ORPHA:647804
Combined immunodeficiency due to FCHO1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Status
- active
A rare combined T and B cell immunodeficiency characterized by early-onset of recurrent severe bacterial, viral, and fungal infections. Many patients present failure to thrive. Occurrence of lymphoma, as well as neurologic features, have been reported in some cases. Laboratory examination shows decreased CD4+ T cells and variable B cell lymphopenia and hypogammaglobulinemia.
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Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to FCHO1 deficiency | |
| fr | Déficit immunitaire combiné par déficit en FCHO1 | |
| de | Kombinierter Immundefekt durch FCHO1-Defizienz | |
| es | Inmunodeficiencia combinada por deficiencia de FCHO1 | |
| it | Immunodeficienza combinata da deficit di FCHO1 | |
| nl | Gecombineerde immuundeficiëntie door FCHO1-deficiëntie | |
| pt | Imunodeficiência combinada por deficiência FCHO1 | |
| pl | Złożony niedobór odporności spowodowany niedoborem FCHO1 | |
| cs | Kombinovaná imunodeficience způsobená deficitem FCHO1 | |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом FCHO1 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619164 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| MONDO | 0030898 | E | validated | |
| UMLS | C5816748 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:718079Combined immunodeficiency with normal B cells and normal immunoglubulins
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FCHO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29002 | ENSG00000130475 | 613437 | 19p13.11 | FCH and mu domain containing endocytic adaptor 1 | 32098969[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/647804
- This record as JSON: /data/d/647804.json