Bare Lymphocyte Syndrome, Type I (BLS1)

Bare Lymphocyte Syndrome, Type I(来自ICD-11)
别称:
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
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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
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参考文献
MALACARDS
AR
Unknown
<1/1000000
31
290
12

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