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.