Conditions / Immune
MHC class I deficiency
info · Immune
A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_
A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy.
Signs and symptoms
- Bronchiectasis
- Emphysema
- Nasal polyposis
- Recurrent bronchitis
- Ectopia lentis
- Chronic sinusitis
- Chronic otitis media
- Unusual bronchiolitis
- Skin ulcer
Also known as: BLS, TYPE I; BLSI; HLA CLASS I DEFICIENCY; bare lymphocyte syndrome type I