Clinical analysis of 10 cases of severe combined immunodeficiency disease / 中国小儿急救医学

ABSTRACT

Objective To improve the pediatrician's understanding of severe combined immunodefi-ciency disease (SCID),so as to strengthen the early diagnosis and treatment of SCID. Methods The clinical manifestations,related immunological findings,imaging findings and outcomes of 10 SCID children admitted to our hospital from 2007 to 2018 were retrospectively analyzed. Results The clinical manifestations of primary SCID were frequent infections shortly after birth. There were 8 males and 2 females in this study. The average age of onset was 4. 2 months,and the average age of diagnosis was 6 months. Eight cases of thymus shadow were absent,9 cases of pulmonary CT showed severe pneumonia,and 3 cases of pulmonary fungal infection. Six of 7 children died of infection and the age of death was less than 1 year old. Laboratory exami-nation showed that 10 patients had abnormal cell and humoral immune function;10 cases of CD3 +T cells were <20%,3 cases of CD16 +CD56 +( NK%) >85%,7 cases ≤ 2%. There was an increase in B cell reactivity of 7 cases,but the secretion of immunoglobulin in 5 cases was significantly reduced. Seven cases of IgG<2. 0 g/L,3 cases>2. 0 g/L. Eight cases were confirmed of the primary SCID by genetic testing. Con-clusion The clinical manifestations of SCID are frequent bacterial,viral and fungal infections in a short time after birth. In clinical work,when small infants are repeatedly infected after birth,or multiple sites are serious-ly infected and prolonged,we must think of the possibility of SCID and timely related immune function tests, strive to achieve early diagnosis,timely treatment,and early bone marrow stem cell transplantation.