Early diagnosis of severe combined immunodeficiency syndrome.

摘要: Infants with severe combined immunodeficiency syndrome (SCIDS) have a greatly improved prognosis if diagnosed and treated before they develop overwhelming infection. Clinical laboratory data on 45 patients SCIDS were retrospectively reviewed to assess the value of absolute lymphocyte counts in making an early diagnosis. Ninety infants matched for age, sex, presenting symptoms used as controls. Thirteen (29%) at birth previous siblings had been affected; 32 (71%) after development symptoms. Eighteen (56%) these remained undiagnosed until 6 months age. The first occurred median 5 weeks (range 1 day 8 months) admission hospital was 4 week 16 months). Symptoms included respiratory infection (91%), vomiting diarrhoea (81%), failure thrive (88%), candidiasis (50%), skin lesions (28%). mean count 1.71 x 10(9)/l compared 7.2 Excluding one child Omenn's (lymphocyte 23.3 10(9)/l, all symptomatic less than 2.8 presentation. delay between abnormal diagnosis seven 13 Twenty eight (88%) would age investigated low count. These indicate that are predictive SCIDS. Paediatricians urged pay attention whom full blood is performed. Those persistently 10(9)l should be