Information on AISIMD
Basic details
Name: Autoinflammatory syndrome, familial, with or without immunodeficiency | Acronym: AISIMD
Alt. names: SOCS1 haploinsufficiency
Gene: SOCS1 | MOI: Autosomal dominant | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 17:25:00 by Andrés Caballero-Oteyza
Description
It is an incompletely penetrant condition characterized by early onset severe multisystemic autoimmunity, neutropenia, lymphopenia, ITP, AIHA, SLE, GN, hepatosplenomegaly, psoriasis, arthritis, thyroiditis, hepatitis and recurrent bacterial infections. Patients can have decreased number of T cells and reduced number of switched memory B cells. It is molecularly characterized by increased pSTAT1 and type I/II Interferon signature
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).
Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical term | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Decreased proportion of switched memory B cells |
7 (70.0%) | 0 (0.0%) | 3 (30.0%) |
| 2 | Decreased proportion of marginal zone B cells |
7 (70.0%) | 0 (0.0%) | 3 (30.0%) |
| 3 | Anti-ribonucleoprotein antibody positivity |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 4 | Antinuclear antibodies |
5 (55.6%) | 0 (0.0%) | 4 (44.4%) |
| 5 | Childhood onset |
4 (40.0%) | 0 (0.0%) | 6 (60.0%) |
| 6 | Anti-dsDNA antibody positivity |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 7 | Autoimmune thrombocytopenia |
3 (30.0%) | 0 (0.0%) | 7 (70.0%) |
| 8 | Coombs-positive hemolytic anemia |
3 (33.3%) | 0 (0.0%) | 6 (66.7%) |
| 9 | Juvenile onset |
3 (30.0%) | 0 (0.0%) | 7 (70.0%) |
| 10 | Glomerulonephritis |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 11 | Lymphadenopathy |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 12 | Splenomegaly |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 13 | Systemic lupus erythematosus |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 14 | Young adult onset |
2 (20.0%) | 0 (0.0%) | 8 (80.0%) |
| 15 | Celiac disease |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 16 | Hepatomegaly |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 17 | Hodgkin lymphoma |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 18 | Middle age onset |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 19 | Recurrent respiratory infections |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 20 | Spondylitis |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
| 21 | Thyroiditis |
1 (10.0%) | 0 (0.0%) | 9 (90.0%) |
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.