Name: Bare lymphocyte syndrome type 2D | Acronym: BLS2D
Alt. names: MHC class II deficiency 4 | MHC2D4

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

No. of cases in DB: 0 | First reported in: 1997

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

OMIM: 620817

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is characterized by the onset of recurrent, persistent infections from birth, resulting in failure to thrive. 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. Expression of MHC type I antigens may also be decreased (referred to as 'BLS type III'). Patients may die in infancy or early childhood, unless they undergo bone marrow transplantation, which can be curative, although complications are common. MHC2D4 may not be detected by newborn T-cell receptor excision circle (TREC) screening (summary by Mousavi Khorshidi et al., 2023).[source:OMIM]

Description of management option has not been reviewed yet.