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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

裸淋巴细胞综合症，II型，也称为MHC II缺陷，与严重联合免疫缺陷，X连锁和对电离辐射敏感的严重联合免疫缺陷有关。与裸淋巴细胞综合症，II型有关的重要基因是RFXANK（调节因子X关联含ANK蛋白），其相关通路/超级通路包括细胞因子信号传导在免疫系统和NF-κB信号传导。在该疾病的背景下提到了γ-球蛋白和免疫球蛋白G。附属组织包括骨髓和T细胞，相关表型为MHC II表面表达减少和反复呼吸道感染。

Related ID：

MALACARDS：BRL012

OMIM：209920

MESH：D016511

ICD11：2021339495