Table 1.

Clinical and molecular data from patients.

Patient	Age at diagnosis	IgG (mg/dl)	IgA (mg/dl)	IgM (mg/dl)	IgE (Ui/ml)	B cell (%)	Mutation in protein	Mutation in cDNA	Dom	Btk expression
Patient 1	6 years	50	53	16	255	0·1	R28C	C214T	PH	Positive
Patient 2	8 months	33	<6	4	<2	0·0	R288W	C994T	SH2	Positive
Patient 3	11 years	200	11	14	–	1·0	K374N	A1254C	SH2	Positive
Patient 4	5 years	18	<6	15	9	0·0	K430E	A1420G	TK	Positive
Patient 5	8 years	–	–	–	–	0·0	F540S	T1751C	TK	Positive
Patient 6	4 years	26	<6	<4	<2	0·0	R544G	A1762G	TK	Positive
Patient 7	18 months	<33	<6	<4	<2	0·0	R544S	A1764T	TK	Positive

IgG, IgA, IgM levels at diagnosis B, percentage of B cells in the total lymphocyte population. Btk, Bruton's tyrosine kinase; Dom, Btk domain affected by mutation; PH, pleckstrin homology; SH2, Src homology 2 and TK, tyrosine kinase.