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 |
| 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.