Name: Autoimmune lymphoproliferative syndrome, type IB | Acronym: ALPSIB
Alt. names:

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

No. of cases in DB: 0 | First reported in: 1996

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

OMIM: 601859

Orphanet: -

MONDO: -

DOID: -

ClinGen:

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. Biallelic variants have been described as resulting in more severe presentations, including as relates to autoimmunity and lymphoproliferation. Refs. PMIDs: 8787672; 15004557; 16627752; 17605793; 20301287

Description of management option has not been reviewed yet.