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MHC class II deficiency

Synonyms
BARE LYMPHOCYTE SYNDROME, TYPE II; BLS 2; BLS, TYPE II; Bare Lymphocyte Syndrome; Bare lymphocyte syndrome 2; SCID, HLA CLASS II-NEGATIVE; SCID, HLA Class 2-Negative; Severe combined immunodeficiency, HLA class II negative
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood. [from ORDO]

Available tests

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C2TA, CIITAIV, MHC2TA, NLRA, CIITA
    Summary: class II major histocompatibility complex transactivator

  • Also known as: , RFX5
    Summary: regulatory factor X5

  • Also known as: ANKRA1, BLS, F14150_1, RFX-B, RFXANK
    Summary: regulatory factor X associated ankyrin containing protein

  • Also known as: , RFXAP
    Summary: regulatory factor X associated protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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