Table 1 Clinical phenotype of patients with SOCS1 mutations.
From: Early-onset autoimmunity associated with SOCS1 haploinsufficiency
Patient | Gender | Genotype | Age at onset (years) | Autoimmune manifestations | Lymphoproliferation | Infections | Therapy |
|---|---|---|---|---|---|---|---|
Family A | |||||||
A1 | F | WT/P123R | 2 | Severe ITP | No | No | Corticosteroids, IVIg, TPOr agonist, MMF |
A2 | F | WT/P123R | 6 | ITP Thyroiditis Polyarthritis | No | No | Corticosteroids Hormonal substitution |
Family B | |||||||
B1 | F | WT/A9Pfs*76 | 5 | Evans syndrome | Adenopathy Splenomegaly | Bronchopulmonary | Corticosteroids, IVIg, Rapamycine |
B2 | M | WT/A9Pfs*76 | 3 | Coeliac disease Psoriasis | Hodgkin lymphoma | No | Topical treatment |
Familiy C | |||||||
C1 | F | WT/M161Afs*46 | 3 | Evans syndrome | Adenopathy Hepatomegaly Splenomegaly | No | Corticosteroids, MMF |
Family D | |||||||
D1 | M | WT/R22W | 16 | Systemic lupus: glomerulonephritis | No | No | Corticosteroids, Hydroxychloroquine, MMF |
Family E | |||||||
E1 | F | WT/Y154H | 9 | Systemic lupus: polyarthritis, glomerulonephritis | No | No | Corticosteroids, Hydroxychloroquine, Methotrexate, Cyclophosphamide, MMF, Baricitinib |
E2 | F | WT/Y154H | 16 | ITP | No | No | Corticosteroids, IVIg, Hydroxychloroquine, Azathioprin, Rituximab, Splenectomy |
E4 | M | WT/Y154H | 15 | Psoriasis | No | No | Topical treatment |
E5 | F | WT/Y154H | 44 | Psoriasis, Spondyloarthritis, Autoimmune hepatitis and pancreatitis | No | No | Corticosteroids, Hydroxychloroquine, Methotrexate, Anti-TNFα therapy |
