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MHC class II deficiency

^ http://purl.obolibrary.org/obo/MONDO_0008855

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. [ Orphanet:572 ]

Term info

database cross reference
  • MESH:C537079 (MONDO:equivalentTo)
  • GARD:0000824 (MONDO:equivalentTo)
  • NCIT:C176823 (MONDO:equivalentTo)
  • DOID:5812 (MONDO:equivalentTo)
  • UMLS:CN239286 (MONDO:equivalentTo)
  • SCTID:71904008 (MONDO:equivalentTo)
  • NCIT:C3895 (MONDO:equivalentTo)
  • OMIM:209920 (Orphanet:572/e)
  • Orphanet:572 (OMIM:209920)
  • MESH:D016511 (MONDO:relatedTo)
Subsets

gard_rare, ordo_disease

abbreviation
BLSII [ DOID:5812 ]

abbreviation
BLS [ MESH:C537079 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/4521

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.

exactMatch

http://purl.obolibrary.org/obo/DOID_5812, http://linkedlifedata.com/resource/umls/id/CN239286, https://omim.org/entry/209920, http://purl.obolibrary.org/obo/NCIT_C176823, http://identifiers.org/snomedct/71904008, http://purl.obolibrary.org/obo/NCIT_C3895, http://purl.obolibrary.org/obo/Orphanet_572, http://identifiers.org/mesh/C537079

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0015974

has exact synonym

HLA class 2-negative severe combined immunodeficiency, SCID due to absent class II HLA antigens, major histocompatibility complex class II expression deficiency, MHC class II deficiency, complementation group B, MHC class II expression deficiency, immunodeficiency by defective expression of HLA class type 2, HLA class 2-negative SCID

has related synonym

immunodeficiency by defective expression of HLA class 2, BARE lymphocyte syndrome, type II, complementation group D, included, BARE lymphocyte syndrome, type II, complementation group B, included, BARE lymphocyte syndrome, BLS, SCID, HLA Class II-negative, Bare lymphocyte syndrome, type 2, BLS type II, Bare lymphocyte syndrome type 2, bare lymphocyte syndrome type II, SCID, HLA Class 2-negative, severe combined immunodeficiency, HLA Class II-negative, BLS 2, BARE lymphocyte syndrome, type II, complementation group C, included, Bare lymphocyte syndrome, type II, complementation group A, BARE lymphocyte syndrome, type II, complementation group E, included, Bare lymphocyte syndrome, type II, complementation group B, BLSII, BARE lymphocyte syndrome, type II, Bare lymphocyte syndrome, SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included, Bls, type 2, Bare lymphocyte syndrome, type II, complementation group C, Bare lymphocyte syndrome, type II, Bare lymphocyte syndrome, type II, complementation group D, Bare lymphocyte syndrome, type II, complementation group E, BLS, type II, Bare lymphocyte syndrome 2, severe combined immunodeficiency, HLA class ii-negative

id

MONDO:0008855

seeAlso

https://rarediseases.info.nih.gov/diseases/824/bare-lymphocyte-syndrome-2

Term relations