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XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
Open accessAbstract
X-linked inhibitor of apoptosis (XIAP) deficiency, caused by BIRC4 mutations, is described to cause X-linked lymphoproliferative disease (XLP) phenotypes. However, compared with XLP caused by SLAM-Associated Protein deficiency (SH2D1A mutation), XIAP deficiency was originally observed to be associated with a high incidence of hemophagocytic lymphohistiocytosis (HLH) and a lack of lymphoma, suggesting that classification of XIAP deficiency as a cause of XLP may not be entirely accurate. To further characterize XIAP deficiency, we reviewed our experience with 10 patients from 8 unrelated families with BIRC4 mutations. Nine of 10 patients developed HLH by 8 years of age. Most patients presented in infancy, and recurrent HLH was common. There were no cases of lymphoma. Lymphocyte defects thought to contribute to HLH development in SLAM-Associated Protein deficiency were not observed in XIAP deficiency. We conclude that XIAP deficiency is a unique primary immunodeficiency that is more appropriately classified as X-linked familial hemophagocytic lymphohistiocytosis.
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Cited by
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Ravelli, A., Grom, A. A., Behrens, E. M., & Cron, R. Q. (2012) · Genes & Immunity · doi:10.1038/gene.2012.3 · Cited by 386
The Ubiquitin Ligase XIAP Recruits LUBAC for NOD2 Signaling in Inflammation and Innate Immunity
Damgaard, R. B., Nachbur, U., Yabal, M., Wong, W. W.-L., Fiil, B. K., Kastirr, M., Rieser, E., Rickard, J. A., Bankovacki, A., Peschel, C., et al. (2012) · Molecular Cell · doi:10.1016/j.molcel.2012.04.014 · Cited by 375
Bryceson, Y. T., Pende, D., Maul-Pavicic, A., Gilmour, K. C., Ufheil, H., Vraetz, T., Chiang, S. C., Marcenaro, S., Meazza, R., Bondzio, I., et al. (2012) · Blood · doi:10.1182/blood-2011-08-374199 · Cited by 310
Marsh, R. A., Vaughn, G., Kim, M.-O., Li, D., Jodele, S., Joshi, S., Mehta, P. A., Davies, S. M., Jordan, M. B., Bleesing, J. J., et al. (2010) · Blood · doi:10.1182/blood-2010-04-282392 · Cited by 276
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Metadata
- Authors
- Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R., McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K., & Filipovich, A. H.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 2010-08-19
- Volume
- 116
- Issue
- 7
- Pages
- 1079-1082
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W1988042498
- Cited by
- 264
- References
- 0
- FWCI
- 10.60
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Marsh, R. A., Madden, L., Kitchen, B. J., Mody, R., McClimon, B., Jordan, M. B., Bleesing, J. J., Zhang, K., & Filipovich, A. H. (2010). XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. https://doi.org/10.1182/blood-2010-01-256099
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