Table 1. Summary of clinical and immunological features of patients with the E1021K p110δ mutation.

Clinical / Immunological manifestation	Patients	Frequency, n / total studied (%)
Recurrent respiratory and ear infections (H. influenzae, S. pneumoniae)	P1-17	17/17 (100)
CT evidence of large (bronchiectasis) or small (mosaic attenuation) airway disease	P1-7,9,11-13,17	12/16 (75)
Splenomegaly (prior to the onset of recurrent infections)	P2,3,5,6,8,9,13-16	10/17 (59)
Skin, salivary gland, lacrimal gland or dental abscess formation, orbital cellulitis	P1,3,5-8,10	7/17 (41)
Infection caused by herpes group viruses (HSV, CMV, VZV, EBV)	P3,8,12,13 (and the deceased sister of P5/P6)	4/17 (24)
Marginal zone lymphoma	P13	1/17 (6)
Low/intermittent low serum IgG2 levels	P2-7,10-13	10/11 (91)
High/intermittent high serum IgM levels	P1-6,8-11,13-16	14/17 (82)
Low levels of anti-pneumococcal antibodies	P1-4,7,9,11-13,17	10/10 (100)
Low levels of anti-Haemophilus Influenzae type B antibodies	P1-4,8,9,12,13	8/10 (80)
Decreased circulating T cells (total CD3+) and/or CD4+ and/or CD8+ T cells	P1-9,13,14,17	12/17 (71)
Decreased circulating B cells (total CD19+)	P2-9,13,14-16	12/17 (71)
Increased circulating transitional B cells (CD19+CD38+IgM+)	P1-4,7-14,16,17	14/16 (88)
Decreased circulating class switched memory B cells (CD19+CD27+IgD−)	P1-3,8,9,12,13,16	8/16 (50)