Name: Bare lymphocyte syndrome type 2C | Acronym: BLS2C
Alt. names: MHC class II deficiency 3 | MHC2D3

Gene: RFX5 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 1995

Last updated on: 2023-02-28 16:41:18 by

OMIM: 620816

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is characterized by the onset of recurrent and persistent infections from birth. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and -DP) on the surface of antigen-presenting cells. Most patients die in infancy or early childhood unless they undergo bone marrow transplantation, which can be curative, although complications are common. Rare patients may survive longer, even without bone marrow transplant. MHC class II deficiency may not be detected by newborn T-cell receptor excision circle (TREC) screening (summary by El Hawary et al., 2019; Mousavi Khorshidi et al., 2023).[source:OMIM]

Description of management option has not been reviewed yet.