Name: Immunodeficiency 58 | Acronym: IMD58
Alt. names: RLTPR deficiency

Gene: CARMIL2 | MOI: Autosomal recessive | Mechanism of action: Loss of Function

No. of cases in DB: 1 | First reported in: 2016

Last updated on: 2023-02-28 by

OMIM: 618131

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Immunodeficiency-58 is an autosomal recessive primary immunologic disorder characterized by early-onset skin lesions, including eczematous dermatitis, infectious abscesses, and warts, recurrent respiratory infections or allergies, and chronic persistent infections with candida, Molluscum contagiosum, mycobacteria, EBV, bacteria, and viruses. Some patients may have gastrointestinal involvement, including inflammatory bowel disease, EBV+ smooth muscle tumors, and esophagitis. Immunologic analysis shows defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells. B-cell function may also be impaired (summary by Wang et al., 2016 and Alazami et al., 2018).

Management

Prophylactic measures, as well as early and aggressive treatment of infections may be beneficial. Individuals may be at increased risk of certain types of neoplasms, and awareness may allow prompt diagnosis and management.