MHC Class I Deficiency

Preferred Label : MHC Class I Deficiency;

NCIt definition : An extremely rare primary immunodeficency associated with autosomal recessive mutations in the TAP1 gene, encoding antigen peptide transporter 1, or TAP2 gene, encoding antigen peptide transporter 2, leading to disruption of antigen processing.;

Details

Origin ID

C215361;

Currated CISMeF NLP mapping
- Immunodeficiency by defective expression of MHC class I [ORDO Disease]
- MHC class I deficiency [DO Concept]
- Mhc class I deficiency [OMIM phenotypic series]
disease_has_primary_anatomic_site
- Immune System [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]

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