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MHC class I deficiency

Synonyms
BARE LYMPHOCYTE SYNDROME, TYPE I; BLS, TYPE I; Bare lymphocyte syndrome type 1; HLA CLASS I DEFICIENCY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Bare lymphocyte syndrome type I (BLS I) is an inherited disorder of the immune system (primary immunodeficiency). Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria or viruses. Starting in childhood, most people with BLS I develop recurrent bacterial infections in the lungs and airways (respiratory tract). These recurrent infections can lead to a condition called bronchiectasis, which damages the passages leading from the windpipe to the lungs (bronchi) and can cause breathing problems.\n\nMany people with BLS I also have open sores (ulcers) on their skin, usually on the face, arms, and legs. These ulcers typically develop in adolescence or young adulthood. Some people with BLS I have no symptoms of the condition.\n\nPeople with BLS I have a shortage of specialized immune proteins called major histocompatibility complex (MHC) class I proteins on cells, including infection-fighting white blood cells (lymphocytes), which is where the condition got its name. [from MedlinePlus Genetics]

Available tests

27 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (27 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABC17, ABCB2, APT1, D6S114E, PSF-1, PSF1, RING4, TAP1*0102N, TAP1N, TAP1
    Summary: transporter 1, ATP binding cassette subfamily B member

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

  • Also known as: NGS17, TAPA, TPN, TPSN, TAPBP
    Summary: TAP binding protein

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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