DOCK2 Deficiency in a Patient with Hyper IgM Phenotype
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-017-0468-5
Abstract: To the Editor, Combined immunodeficiencies (CIDs) consist of a group of disorders characterized by defects in the quantity and/or function of T cells along with defects in antibody-mediated responses (1). DOCK2 deficiency is a type… read more here.
Keywords: hyper igm; dock2 deficiency; immunology;
Diagnosis of Hyper IgM syndrome in a Previously Healthy Adolescent Boy Presented with Cutaneous and Cerebral Cryptococcosis.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Infectious Disease Journal"
DOI: 10.1097/inf.0000000000002945
Abstract: X-linked hyper IgM (X-HIGM) syndrome is a combined immunodeficiency disease caused by mutations in the CD40LG gene, leading to a defect in immunoglobulin (Ig) class switching recombination and effector T-cell responses. X-HIGM patients usually present… read more here.
Keywords: previously healthy; hyper igm; cryptococcosis; presented cutaneous ... See more keywords
Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.
Sign Up to like & getrecommendations! Published in 2018 at "Asian Pacific Journal of Allergy and Immunology"
DOI: 10.12932/ap-140218-0265
Abstract: X-linked hyper-IgM syndrome (XHIM) caused by CD40L mutations is a primary immunodeficiency condition that increases susceptibility to opportunistic infections. Disseminated cryptococcosis in XHIM is rarely reported in children. Here, we report two related boys who… read more here.
Keywords: boys novel; disseminated cryptococcosis; igm syndrome; cryptococcosis ... See more keywords