Clinical manifestation and outcome of 21 newborns with human inborn error of immunity / 中国小儿急救医学

ABSTRACT

Objective:To explore the clinical characteristics and prognosis of children with inborn error of immunity (IEI) onset in the neonatal period.Methods:The clinical data of 21 cases of IEI neonates admitted to the Neonatal Center of Beijing Children′s Hospital were collected, and their clinical manifestations, peripheral blood test characteristics, genetic diagnosis, and primary disease during hospitalization were collected.The prognosis follow-up results were summarized and analyzed.Results:Twenty-one children with IEI were finally diagnosed by whole exome sequencing, including 15 cases of primary immunodeficiency(including 6 cases of chronic granulomatous disease, 3 cases of DiGeogre syndrome, 2 cases of Wiskott-Aldrich syndrome, 2 cases of severe combined immunodeficiency disease, 1 case of selective IgA deficiency, and 1 case of ectodermal dysplasia with immunodeficiency), 5 cases of infantile inflammatory bowel disease, and 1 case of familial haemophagocytic lymphohistiocytosis.Clinical manifestations of sepsis and colitis were the most common(accounting for 12/21), and 16/21 of the children had an increase in the absolute value of eosinophils(>0.5×10 9/L). Children received hematopoietic stem cell transplantation accounted for 7/21, and the median time of receiving transplantation was 11 months after birth.By the time of follow-up, the primary disease remission after hematopoietic stem cell transplantation accounted for 5/7.Among them, 2 cases were diagnosed with CGD associated inflammatory bowel disease before transplantation, and the primary disease resolved after hematopoietic stem cell transplantation.Of the 14 children who did not receive hematopoietic stem cell transplantation, 10 children died.Five of the 11 deaths were treated with systematic steroid before diagnosised. Conclusion:The clinical manifestations of IEI in the neonatal period are not specific.Sepsis and colitis are the most common manifestations.Most of the cases have elevated eosinophils in the peripheral blood.Systematic streoid therapy needs to be cautious, and timely evaluation for hematopoietic stem cells transplantation is an effective option to resolution.