Immunodeficiency 22

Preferred Label : Immunodeficiency 22;

Symbol : IMD22;

CISMeF acronym : IMD22;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the lymphocyte-specific protein-tyrosine kinase gene (LCK, 153390.0001);

Prefixed ID : #615758;

Détails

Origin ID

615758;

UMLS CUI

C4014233;

Currated CISMeF NLP mapping
- LCK-Associated Immunodeficiency [NCIt concept]
- Severe combined immunodeficiency due to LCK deficiency [ORDO Disease]
- Severe combined immunodeficiency due to LCK deficiency [ICD-11 More detail]
- Severe combined immunodeficiency due to lymphocyte-specific protein-tyrosine kinase deficiency (disorder) [SNOMED CT concept]
- immunodeficiency 22 [DO Concept]
DO Cross reference
- immunodeficiency 22 [DO Concept]
Genes related to phenotype
- Lck protooncogene, src family tyrosine kinase [OMIM gene]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Diarrhea [HPO term]
- Failure to thrive [HPO term]
- Immunodeficiency [HPO term]
- Infantile onset [HPO term]
- Panniculitis [HPO term]
- Recurrent respiratory infections [HPO term]
ORDO concept(s)
- Severe combined immunodeficiency due to LCK deficiency [ORDO Disease]
See also inter- (CISMeF)
- LCK wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- LCK-Associated Immunodeficiency [NCIt concept]
- immunodeficiency 22 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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