Nezelof C, Martin G, Pruvost J
Ann Genet. 1979;22(3):137-42.
Congenital immunologic deficiencies and congenital dwarfisms represent two seemingly unrelated disorders. Here is reported the tenth case of a definite congenital and fatal syndrome associating a severe combined immunologic deficiency and a micromelic dwarfism, affecting mainly the proximal limbs, as well as an ichtyosiform and furrowed skin disorder. Although the adenosine deaminase activity has not been determined in this patient, a 4-month old boy, this syndrome seems to be different from cases of ADA negative SCID. The associated impairment of growth and immunity emphasizes once more the close genetic linkage existing between the development of the skeleton and the lymphoid tissue.
先天性免疫缺陷和先天性侏儒症是两种看似不相关的病症。本文报道了第十例明确的先天性致命综合征，该综合征合并严重联合免疫缺陷和短肢侏儒症，主要影响近端肢体，同时伴有鱼鳞病样和皱襞皮肤病症。尽管尚未测定这名4个月大男童患者的腺苷脱氨酶活性，但该综合征似乎与腺苷脱氨酶阴性重症联合免疫缺陷的病例不同。生长和免疫方面的相关损害再次强调了骨骼发育与淋巴组织之间存在的紧密遗传联系。
