XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease
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DOI：
10.1182/blood-2010-01-256099
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发表时间：
2010-08-19
期刊：
影响因子：
20.3
通讯作者：
Filipovich, Alexandra H.
中科院分区：
文献类型：
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作者：
Marsh, Rebecca A.;Madden, Lisa;Filipovich, Alexandra H.
X连锁凋亡抑制因子(XIAP)缺乏，由BIRC4突变引起，被认为是引起X连锁淋巴增生性疾病(XLP)的表型。然而，与SLAM相关蛋白缺乏(SH2D1A突变)引起的XLP相比，XIAP缺乏最初被观察到与高发生率的噬血细胞淋巴组织细胞增多症(HLH)和缺乏淋巴瘤相关，这表明XIAP缺乏作为XLP的原因可能并不完全准确。为了进一步确定XIAP缺乏症的特征，我们回顾了来自8个BIRC4突变家系的10名患者的经验。10例患者中有9例在8岁前发生HLH。大多数患者在婴儿期起病，复发的HLH很常见。没有淋巴瘤病例。在XIAP缺乏症中没有观察到淋巴细胞缺陷，认为在SLAM相关蛋白缺乏症中，淋巴细胞缺陷有助于HLH的发育。我们得出结论，XIAP缺陷是一种独特的原发免疫缺陷，更恰当地将其归类为X连锁家族性噬血细胞淋巴组织细胞增多症。(血。2010；116(7)：1079-1082)
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. (Blood. 2010;116(7):1079-1082)