Name: Autoimmune lymphoproliferative syndrome, type IA | Acronym: ALPSIA
Alt. names:

Gene: FAS | 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: 601859

Orphanet: 3261

MONDO: -

DOID: -

ClinGen:

It is characterized by splenomegaly, adenopathies, autoimmune cytopenias, increased lymphoma risk, IgG and A normal or increased, elevated serum FasL, IL-10, and vitamin B12. Patients show increased TCR +CD4-CD8-double negative (DN) T cells, and normal number of B cells, but low memory B cells

Lymphoproliferation can be suppressed with medications such as corticosteroids, cyclosporine, tacrolimus, sirolimus, and mycophenolate mofetil; BMT/HSCT the only curative treatment for ALPS, has to date mostly been reported in patients with severe clinical findings; Surveillance for manifestations of lymphoproliferation and autoimmunity, and specialized imaging studies to detect malignant transformation may be beneficial .