Immunodeficiency 110 with lymphoproliferation

Preferred Label : Immunodeficiency 110 with lymphoproliferation;

Symbol : IMD110;

CISMeF acronym : TIIAC;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mst1 deficiency; Stk4 deficiency; T-cell immunodeficiency, recurrent infections, and autoimmunity with or without cardiac malformations; TIIAC;

Description : STK4 deficiency results in a primary T-cell immunodeficiency syndrome characterized by progressive loss of naive T cells, recurrent bacterial, viral, and fungal infections, warts, and abscesses, autoimmune manifestations, and cardiac malformations, including atrial septal defect (Abdollahpour et al., 2012; Nehme et al., 2012).;

Prefixed ID : #614868;

Details

Origin ID

614868;

UMLS CUI

C3553943;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to STK4 deficiency [ORDO Disease]
Genes related to phenotype
- Serine/threonine protein kinase 4 [OMIM gene]
HPO term(s)
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Immunodeficiency [HPO term]
- Lymphopenia [HPO term]
- Neutropenia [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent fungal infections [HPO term]
- Recurrent viral infections [HPO term]
- Verrucae [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to STK4 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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