Name: MHC class II deficiency 2 | Acronym: MHC2D2
Alt. names:

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

No. of cases in DB: 0 | First reported in: 1998

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

OMIM: 620815

Orphanet: -

MONDO: -

DOID: -

ClinGen:

It is characterized by the onset of recurrent infections (bacterial, viral, fungal, parasitic) in early infancy. Features include failure to thrive, chronic diarrhea, and pulmonary infections. Autoimmune features and allergies may be present in some patients. Laboratory studies show decreased numbers of CD4+ T cells with increased CD8+ T cells, impaired T-cell responses, hypogammaglobulinemia, inverted CD4:CD8 ratio, and decreased or absent expression of type II MHC antigens (e.g., HLA-DR, -DQ, and -DP) on the cell surface. Death in early childhood commonly occurs unless bone marrow transplantation is performed; however, the success rate is limited and there are usually complications. Rare patients have a less severe phenotype and live longer. MHC class II deficiency may not be detected by newborn T-cell receptor excision circle (TREC) screening. MHC2D2 has a high frequency among individuals of North African origin (summary by Klein et al., 1993; Wiszniewski et al., 2000; El Hawary et al., 2019; Unsal et al., 2024).[source:OMIM]

Description of management option has not been reviewed yet.