Autoimmune lymphoproliferative syndrome

Last revised by David Luong on 12 Jul 2021

Citation, DOI, disclosures and article data

Citation:

Weerakkody Y, Luong D, Bickle I, Autoimmune lymphoproliferative syndrome. Reference article, Radiopaedia.org (Accessed on 18 Apr 2024) https://doi.org/10.53347/rID-72031

DOI:

https://doi.org/10.53347/rID-72031

Permalink:

https://radiopaedia.org/articles/72031

rID:

72031

Article created:

5 Nov 2019, Yuranga Weerakkody ◉

Disclosures:

At the time the article was created Yuranga Weerakkody had no recorded disclosures.

View Yuranga Weerakkody's current disclosures

Last revised:

12 Jul 2021, David Luong ◉

Disclosures:

At the time the article was last revised David Luong had no recorded disclosures.

View David Luong's current disclosures

Revisions:

3 times, by 3 contributors - see full revision history and disclosures

Systems:

Paediatrics, Haematology, Oncology

Synonyms:

Autoimmune lymphoproliferative syndrome (ALPS)

Autoimmune lymphoproliferative syndrome (ALPS) is a rare lymphoproliferative condition.

Clinical presentation

It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child.

Pathology

It represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis and is a rare inherited disorder most commonly occurring due to mutations in the FAS (TNFRSF6) gene. Other mutations of the genes such as Fas-ligand (FASLG), Caspase 10 (CASP10) and Caspase 8 (CASP8), NRAS and KRAS have also been observed in small numbers of patients and approximately 20-30% of patients may have an unidentified defect⁶.