Abstract
BackgroundPrimary immunodeficiency disease (PID) is a disorder caused by an inherited flaw in the immune system that increases the susceptibility to infections.MethodsIn this study, 112 children with PID were diagnosed and classified based on the 2017 criteria presented by the International Union of Immunological Societies (IUIC) in a single tertiary care center from January 2013 to November 2018. We retrospectively studied the clinical features of those PID children and followed-up them as well.ResultsIt was revealed that male/female ratio was 6:1. The most frequent diagnosed PID was severe combined immunodeficiency (SCID) (28.6%) and hyper-IgM (HIGM) syndrome (24.1%), followed by predominantly antibody deficiencies (17.8%). Combined immunodeficiencies with associated or syndromic features (12.5%) and congenital defects of phagocyte number, function, or both (10.7%) were less common in our center compared with SCID and HIGM syndrome. Besides, we found that 20 children (17.8%) had a positive family history of PID, and almost all cases (97.3%) had a history of recurrent infection. Recurrent respiratory tract infection was among the most common symptoms, followed by the bacterial infection of the skin and mucous membranes and diarrhea. Additionally, adverse event following immunization (AEFI) was found in 20.5% of the patients, and immune disorder was commonly observed in PID patients. In the present study, 47 patients underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), and 2-year overall survival (OS) rate for these patients was 78.7% (37/47). It is noteworthy that OS widely differed among PID patients with different phenotypes who underwent allo-HSCT. The 2-year OS rate for SCID, HIGM syndrome, and the remaining of PID patients who underwent allo-HSCT was 14.3, 83.3, and 100%, respectively.ConclusionsPID typically emerges at early age. Recurrent infection and serious infection were the most common clinical manifestations. Allo-HSCT is a relatively effective therapeutic strategy for PID patients.
Highlights
Primary immunodeficiency disease (PID) is a disorder caused by an inherited flaw in the immune system that increases the susceptibility to infections
As a result, delayed diagnosis or misdiagnosis are quite common in clinical practice, which may lead to the poor outcomes for children with PID
Demographic features of PID patients Frequency and distribution of PID Diagnosis was based on clinical, immunological, and genetic testing, and 112 patients were diagnosed with PID in our hospital from January 2013 to November 2018
Summary
Primary immunodeficiency disease (PID) is a disorder caused by an inherited flaw in the immune system that increases the susceptibility to infections. Primary immunodeficiency disease (PID) refers to a heterogeneous group of over 130 disorders that result from defects in immune system development and/or function. With the development and use of flow cytometry and genetic technology for clinical diagnosis, diagnostic rate of PID has been markedly increased in China. 354 distinct disorders with 344 different gene defects have been identified in patients with PID [1]. Physicians or general practitioners may not able to recognize PID because of rarity of those diseases, in developing countries (e.g., China) [2, 3]. As a result, delayed diagnosis or misdiagnosis are quite common in clinical practice, which may lead to the poor outcomes for children with PID. We retrospectively analyzed the clinical features and prognosis of 112 PID children over a 6-year period in a single tertiary care center to strengthen our understanding about PID
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