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重症联合免疫缺陷病(SCID)是一类以X-连锁或常染色体隐性方式遗传的异质性病症。在常染色体隐性SCID中约有20%的病例是由于缺乏嘌呤降解酶和腺苷脱氨酶所致,这种类型易区别。就所有类型的SCID而言,受累男性与受累女性之比约为4∶1。所以,有60%的病例必属X-连锁型。由于在X-连锁型家系中,肯定携带者女性无免疫学异常,故一直无法将X-连锁遗传和常染色体遗传区别开来。
Severe combined immunodeficiency disease (SCID) is a type of heterogeneous disorder that is inherited in an X-linked or autosomal recessive manner. Approximately 20% of autosomal recessive SCID cases are due to lack of purine degrading enzyme and adenosine deaminase, a type that is easy to distinguish. For all types of SCIDs, the ratio of affected men to affected women is about 4: 1. Therefore, 60% of the cases must be X-linked. Because of the absence of immunological abnormalities in affirmative carriers in the X-linked pedigree, it has not been possible to distinguish X-linked inheritance from autosomal inheritance.