MHC class II deficiency

Rare Disease

MONDO:0008855

Also Known As

HLA class 2-negative SCIDHLA class 2-negative severe combined immunodeficiencyMHC class II expression deficiencySCID due to absent class II HLA antigensimmunodeficiency by defective expression of HLA class type 2major histocompatibility complex class II expression deficiencyBARE lymphocyte syndromeBARE lymphocyte syndrome, type IIBARE lymphocyte syndrome, type II, complementation group B, includedBARE lymphocyte syndrome, type II, complementation group C, includedBARE lymphocyte syndrome, type II, complementation group D, includedBARE lymphocyte syndrome, type II, complementation group E, includedBLSBLS 2BLS type IIBLS, type IIBLSIIBare lymphocyte syndromeBare lymphocyte syndrome 2Bare lymphocyte syndrome type 2Bare lymphocyte syndrome, type 2Bare lymphocyte syndrome, type IIBare lymphocyte syndrome, type II, complementation group ABare lymphocyte syndrome, type II, complementation group BBare lymphocyte syndrome, type II, complementation group CBare lymphocyte syndrome, type II, complementation group DBare lymphocyte syndrome, type II, complementation group EBls, type 2SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, includedSCID, HLA Class 2-negativeSCID, HLA Class II-negativebare lymphocyte syndrome type IIimmunodeficiency by defective expression of HLA class 2severe combined immunodeficiency, HLA Class II-negativesevere combined immunodeficiency, HLA class ii-negative

Definition

Immunodeficiency by defective expression of HLA class 2 is a rare primary genetic immunodeficiency disorder characterized by partial or complete absence of human leukocyte antigen class 2 expression resulting in severe defect in both cellular and humoral immune response to antigens. The disorder presents clinically as marked susceptibility to infections, severe malabsorption and failure to thrive and is often fatal in early childhood.