Clinical characteristics and genetic profiles of non Bruton's tyrosine kinase gene mutation agammaglobulinemia
WU Jing,ZHANG Hui,GONG Ruo-lan,et al
WU Jing 1, 2,ZHANG Hui 1,GONG Ruo-lan 1,CHEN Tong-xin 1,2(1.Division of Immunology, Institute of Pediatric Translational Medicine,Shanghai Jiaotong University School of Medicine, Shanghai 200025, China 2.Department of Allergy and Immunology, Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai 200127,China)
Abstract: Objective We retrospectively reviewed 8 patients diagnosed as agammaglobulinemia but without Bruton's tyrosine kinase (BTK) gene mutation, summarized their clinical manifestations and genetic features. Method We collected 8 patients who were diagnosed as agammaglobulinemia but no BTK gene mutation found in Shanghai Children's Medical Center from January 2005 to December 2010, analyzed their clinical and laboratory data. PCR followed by direct sequencing to analyze four common disease causing genes including IGHM, IGLL1, CD79a and CD79b. Results 8 patients were diagnosed as non BTK gene mutation agammaglobulinemia, the ratio of male to female patients is 3:1. The mean age of onset was （3.7±2.4）years. All of the patients have long-term recurrent infections, the most common symptom were pneumonia and upper respiratory tract infection. IGLL1 gene deficiency was found in 1 patient, but the other mutations were still undetermined. Conclusions The respiratory infections were the most common symptom in non BTK gene mutation agammaglobulinemia patients. Gene mutation analysis could help to diagnose agammaglobulinemia.
2015, Vol. 3 
