hyperimmunoglobulin M syndrome

initialism: HIGM
https://doi.org/10.1351/goldbook.13239
Primary T cell defect due to mutations in the CD40 ligand (CD40L), characterized by recurrent (opportunistic) infections and very low levels of immunoglobulin G (IgG) and immunoglobulin A (IgA).
Note: Autoimmune manifestations (e.g., cytopenia, arthritis, sclerosing cholangitis) are often seen.
Source:
PAC, 2012, 84, 1113. (IUPAC glossary of terms used in immunotoxicology (IUPAC Recommendations 2012)) on page 1180 [Terms] [Paper]
Citation: 'hyperimmunoglobulin M syndrome' in IUPAC Compendium of Chemical Terminology, 5th ed. International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. https://doi.org/10.1351/goldbook.13239 RIS BibTex EndNote
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