Chronic granulomatous disease and leucocyte adhesion deficiency
The two classic phagocyte function defects. CGD (NADPH oxidase, catalase-positive and fungal infection, granulomas, DHR test, co-trimoxazole, itraconazole and PBS interferon gamma, HSCT) and LAD (CD18 loss, neutrophilia without pus, delayed cord separation, periodontitis, ustekinumab, HSCT and the first gene therapy).
Tier 2Condition
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At a glance
Both are inherited defects of neutrophil function with a normal or high neutrophil count. Low counts are covered in neutropenia.
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Sources
- Primary Immunodeficiencies (PID) Clinical UpdateAU/NZASCIA (Australasian Society of Clinical Immunology and Allergy), 2025
- PBS item 5769P: interferon gamma-1b (Imukin), chronic granulomatous diseaseAU/NZPharmaceutical Benefits Scheme, 2026
- How I Treat: Chronic granulomatous disease (Leiding JW et al. J Hum Immun 2026;2(3):e20250162)Journal of Human Immunity, 2026
- Chronic granulomatous disease (Leiding JW, Holland SM. GeneReviews)University of Washington, Seattle, Revised January 2026
- 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)
- A controlled trial of interferon gamma to prevent infection in chronic granulomatous disease (International CGD Cooperative Study Group. N Engl J Med 1991;324:509-16)NEJM, 1991
- Itraconazole to prevent fungal infections in chronic granulomatous disease (Gallin JI et al. N Engl J Med 2003;348:2416-22)NEJM, 2003
- Residual NADPH oxidase and survival in chronic granulomatous disease (Kuhns DB et al. N Engl J Med 2010;363:2600-10)NEJM, 2010
- Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease (Güngör T et al. Lancet 2014;383:436-48)The Lancet, 2014
- X-linked carriers of chronic granulomatous disease: illness, lyonization, and stability (Marciano BE et al. J Allergy Clin Immunol 2018;141:365-71)Journal of Allergy and Clinical Immunology, 2018
- International clinical consensus on leukocyte adhesion deficiency-I: modified Delphi analysis (Heimall J et al. J Allergy Clin Immunol Glob 2026;5(3):100682)Journal of Allergy and Clinical Immunology Global, 2026
- Lentiviral gene therapy for severe leukocyte adhesion deficiency type 1 (Booth C et al. N Engl J Med 2025;392:1698-1709)NEJM, 2025
- FDA approves first gene therapy for severe leukocyte adhesion deficiency type IUS Food and Drug Administration, March 2026
- Interleukin-12 and interleukin-23 blockade in leukocyte adhesion deficiency type 1 (Moutsopoulos NM et al. N Engl J Med 2017;376:1141-6)NEJM, 2017
- Last updated
- 14 November 2026
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