Name: Somatic ALPS type IA | Acronym: sALPS
Alt. names: sALPSIA | ALPS–SFAS

Gene: FAS | MOI: Somatic | Mechanism of action: Loss of Function

No. of cases in DB: 0 | First reported in: 2004

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

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First reported in 2004 in two children with ALPS (PMID:15459302). 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 .