XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease

Blood - Tập 116 Số 7 - Trang 1079-1082 - 2010
Rebecca Marsh1, Lisa Madden2, Brenda J. Kitchen2, Rajen Mody2, Brad McClimon3, Michael B. Jordan1,4, Jack J. Bleesing1, Kejian Zhang5, Alexandra H. Filipovich1
1Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, OH;
2Division of Pediatric Hematology/Oncology, C. S. Mott Children's Hospital, Ann Arbor, MI;
3Medical Associates, Dubuque, IA;
4Division of Immunobiology, Cincinnati Children's Hospital Medical Center, OH; and
5Division of Human Genetics, Cincinnati Children's Hospital Medical Center, OH

Tóm tắt

Abstract 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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Tài liệu tham khảo

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Blood

Tập 116 Số 7

1079-1082

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