Associated Papers
The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.
Halacli SO
Immunologic Research, 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
Hyper IgM Syndrome: a Report from the USIDNET Registry.
Leven EA et al.
Journal of Clinical Immunology, 2016
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.
Woon ST et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2016
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
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
The clinical utility of molecular diagnostic testing for primary immune deficiency disorders: a case based review.
Ameratunga R et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2010
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
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
Mutations of the CD40 ligand gene in 13 Japanese patients with X-linked hyper-IgM syndrome.
Nonoyama S et al.
Human Genetics, 1997