SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)

MedGen UID:: 69211
•Concept ID:: C0242583
•: Disease or Syndrome

Synonyms:	Bare Lymphocyte Syndrome; Bare Lymphocyte Syndromes; Lymphocyte Syndrome, Bare; Lymphocyte Syndromes, Bare; Syndrome, Bare Lymphocyte; Syndromes, Bare Lymphocyte
SNOMED CT:	Bare lymphocyte syndrome (71904008); Severe combined immunodeficiency due to absent class II human leukocyte antigens (71904008); SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens) (71904008); BLS - bare lymphocyte syndrome (71904008)

Definition

A hereditary immunodeficiency disorder caused by the lack of expression of major histocompatibility complex (MHC) proteins. Signs include upper and lower respiratory tract bacterial infections, malabsorption, diarrhea, and mucocutaneous candidiasis. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Combined immunodeficiency
        Severe combined immunodeficiency disease
        SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)
        MHC class I deficiency
        Hypoproteinemia, hypercatabolic
        MHC class I deficiency 1
        MHC class I deficiency 2
        MHC class I deficiency 3
        MHC class II deficiency
        MHC class II deficiency 1
        MHC class II deficiency 2
        MHC class II deficiency 3
        MHC class II deficiency 4
        MHC class II deficiency 5

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SCID (severe combined immunodeficiency) due to absent class II HLA (human leukocyte antigens)

Definition

Term Hierarchy

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