Table 1.

Clinical and immunological features of affected patients reported in this study.

Patients	IgG (mg/dL)	IgA (mg/dL)	IgM (mg/dL)	B-cell immunephenotype (CD19+IgD-CD27+ switched memory)	T-cell immunephenotype	Response to vaccines	Clinical manifestations	Treatment
1.1	IgG=477	0,63	43,7	0,71 (9.2 - 18.9)	normal	Poor	Respiratory infections, Bronchiectasis, Gastrointestinal infections, Severe colitis, DM, hidradenitis suppurativa	Ig replacement therapy
1.2	IgG1 = 309 IgG2 = 3,8 IgG3 = 8,9 IgG4<0,4	<2,08	92,11	1,47 (9.2 - 18.9)	normal	N/A	Recurrent pneumonia	Ig replacement therapy
2.1	low*	low*	low*	N/A	N/A	Poor	Croh’s disease, Secondary spondylarthritis	Ig replacement therapy; immunosupression; Ileal resection
3.1	IgG1 = 96,3 IgG2 = 10,9 IgG3 = 0,68 IgG4 = 0,32	<6,2	<6,4	0,88 (7.2 - 12.7)	normal	N/A	Recurrent pneumonia, Bronchiectasis, Otitis media infections	Ig replacement therapy
3.2	IgG1 = 359 IgG2 = 293 IgG3 = 39,4 IgG4 = 0,7	197,44	46,48	7.18 (9.2 - 18.9)	N/A	N/A	Asymptomatic	no
4.1	IgG1 = 163 IgG2 = 2 IgG3 = 34 IgG4 = 6	<0.7	10	N/A	N/A	Poor	Bronchiectasis,hypotonia, hyperlaxity, pectus carinatum	Ig replacement therapy
5.1	IgG1 = 584 IgG2 = 245,7 IgG3 = 86 IgG4 = 33,6	N/A	N/A	12,61 (6-16)	Increased CD8+ CD45RA+ CCR7-	Poor	Recurrent laryngitis, bronchitis and one bronchopneumonia, chickenpox meningitis; increase pDC

Clinical and immunological data from affected patients with novel mutations in IRF2BP2. The level of Immunooglobulins and B-cell/T-cell subpopulations were indicated at the moment of diagnosis. N/A, non-available information. All patients with the exception of 3.2 and 5.1 received Ig replacement therapy. * The immunological data from patient 2 were obtained from old clinical history. The current values were disturbed due to immunosuppressed treatment since adolescence.