Bare Lymphocyte Syndrome, Type I (BLS1)

Alias:

Mhc Class I Deficiency

Hla Class I Deficiency

Bare Lymphocyte Syndrome Type 1

Immunodeficiency by Defective Expression of Mhc Class I

Bare Lymphocyte Syndrome Type I

Bls, Type I

Bare Lymphocyte Syndrome, Type I, Due to Tap2 Deficiency

Bare Lymphocyte Syndrome 1

Mhc Class 1 Deficiency

Bls Type I

Bls I

Blsi

Bls1

Bl-1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Bare Lymphocyte Syndrome, Type I, also known as mhc class i deficiency, is related to bare lymphocyte syndrome, type ii and immune deficiency disease. An important gene associated with Bare Lymphocyte Syndrome, Type I is TAP1 (Transporter 1, ATP Binding Cassette Subfamily B Member), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. Affiliated tissues include skin and lung, and related phenotypes are chronic otitis media and skin ulcer

Related ID：

MALACARDS：BRL011

OMIM：604571

MESH：D007153