Childhood choreoathetosis secondary to hyper-IgM syndrome (CD40 ligand deficiency)
نویسندگان
چکیده
منابع مشابه
Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand.
X-linked hyper IgM syndrome (XHM) is a combined immune deficiency disorder caused by genetic alterations in CD40 ligand. The purpose of this study was to investigate the safety and efficacy of recombinant CD40 ligand (rCD40L) in the treatment of the disease. Three children were administered rCD40L subcutaneously 3 times per week at 0.03 mg/kg for 22 weeks, and after a 12-week drug-free interval...
متن کاملCD40 ligand-deficient T cells from X-linked hyper-IgM syndrome carriers have intrinsic priming capability.
Deficiency in CD40 ligand (CD40L) expression is associated with impaired T cell immunity in mouse models and in humans. Previous studies have indicated that this is due to the failure of induction of extrinsic costimulatory molecules. However, other studies have suggested that CD40L is an intrinsic costimulatory molecule. The X-linked hyper-IgM syndrome (XHIM) is a primary immunodeficiency caus...
متن کاملMutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome.
X-linked hyper IgM syndrome (XHIM) is a primary immunodeficiency disorder caused by mutations of the gene encoding CD40 ligand (CD40L). We correlated mutations of the CD40L gene, CD40L expression, and the clinical manifestations observed in XHIM patients from 30 families. The 28 unique mutations identified included 9 missense, 5 nonsense, 9 splice site mutations, and 5 deletions/insertions. In ...
متن کاملCLINICAL TRIALS AND OBSERVATIONS Partial immune reconstitution of X-linked hyper IgM syndrome with recombinant CD40 ligand
1Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD; 2Department of Critical Care Medicine, NIH Clinical Center, Bethesda, MD; 3Metabolism Branch, National Cancer Institute (NCI), Bethesda, MD; 4Laboratory of Immunoregulation, NIAID, NIH, Bethesda, MD; 5Laboratory of Pathology, NCI, Bethesda, MD; 6Amgen, ...
متن کاملA novel mutation in the CD40 ligand gene in a Chinese boy with X-linked hyper-IgM syndrome.
X-linked hyper-IgM Syndrome (XHIGM) is caused by a mutation of CD40 ligand (CD40L), which is normally expressed on activated CD4+ T cells and is responsible for immunoglobulin class switching. A 7-year-old boy with recurrent sino-pulmonary infections since the age of 3 months had normal CD3+, CD4+, CD8+T lymphocytes, and CD19+B lymphocytes and NK cells, but significantly elevated IgM and extrem...
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ژورنال
عنوان ژورنال: Neurology - Neuroimmunology Neuroinflammation
سال: 2020
ISSN: 2332-7812
DOI: 10.1212/nxi.0000000000000899