Name: Immunodeficiency 78 | Acronym: IMD78
Alt. names: Tripeptidyl-Peptidase II Deficiency | Immunodeficiency 78 with autoimmunity and developmental delay

Gene: TPP2 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2014

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

OMIM: 619220

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Affected individuals present with features of immune deficiency, such as recurrent sinopulmonary or skin infections, as well as autoimmunity, including autoimmune cytopenias, hemolytic anemia, and thrombocytopenia. Autoimmune hepatitis or thyroid disease and central nervous system vasculitis with stroke may also occur. There is increased susceptibility to bacterial, viral, and fungal infections. Laboratory studies show lymphopenia with advanced differentiation and premature senescence of CD8+ T cells and B cells; some patients may have hypergammaglobulinemia. The findings indicate immune dysregulation. Patients also have global developmental delay with speech delay and variable intellectual disability. (summary by Lu et al., 2014 and Atallah et al., 2021).[OMIM]

Many patients die prematurely, but successful hematopoietic bone marrow transplant may be curative.