ORPHA:695183

Late-onset combined immunodeficiency due to ICOS deficiency

Synonyms: Late-onset CID due to ICOS deficiency · Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency

Orphadata ships no English definition for this code.

Names in Orphadata languages

9 of 12 languages

Lang	Name	Synonyms
en	Late-onset combined immunodeficiency due to ICOS deficiency	Late-onset CID due to ICOS deficiency · Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency
fr	Déficit immunitaire combiné à début tardif par déficit en ICOS	CID à début tardif par déficit en ICOS · DIC à début tardif par déficit en ICOS · Déficit immunitaire combiné à début tardif par déficit en protéine inducible T-cell costimulator
de	Spät auftretender kombinierter Immundefekt durch ICOS-Mangel	CID durch ICOS-Defizienz, spät-beginnend
es	Inmunodeficiencia combinada de inicio tardío por deficiencia de ICOS	IDC de inicio tardío por deficiencia de ICOS · Inmunodeficiencia combinada de inicio tardío por deficiencia de la proteína coestimuladora inducible de linfocitos T
it	Immunodeficienza combinata ad esordio tardivo da deficit di ICOS	CID ad esordio tardivo da deficit di ICOS · Immunodeficienza combinata ad esordio tardivo da deficit della proteina del costimolatore inducibile dei linfociti T
nl	Laat optredende gecombineerde immuundeficiëntie door ICOS-deficiëntie	Laat optredende CID door ICOS-deficiëntie · Laat optredende gecombineerde immuundeficiëntie door deficiëntie van induceerbaar T-cel costimulator-proteïne
pt	Late-onset combined immunodeficiency due to ICOS deficiency
pl	Late-onset combined immunodeficiency due to ICOS deficiency	= en
cs	Late-onset combined immunodeficiency due to ICOS deficiency	= en

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	607594	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.

Preferential parent (Orphanet linearisation):

Parents in the classifications (2):

ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
ICOS	Disease-causing germline mutation(s) in	Assessed	HGNC:5351	ENSG00000163600	604558	2q33.2	inducible T cell costimulator	12577056[PMID]

0 records

No prevalence record in this release.

Orphanet has no HPO annotation for this code in this release.