Buckley R H, Schiff R I, Schiff S E, Markert M L, Williams L W, Harville T O, Roberts J L, Puck J M
Department of Pediatrics, Duke University Medical Center, Durham, North Carolina 27710, USA.
J Pediatr. 1997 Mar;130(3):378-87. doi: 10.1016/s0022-3476(97)70199-9.
To determine the relative frequencies of the different genetic forms of severe combined immunodeficiency (SCID) and whether there are distinctive characteristics of the particular genotypes.
The demographic, genetic, and immunologic features of 108 infants with SCID who were treated consecutively at Duke University Medical Center were analyzed.
Eighty-nine subjects were boys and 19 were girls; there were 84 white infants, 16 black infants, and 8 Hispanic infants. Forty-nine had X-linked SCID with mutations of common cytokine receptor gamma chain (gamma c), 16 had adenosine deaminase (ADA) deficiency, 8 had Janus kinase 3 (Jak3) deficiency, 21 had unknown autosomal recessive mutations, 1 had reticular dysgenesis, 1 had cartilage hair hypoplasia, and 12 (all boys) had SCID of undetermined type. Deficiency of ADA caused the most profound lymphopenia; gamma c or Jak3 deficiency resulted in the most B cells and fewest natural killer (NK) cells; NK cells and function were highest in autosomal recessive and unknown types of SCID.
Different SCID genotypes are associated with distinctive lymphocyte characteristics. The presence of NK function in ADA-deficient, autosomal recessive, and unknown type SCIDs, and low NK function in a majority of gamma c and Jak3 SCIDs indicates that some molecular lesions affect T, B, and NK cells (gamma c and Jak3), others primarily T cells (ADA deficiency), and others just T and B cells.
确定重症联合免疫缺陷（SCID）不同基因形式的相对频率，以及特定基因型是否具有独特特征。
分析了在杜克大学医学中心连续接受治疗的108例SCID婴儿的人口统计学、遗传学和免疫学特征。
89例为男孩，19例为女孩；有84例白人婴儿、16例黑人婴儿和8例西班牙裔婴儿。49例患有X连锁SCID，伴有常见细胞因子受体γ链（γc）突变；16例患有腺苷脱氨酶（ADA）缺乏症；8例患有Janus激酶3（Jak3）缺乏症；21例有未知的常染色体隐性突变；1例患有网状发育不全；1例患有软骨毛发发育不全；12例（均为男孩）SCID类型未确定。ADA缺乏导致最严重的淋巴细胞减少；γc或Jak3缺乏导致B细胞最多，自然杀伤（NK）细胞最少；NK细胞及其功能在常染色体隐性和未知类型的SCID中最高。
不同的SCID基因型与独特的淋巴细胞特征相关。ADA缺乏型、常染色体隐性和未知类型的SCID中存在NK功能，而大多数γc和Jak3型SCID中NK功能较低，这表明一些分子病变影响T、B和NK细胞（γc和Jak3），另一些主要影响T细胞（ADA缺乏），还有一些只影响T和B细胞。
