Bare Lymphocyte Syndrome, Type Ii (BLS2)

Alias:
Mhc Class Ii Deficiency
Major Histocompatibility Complex Class Ii Deficiency
Bare Lymphocyte Syndrome Type 2
Bare Lymphocyte Syndrome
Bare Lymphocyte Syndrome, Type Ii, Complementation Group C
Bare Lymphocyte Syndrome, Type Ii, Complementation Group D
Bare Lymphocyte Syndrome, Type Ii, Complementation Group B
Bare Lymphocyte Syndrome Type Ii
Bare Lymphocyte Syndrome 2
Bare Lymphocyte Syndrome, Type Ii, Complementation Group a
Immunodeficiency by Defective Expression of Mhc Class Ii
Bare Lymphocyte Syndrome Type 2, Complementation Group a
Bare Lymphocyte Syndrome Type 2, Complementation Group E
Severe Combined Immunodeficiency, Hla Class Ii-Negative
Scid Due to Absent Class Ii Hla Antigens
Severe Combined Immunodeficiency
Scid, Hla Class Ii-Negative
Bls Type Ii
Severe Combined Immunodeficiency Due to Absent Class Ii Human Leukocyte Antigens
Bare Lymphocyte Syndrome, Type Ii, Complementation Group E
Bare Lymphocyte Syndrome Type Ii Complementation Group a
Bare Lymphocyte Syndrome Type Ii Complementation Group B
Bare Lymphocyte Syndrome Type Ii Complementation Group C
Bare Lymphocyte Syndrome Type Ii Complementation Group D
Bare Lymphocyte Syndrome Type Ii Complementation Group E
Immunodeficiency by Defective Expression of Hla Class 2
Severe Combined Immunodeficiency Hla Class Ii-Negative
Hla Class 2-Negative Severe Combined Immunodeficiency
Hla Class Ii Deficient Combined Immunodeficiency
Scid Due to Absence of Class Ii Hla Antigens
Hereditary Mhc Class Ii Deficiency
Scid, Hla Class 2-Negative
Scid Hla Class Ii-Negative
Hla Class 1 Deficiency
Mhc-Ii Deficiency
Bls, Type Ii
Bls Ii
Blsii
Bls2
Bl-2
Bls
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Bare Lymphocyte Syndrome, Type Ii, also known as mhc class ii deficiency, is related to severe combined immunodeficiency, x-linked and severe combined immunodeficiency with sensitivity to ionizing radiation. An important gene associated with Bare Lymphocyte Syndrome, Type Ii is RFXANK (Regulatory Factor X Associated Ankyrin Containing Protein), and among its related pathways/superpathways are Cytokine Signaling in Immune system and NF-kappaB Signaling. The drugs gamma-Globulins and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include bone marrow and t cells, and related phenotypes are reduced mhc ii surface expression and recurrent respiratory infections
Related ID:
MESH:D016511
ICD11:2021339495

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
39
407
56

Medical Symptom

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Description
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Gene & Mutation

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References Literature

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