Primary defects of cellular immunity
Matching the organism to the broken pathway in T-cell and innate cellular defects, with the conditions adults present with (22q11.2 deletion, chronic mucocutaneous candidiasis, mycobacterial susceptibility, hyper-IgE syndromes, GATA2 deficiency, XLP, idiopathic CD4 lymphocytopenia and anti-cytokine autoantibodies).
Tier 1Condition
Written with AI assistance and fact-checked against the sources below. For exam study, not clinical decisions. How notes are made
At a glance
- T cells and NK cells clear viruses, fungi, mycobacteria and other intracellular organisms. Their defects present with opportunistic infection, severe or persistent viral disease, or infection with a vaccine strain.
- The organism points to the pathway. Disseminated mycobacteria: IL-12/IFN-gamma. Mucocutaneous Candida: IL-17. Severe EBV or HLH: cytotoxic lymphocytes.
- Many defects also cause autoimmunity, lymphoproliferation or cancer.
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Sources
- Primary Immunodeficiencies (PID) Clinical UpdateAU/NZASCIA (Australasian Society of Clinical Immunology and Allergy), 2025
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee (Poli MC et al. J Hum Immun 2025;1(1):e20250003)International Union of Immunological Societies, 2024 update (published April 2025)
- The 2024 update of IUIS phenotypic classification of human inborn errors of immunity (Bousfiha A et al. J Hum Immun 2025;1(1):e20250002)International Union of Immunological Societies, 2024 update (published April 2025)
- Anti-interferon-gamma autoantibodies in adults with disseminated nontuberculous mycobacterial infections (Browne SK et al. N Engl J Med 2012;367:725-34)NEJM, 2012
- GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity (Spinner MA et al. Blood 2014;123:809-21)Blood, 2014
- Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype (Toubiana J et al. Blood 2016;127:3154-64)Blood, 2016
- STAT3 mutations in the hyper-IgE syndrome (Holland SM et al. N Engl J Med 2007;357:1608-19)NEJM, 2007
- Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features (Bustamante J et al. Semin Immunol 2014;26:454-70)Seminars in Immunology, 2014
- Last updated
- 14 November 2026
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