Clinical and epidemiological data of the cohorts studied.

n.a. not applicable, CVID: Common Variable Immunodeficiency Disorders.aGenetic defects in the Btk gene were identified in 4 of the congenital agammaglobulinemia patients, namely IVS17-1G→C, R288Q, IVS8-2A→G, and Y375X mutations; in the other 2 patients, Btk mutations have been excluded and other genes are currently being evaluated.bDiagnostic criteria: Autoimmune disease - clinical data, given the impairment in Ab production; Adenopathies - lymph node larger than 1 cm diameter in 2 or more lymphatic chains in clinical and/or imaging exams; Lymphoid proliferation and Granulomas - diffuse lymphocytic infiltrates or granulomas on gastrointestinal, lymph node or pulmonary biopsies; Splenomegaly - longitudinal spleen diameter superior to 15 cm (computed tomography or ultrasonography).cPercentage within total cohort evaluated in brackets.d15/30 healthy subjects were included in detailed immunological studies (10 female; age 39±11 years).eTotal number of individuals with biopsies.n.a. 即不适用（not applicable）；CVID：普通变异型免疫缺陷病（Common Variable Immunodeficiency Disorders）。 a 本研究中，4例先天性无丙种球蛋白血症患者检出布鲁顿酪氨酸激酶（Btk）基因致病缺陷，具体突变类型为IVS17-1G→C、R288Q、IVS8-2A→G及Y375X；其余2例患者已排除Btk基因突变，目前正开展其他相关致病基因的筛查与评估。 b 诊断标准：①自身免疫性疾病：结合抗体产生障碍的临床资料；②淋巴结病：临床及/或影像学检查提示2个及以上淋巴链存在直径＞1cm的淋巴结肿大；③淋巴增殖与肉芽肿：胃肠道、淋巴结或肺部活检可见弥漫性淋巴细胞浸润或肉芽肿病变；④脾大：经计算机断层扫描或超声检查测得脾脏纵向直径＞15cm。 c 括号内数值为所评估队列总人群中的占比。 d 共纳入30名健康受试者中的15名开展详细免疫学研究（女性10名；年龄39±11岁）。 e 接受活检的个体总数量。