Susceptibility to respiratory infections associated with CD8alpha chain mutation
Synonyms: Familial CD8 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Susceptibility to respiratory infections associated with CD8alpha chain mutation | Familial CD8 deficiency |
| fr | Susceptibilité aux infections respiratoires associée à une mutation de la chaîne alpha de CD8 | Déficit familial en CD8 |
| de | Erhöhte Anfälligkeit für Atemwegsinfektionen durch CD8alpha-Defizienz | CD8-Mangel, familiärer |
| es | Susceptibilidad a infecciones respiratorias asociada con una mutación en la cadena alpha de CD8 | Deficiencia de CD8 familiar · Deficiencia familiar de CD8 |
| it | Suscettibilità alle infezioni respiratorie associata alla mutazione della catena di CD8alfa | Deficit familiare di CD8 |
| nl | Vatbaarheid voor luchtweginfecties geassocieerd met mutatie in CD8-alfaketen | Familiale CD8-deficiëntie |
| pt | Suscetibilidade a infeções respiratórias associada com mutação na cadeia CD8alfa | |
| pl | Wrażliwość na infekcje układu oddechowego związana z mutacją łańcuchów CD8alfa | Rodzinny Niedobór CD8 |
| cs | Náchylnost k respiračním infekcím spojená s mutacemi CD8 alfa řetězce | Familiární deficit CD8 |
| uk | Сприйнятливість до респіраторних інфекцій, повязана з мутацією ланцюга CD8-альфа | Сімейний дефіцит CD8 |
| zh | CD8alpha链突变相关呼吸道感染易感性 | 家族性CD8缺陷 |
| tr | CD8alfa zincir mutasyonu ilişkili solunum yolu enfeksiyonlarına duyarlılık | Ailesel CD8 eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608957 | E | validated | |
| ICD-10 | D84.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0012161 | E | validated | |
| MeSH | C563824 | E | validated | |
| UMLS | C1837065 | 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:718072Combined immunodeficiency with low CD8 and normal CD4
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 |
|---|---|---|---|---|---|---|---|---|
| CD8A | Disease-causing germline mutation(s) in | Assessed | HGNC:1706 | ENSG00000153563 | 186910 | 2p11.2 | CD8 subunit alpha | 11435463[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | 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/169085
- This record as JSON: /data/d/169085.json