Division of Allergy and Immunology, The Children's Hospital Of Philadelphia, Philadelphia, PA 19104, USA.
J Clin Immunol. 2012 Oct;32(5):1141-4. doi: 10.1007/s10875-012-9741-9. Epub 2012 Aug 3.
Two infants are described who presented with 22q11.2 deletion and a T(-)B(-)NK(+) immune phenotype. For both infants, the initial diagnosis was athymia secondary to complete DiGeorge anomaly. The first infant underwent thymus transplantation but 6 months after transplantation had circulating thymus donor T cells; the patient did not develop recipient naïve T cells. Genetic analyses revealed that both patients had Artemis deficiency, a rare form of severe combined immunodeficiency (SCID). Both infants have subsequently undergone bone marrow transplantation. These cases illustrate the importance and paradox of differentiating SCID from complete DiGeorge anomaly because hematopoietic stem cell transplantation (HSCT) is the preferred treatment for SCID but is ineffective for complete DiGeorge anomaly. However, if the thymus is completely absent, donor stem cells from a HSCT would not be able to be educated.
现介绍 2 例携带 22q11.2 缺失和 T(-)B(-)NK(+)免疫表型的婴儿。2 例患儿的初始诊断均为因完全 DiGeorge 异常导致的无胸腺，随后进行了胸腺移植。但其中 1 例患儿在移植后 6 个月时已出现循环供体 T 细胞，未产生受者幼稚 T 细胞。遗传学分析显示，2 例患儿均存在 Artemis 缺陷，这是一种罕见的严重联合免疫缺陷（SCID）形式。此后，2 例患儿均接受了骨髓移植。这些病例说明了区分 SCID 和完全 DiGeorge 异常的重要性和矛盾性，因为造血干细胞移植（HSCT）是 SCID 的首选治疗方法，但对完全 DiGeorge 异常无效。然而，如果胸腺完全缺失，来自 HSCT 的供体干细胞将无法得到教育。
