Health Conditions Related to Genetic Changes
X-linked lymphoproliferative disease
XIAP gene mutations have been identified in some people with X-linked lymphoproliferative disease (XLP). These mutations reduce or eliminate production of the XIAP protein. It is unknown how a lack of XIAP protein results in the signs and symptoms of XLP, including a proliferation of lymphocytes that destroys blood-forming cells and damages the liver and other organs (hemophagocytic lymphohistiocytosis).
More About This Health ConditionOther Names for This Gene
- API3
- apoptosis inhibitor 3
- baculoviral IAP repeat-containing protein 4
- BIRC4
- hILP
- IAP-like protein, human
- mammalian IAP homolog A
- MIHA
- X-linked inhibitor of apoptosis protein
- X-linked inhibitor of apoptosis, E3 ubiquitin protein ligase
- XIAP_HUMAN
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Holcik M, Gibson H, Korneluk RG. XIAP: apoptotic brake and promising therapeutic target. Apoptosis. 2001 Aug;6(4):253-61. doi: 10.1023/a:1011379307472. Citation on PubMed
- Latour S. Natural killer T cells and X-linked lymphoproliferative syndrome. Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):510-4. doi: 10.1097/ACI.0b013e3282f1bad6. Citation on PubMed
- Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010 Aug 19;116(7):1079-82. doi: 10.1182/blood-2010-01-256099. Epub 2010 May 20. Citation on PubMed or Free article on PubMed Central
- Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH. Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations. Clin Immunol. 2009 Jul;132(1):116-23. doi: 10.1016/j.clim.2009.03.517. Epub 2009 Apr 23. Citation on PubMed or Free article on PubMed Central
- Rigaud S, Fondaneche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006 Nov 2;444(7115):110-4. doi: 10.1038/nature05257. Citation on PubMed
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.