Table 1.

Characteristics of the patients included in the study

ID	Sex	Age, y	Mutations	Phenotype	IS therapy*	G-CSF
1	F	23	p.Leu188Pro/IVS6_IVS7del*	2 strokes (2-3 y), hypogammaglobulinemia (3 y), recurrent infections (since 13 y), livedo reticularis (13 y), neutropenia (14 y), TLGL (21 y)	Etanercept, PD	Yes
2	F	23	p.Leu188Pro/IVS6_IVS7del*	2 strokes (8-14 y), neutropenia (8 y), hypogammaglobulinemia (8 y), livedo reticularis (10 y), hypothyroidism (22 y)	Etanercept	Yes
3	F	31	p.Tyr456Cys/p.Tyr456Cys	Hodgkin lymphoma (28 y), severe prolonged neutropenia after chemotherapy (30 y)	MPD	No
4	F	18	p.Gly47Arg/p.Gly47Arg	Livedo reticularis (early infancy), recurrent giardiasis (3-4 y), PAN (5 y), hemorrhagic stroke (10 y), intracranial aneurysm rupture (17 y), hypertension, systemic inflammation	Etanercept	No
5	F	63	p.Arg49Glyfs*/p.Trp362Ter	Oral candidiasis (1 mo), RRI (infancy), hypogammaglobulinemia (14 y), neutropenia (20 y), recurrent pneumonias (45-50 y), TLGL (61 y)	Etanercept, rituximab	Yes
6	F	24	p.Gly47Val/p.Ser479Pro	Livedo (7 y), neurological symptoms (8 y), PAN and hypertension (9 y), pericarditis (10 y), peripheral neuropathy (12 y), hypo-IgM (24 y), systemic inflammation	Etanercept	No
7	M	25	p.Gly47Val/p.Ser479Pro	Neurological symptoms (2 y), hypertension (10 y), PAN (11 y), stroke (11 y), hypogammaglobulinemia (25 y), systemic inflammation	Etanercept	No

F, female; G-CSF, granulocyte colony-stimulating factor; IgM, immunoglobulin M; IS, immunosuppressive; M, male; MPD, methylprednisolone; PAN, polyarteritis nodosa; PD, prednisone; RRI, recurrent respiratory infections; TLGL, T large granular lymphocytes.

^*Ongoing treatment at the time of blood collection.