Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
Synonyms: Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
A rare immunodeficiency syndrome with autoimmunity characterized by early-onset autoimmune and autoinflammatory manifestations due to SOCS1 haploinsufficiency. Patients present with variable phenotypes including hyper IgE-like syndrome with eczema and purulent infections, eosinophilic allergic alveolitis, common variable immunodeficiency-like phenotype with hypogammaglobulinemia, chronic autoimmune cytopenia, T-cell lymphopenia, granulomatous lymphocytic interstitial lung disease, systemic lupus erythematosus and malignancy.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency | Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency · SOCS1-related autoinflammatory syndrome |
| fr | Syndrome d'auto-immunité-auto-inflammation-immunodéficience à début précoce par haploinsuffisance en SOCS1 | Syndrome auto-inflammatoire associé à SOCS1 · Syndrome d'auto-immunité-auto-inflammation-immunodéficience à début précoce par haploinsuffisance en protéine suppressor of cytokine signaling 1 |
| de | Syndrom der früh einsetzenden Autoimmunität mit Autoinflammation und Immundefekt durch SOCS1-Haploinsuffizienz | SOCS1-assoziiertes autoinflammatorisches Syndrom |
| es | Síndrome de autoinmunidad-autoinflamación-inmunodeficiencia de inicio precoz por haploinsuficiencia de SOCS1 | Síndrome autoinflamatorio asociado a SOCS1 · Síndrome de autoinmunidad-autoinflamación-inmunodeficiencia de inicio precoz por la proteína 1 supresora de la señalización de citocinas |
| it | Sindrome autoimmunità a esordio precoce-autoinfiammazione-immunodeficienza da aploinsufficienza di SOCS1 | Sindrome autoimmunità a esordio precoce-autoinfiammazione-immunodeficienza da aploinsufficienza del soppressore del segnale delle citochine 1 · Sindrome autoinfiammatoria correlata a SOCS1 |
| nl | Vroeg optredende auto-immuniteit - auto-inflammatie - immuundeficiëntie-syndroom door SOCS1-haploinsufficiëntie | SOCS1-gerelateerd auto-inflammatoir syndroom · Vroeg optredende auto-immuniteit - auto-inflammatie - immuundeficiëntie-syndroom door suppressor van cytokine-signalering 1 |
| pt | Síndrome de autoimunidade-autoinflamação-imunodeficiência de início precoce por haploinsuficiência de SOCS1 | Síndrome autoinflamatória SOCS1-relacionada · Síndrome de autoimunidade-autoinflamação-imunodeficiência de início precoce devido ao supressor da citocina 1 de sinalização |
| pl | Autoimmunologiczny autozapalny zespół niedoboru odporności o wczesnym początku | Zespół autoimmunizacji, autozapalenia i niedoboru odporności o wczesnym początku spowodowany haploinsuficjencją SOCS1 |
| cs | Syndrom časné autoimunity, autoinflamace a imunodeficience | = en |
| uk | Ранній синдром аутоімунних захворювань-аутозапалення-імунодефіциту, зумовлений гаплонедостатністю SOCS1 | Ранній синдром аутоімунних захворювань-аутозапалення-імунодефіциту внаслідок гаплонедостатності супресора сигналізації цитокінів 1 · Аутозапальний синдром, повязаний з SOCS1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619375 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.21 | NTBT | attributed | validated |
| MONDO | 0850068 | E | validated | |
| UMLS | C5680416 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:324933Mixed autoinflammatory and autoimmune syndrome
rare genetic diseases; rare systemic and rheumatological diseases; rare systemic or rheumatologic diseases of childhood
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SOCS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19383 | ENSG00000185338 | 603597 | 16p13.13 | suppressor of cytokine signaling 1 | 32853638[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 34421895[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34421895[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/619948
- This record as JSON: /data/d/619948.json