X-linked combined immunodeficiency due to SASH3 deficiency
Synonyms: X-linked CID due to SASH3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare non-severe combined immunodeficiency characterized by recurrent sinopulmonary/pulmonary, skin/soft tissue infections, warts and sepsis. Additional clinical features may include meningitis, dental abscesses, septic arthritis, progressive multifocal leukoencephalopathy, episodic bradycardia, bronchiectasis, granulomatous nodules, hypothyroidism, hypophosphatemia, enteropathy, nodular regenerative hyperplasia/hepatomegaly, liver granulomas, granulomatous skin lesions and aphthous ulcers. Infections could be bacterial, viral or fungal. Affected individuals present with refractory autoimmune cytopenias, hemolytic anemia, thrombocytopenia, lymphopenia, and decreased natural killer cells.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked combined immunodeficiency due to SASH3 deficiency | X-linked CID due to SASH3 deficiency |
| fr | Déficit immunitaire combiné lié à l'X par déficit en SASH3 | DIC lié à l'X par déficit en SASH3 |
| de | Immundefekt, kombinierter, X-chromosomaler, durch SASH3-Mangel | Kombinierter Immundefekt durch SASH3-Defizienz |
| es | Inmunodeficiencia combinada ligada al cromosoma X por deficiencia de SASH3 | IDC ligado al X por deficiencia de SASH3 |
| it | Immunodeficienza combinata legata allX da deficit di SASH3 | CID legata allX da deficit di SASH3 |
| nl | X-gebonden gecombineerde immuundeficiëntie door SASH3-deficiëntie | X-gebonden CID door SASH3-deficiëntie |
| pt | Imunodeficiência combinada ligada ao X por deficiência SASH3 | CID ligado ao X por deficiência SASH3 |
| pl | Złożony niedobór odporności sprzężony z chromosomem X spowodowany niedoborem SASH3 | = en |
| cs | X-vázaná kombinovaná imunodeficience způsobená deficitem SASH3 | = en |
| uk | Х-зчеплений комбінований імунодефіцит, зумовлений дефіцитом SASH3 | Х-зчеплений КІД через дефіцит SASH3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 301082 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| MONDO | 0024781 | E | validated | |
| MONDO | 24781 | E | validated | |
| UMLS | C5925116 | 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 (1):
- ORPHA:480549Non-severe combined immunodeficiency
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SASH3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15975 | ENSG00000122122 | 300441 | Xq26.1 | SAM and SH3 domain containing 3 | 33876203[PMID]_35464398[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 33876203[PMID]_35464398[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33876203[PMID]_35464398[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/653751
- This record as JSON: /data/d/653751.json