ORPHA:695191
Late-onset combined immunodeficiency due to ICOSL deficiency
Synonyms: Late-onset CID due to ICOSL deficiency · Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Late-onset combined immunodeficiency due to ICOSL deficiency | Late-onset CID due to ICOSL deficiency · Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency |
| fr | Déficit immunitaire combiné à début tardif par déficit en ICOSL | CID à début tardif par déficit en ICOSL · DIC à début tardif par déficit en ICOSL · Déficit immunitaire combiné à début tardif par déficit en protéine inducible T cell costimulator ligand |
| de | Spät auftretender kombinierter Immundefekt durch ICOSL-Mangel | CID durch ICOSL-Defizienz, spät-beginnend · ICOSL-Defekt |
| es | Inmunodeficiencia combinada de inicio tardío por deficiencia de ICOSL | IDC de inicio tardío por deficiencia de ICOSL · Inmunodeficiencia combinada de inicio tardío por deficiencia del ligando de la proteína coestimuladora inducible de linfocitos T |
| it | Immunodeficienza combinata ad esordio tardivo da deficit di ICOSL | CID ad esordio tardivo da deficit di ICOSL · Immunodeficienza combinata ad esordio tardivo da deficit della proteina del ligando del costimolatore inducibile dei linfociti T |
| nl | Laat optredende gecombineerde immuundeficiëntie door ICOSL-deficiëntie | Laat optredende CID door ICOSL-deficiëntie · Laat optredende gecombineerde immuundeficiëntie door deficiëntie van induceerbaar T-cel costimulator-ligandproteïne |
| pt | Late-onset combined immunodeficiency due to ICOSL deficiency | |
| pl | Late-onset combined immunodeficiency due to ICOSL deficiency | = en |
| cs | Late-onset combined immunodeficiency due to ICOSL deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620825 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ICOSLG | Disease-causing germline mutation(s) in | Assessed | HGNC:17087 | ENSG00000160223 | 605717 | 21q22.3 | inducible T cell costimulator ligand | 30498080[PMID] |
5
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | 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.
6
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/695191
- This record as JSON: /data/d/695191.json