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GTR Home > Conditions/Phenotypes > MHC class I deficiency 2

MHC class I deficiency 2

Summary

MHC class I deficiency-2 (MHC1D2) is an autosomal recessive immunologic disorder characterized by the onset of chronic bacterial sinobronchial infections in the first or second decades of life. Nasal polyps are common, and chronic necrotizing granulomatous lesions affecting the nasal cavity, upper respiratory tract, or skin, which can be severe, may develop later. The disorder is progressive and patients may develop bronchiectasis and respiratory failure. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens on the cell surface (summary by de La Salle et al., 1994; Moins-Teisserenc et al., 1999). For a discussion of genetic heterogeneity of MHC class I deficiency, see MHC1D1 (604571). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: ABC18, ABCB3, APT2, D6S217E, MHC1D2, PSF-2, PSF2, RING11, TAP2
    Summary: transporter 2, ATP binding cassette subfamily B member

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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