Zelm MC et al.
The Journal of Allergy and Clinical Immunology, 2014
First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.
Cabral-Marques O et al.
Journal of Clinical Immunology, 2014
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 Taiwanese patients with the hyper IgM syndrome phenotype.
Lee WI et al.
The Pediatric Infectious Disease Journal, 2013
Cholangiocarcinoma complicating secondary sclerosing cholangitis from cryptosporidiosis in an adult patient with CD40 ligand deficiency: case report and review of the literature.
Rahman M et al.
International Archives of Allergy and Immunology, 2012
Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations.
Aghamohammadi A et al.
Journal of Clinical Immunology, 2009
Analysis of genetic defects in patients with the common variable immunodeficiency phenotype in a single Taiwanese tertiary care hospital.
Lee WI et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology, 2007
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
The structural basis of hyper IgM deficiency - CD40L mutations.
Thusberg J et al.
Protein Engineering, Design & Selection : Peds, 2007
Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome.
Lee WI et al.
Blood, 2005
Hyper-IgM syndrome: a case report.
Wang IJ et al.
Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2003
The 78C --> T (T254M) XHIM mutation: lack of a tight phenotype-genotype relationship.
de Vries E et al.
Blood, 1999
CD40 ligand mutants responsible for X-linked hyper-IgM syndrome associate with wild type CD40 ligand.
Seyama K et al.
The Journal of Biological Chemistry, 1999
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
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Nonoyama S et al.
Human Genetics, 1997
Identification of residues on CD40 and its ligand which are critical for the receptor-ligand interaction.
Bajorath J et al.
Biochemistry, 1995