Articles with "igm syndrome" as a keyword



Disseminated cryptococcosis in two boys with novel mutation of CD40 Ligand-Associated X-linked hyper-IgM syndrome.

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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

Case Report: CD40LG Arg203Ile variant underlies atypical phenotype of X-linked hyper IgM syndrome

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Published in 2025 at "Frontiers in Immunology"

DOI: 10.3389/fimmu.2025.1572791

Abstract: Hyper IgM syndrome (HIGM) is a rare immunodeficiency caused by impaired immunoglobulin class switching, leading to recurrent infections. The present report describes the case of an 18-year-old man initially diagnosed with common variable immunodeficiency at… read more here.

Keywords: report; arg203ile variant; hyper igm; case ... See more keywords