Niehues T, Schwarz K, Schneider M, Schroten H, Schröder E, Stephan V, Wahn V
Department of Paediatrics, University of Düsseldorf, Germany.
Arch Dis Child. 1996 Apr;74(4):340-2. doi: 10.1136/adc.74.4.340.
A case of severe combined immunodeficiency (SCID) in monozygotic twin sisters was detected at 3 months of age with neutropenia in one twin and a normal differential count in the other. The neutropenic twin, suffering from severe skin ulcers, was successfully treated with granulocyte colony stimulating factor (G-CSF). Discordant occurrence of neutropenia in identical twins shows that there may be a non-genetic cause for the neutropenia in SCID. Suppression of myelopoiesis was probably induced by activated maternal T cells. The neutropenia in this case may thus be classified as SCID associated neutropenia, as opposed to reticular dysgenesis, in which the neutropenia is G-CSF refractory and is most probably caused by a genetic stem cell defect. A response to G-CSF in a neutropenic child with SCID can be clinically beneficial and might help to distinguish between G-CSF unresponsive reticular dysgenesis and G-CSF responsive SCID associated neutropenia.
一对单卵双胞胎姐妹在3个月大时被检测出患有严重联合免疫缺陷（SCID），其中一个双胞胎中性粒细胞减少，另一个的白细胞分类计数正常。患有严重皮肤溃疡的中性粒细胞减少双胞胎成功接受了粒细胞集落刺激因子（G-CSF）治疗。同卵双胞胎中中性粒细胞减少的不一致发生表明，SCID中的中性粒细胞减少可能存在非遗传原因。骨髓生成的抑制可能是由活化的母体T细胞诱导的。因此，该病例中的中性粒细胞减少可归类为SCID相关中性粒细胞减少，与网状发育不全相反，在网状发育不全中，中性粒细胞减少对G-CSF难治，很可能是由遗传干细胞缺陷引起的。SCID中性粒细胞减少患儿对G-CSF的反应在临床上可能有益，并且可能有助于区分对G-CSF无反应的网状发育不全和对G-CSF有反应的SCID相关中性粒细胞减少。
