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Omenn Syndrome in Two Infants with Different Hypomorphic Variants in Janus Kinase 3.
J Clin Immunol
April 2024
Paediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Victoria Wing, Royal Victoria Infirmary, Newcastle Upon Tyne, NE1 4LP, UK.
Biallelic null or hypomorphic variants in JAK3 cause SCID and less frequently Omenn syndrome. We investigated homozygous hypomorphic JAK3 mutations in two patients, and expression and function of a novel JAK3 variant in Omenn syndrome. Immunophenotyping of PBMC from the patient with the novel JAK3 variant was undertaken, by flow cytometry and Phosflow after stimulation with IL-2, IL-7, and IL-15.
View Article and Find Full Text PDFmutation alters immune system activation, inflammation, and risk of autoimmunity.
Mult Scler
August 2021
Istituto di Ricerca Genetica e Biomedica (IRGB), Consiglio Nazionale delle Ricerche (CNR), Cittadella Universitaria di Monserrato, Monserrato, Italy.
Background: Defective alleles within the gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder characterized by massive release of cytokines-cytokine storm.
Objective: The aim of this study was to determine the function of hypomorph g.72360387 G > A on multiple sclerosis (MS) and type 1 diabetes (T1D).
Essential cell-extrinsic requirement for PDIA6 in lymphoid and myeloid development.
J Exp Med
April 2020
Center for the Genetics of Host Defense, University of Texas Southwestern Medical Center, Dallas, TX.
In a forward genetic screen of N-ethyl-N-nitrosourea (ENU)-induced mutant mice for aberrant immune function, we identified mice with a syndromic disorder marked by growth retardation, diabetes, premature death, and severe lymphoid and myeloid hypoplasia together with diminished T cell-independent (TI) antibody responses. The causative mutation was in Pdia6, an essential gene encoding protein disulfide isomerase A6 (PDIA6), an oxidoreductase that functions in nascent protein folding in the endoplasmic reticulum. The immune deficiency caused by the Pdia6 mutation was, with the exception of a residual T cell developmental defect, completely rescued in irradiated wild-type recipients of PDIA6-deficient bone marrow cells, both in the absence or presence of competition.
View Article and Find Full Text PDFHypomorphic interleukin-7 receptor α-chain mutations and T-cell deficiency: a delay in diagnosis.
Ann Allergy Asthma Immunol
July 2015
Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, Maryland.
Hypomorphic MGAT5 polymorphisms promote multiple sclerosis cooperatively with MGAT1 and interleukin-2 and 7 receptor variants.
J Neuroimmunol
March 2013
Department of Neurology, University of California, Irvine, CA 92869, USA.
Deficiency of the Golgi N-glycan branching enzyme Mgat5 in mice promotes T cell hyperactivity, endocytosis of CTLA-4 and autoimmunity, including a spontaneous multiple sclerosis (MS)-like disease. Multiple genetic and environmental MS risk factors lower N-glycan branching in T cells. These include variants in interleukin-2 receptor-α (IL2RA), interleukin-7 receptor-α (IL7RA), and MGAT1, a Golgi branching enzyme upstream of MGAT5, as well as vitamin D3 deficiency and Golgi substrate metabolism.
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