865
Views
4
CrossRef citations to date
0
Altmetric
Review

Presentation and diagnosis of autoimmune lymphoproliferative syndrome (ALPS)

ORCID Icon
Pages 1163-1173 | Received 11 Jun 2021, Accepted 07 Sep 2021, Published online: 17 Sep 2021

References

  • Sneller MC, Straus SE, Jaffe ES, et al. A novel lymphoproliferative/autoimmune syndrome resembling murine lpr/gld disease. J Clin Invest. 1992;90(2):334–341.
  • Bleesing JJH, Straus SE, Fleisher TA. Autoimmune lymphoproliferative syndrome. Pediatric Clinics of North America. 2000;47(6):1291–1298.
  • Straus SE. An inherited disorder of lymphocyte apoptosis: the autoimmune lymphoproliferative syndrome. Ann Intern Med. 1999;130(7):591–601.
  • Oliveira JB, Bleesing JJ, Dianzani U, et al. Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. Blood. 2010;116(14):e35–40.
  • Price S, Shaw Pa, Seitz A, et al. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood. 2014;123(13):1989–1999.
  • Maccari ME, Fuchs S, Kury P, et al. A distinct CD38+CD45RA+ population of CD4+, CD8+, and double-negative T cells is controlled by FAS. J Exp Med. 2021;218(2). DOI:https://doi.org/10.1084/jem.20192191*
  • Crispin JC, Oukka M, Bayliss G, et al. Expanded double negative T cells in patients with systemic lupus erythematosus produce IL-17 and infiltrate the kidneys. J Immunol. 2008;181(12):8761–8766.
  • Shivakumar S, Tsokos GC, Datta SK. T cell receptor alpha/beta expressing double-negative (CD4-/CD8-) and CD4+ T helper cells in humans augment the production of pathogenic anti-DNA autoantibodies associated with lupus nephritis. J Immunol. 1989;143:103–112.
  • Alunno A, Carubbi F, Bistoni O, et al. CD4−CD8− T-cells in primary Sjögren’s syndrome: association with the extent of glandular involvement. J Autoimmun. 2014;51:38–43.
  • Alunno A, Bistoni O, Bartoloni E, et al. IL-17-producing CD4-CD8- T cells are expanded in the peripheral blood, infiltrate salivary glands and are resistant to corticosteroids in patients with primary Sjogren’s syndrome. Ann Rheum Dis. 2013;72:286–292.
  • Bride K, Teachey D. Autoimmune lymphoproliferative syndrome: more than a FAScinating disease. F1000Research. 2017;6:1928.
  • Molnar E, Radwan N, Kovacs G, et al. Key diagnostic markers for autoimmune lymphoproliferative syndrome with molecular genetic diagnosis. Blood. 2020;136(17):1933–1945.
  • Hafezi N, Zaki‐Dizaji M, Nirouei M, et al. Clinical, immunological, and genetic features in 780 patients with autoimmune lymphoproliferative syndrome (ALPS) and ALPS-like diseases: a systematic review. Pediatr Allergy Immunol. 2021. DOI:https://doi.org/10.1111/pai.13535.
  • Picard C, Bobby Gaspar H, Al-Herz W, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018;38(1):96–128.
  • Rieux-Laucat F, Le Deist F, Hivroz C, et al. Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity. Science. 1995;268(5215):1347–1349.
  • Magerus-Chatinet A, Neven B, Stolzenberg M-C, et al. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest. 2011;121(1):106–112.
  • Le Deist F, Emile J-F, Rieux-Laucat F, et al. Clinical, immunological, and pathological consequences of Fas-deficient conditions. Lancet. 1996;348(9029): 719–3.
  • Bettinardi A, Brugnoni D, Quiros-Roldan E, et al. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood. 1997;89(3):902–909.
  • Hansford JR, Pal M, Poplawski N, et al. In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation. Haematologica. 2013;98(4):e38–39.
  • Deutsch M, Tsopanou E, Dourakis SP. The autoimmune lymphoproliferative syndrome (Canale?Smith) in adulthood. Clin Rheumatol. 2004;23(1):43–44.
  • Tessarin G, Mazza C, Baronio M, et al. Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS). Clin Immunol. 2021;228:108757.
  • Volkl S, Rensing-Ehl A, Allgauer A, et al. Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome. Blood. 2016;128(2):227–238.
  • Lisco A, Wong C-S, Price S, et al. Corrigendum: paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS). Front Immunol. 2019;10:1552.
  • Lisco A, Wong C-S, Price S, et al. Paradoxical CD4 Lymphopenia in Autoimmune Lymphoproliferative Syndrome (ALPS). Front Immunol. 2019;10:1193.
  • Straus SE, Jaffe ES, Puck JM, et al. The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis. Blood. 2001;98(1):194–200.
  • Ruiz-Garcia R, Mora S, Lozano-Sanchez G, et al. Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation. Pediatr Res. 2015;78(6):603–608.
  • Casamayor-Polo L, Lopez-Nevado M, Paz-Artal E, et al. Immunologic evaluation and genetic defects of apoptosis in patients with autoimmune lymphoproliferative syndrome (ALPS). Crit Rev Clin Lab Sci. 2020;1-30. DOI:https://doi.org/10.1080/10408363.2020.1855623.
  • Rieux-Laucat F, Magerus-Chatinet A, Neven B. The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions. J Clin Immunol. 2018;38(5):558–568.
  • Lopez-Nevado M, Docampo-Cordeiro J, Ramos JT, et al. Next Generation Sequencing for Detecting Somatic FAS Mutations in Patients With Autoimmune Lymphoproliferative Syndrome. Front Immunol. 2021;12:656356.
  • Costagliola G, Consolini R. Lymphadenopathy at the crossroad between immunodeficiency and autoinflammation: an intriguing challenge. Clin Exp Immunol. 2021;205(3):288–305.
  • Teachey DT. Unmasking Evans syndrome: t-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS). Blood. 2005;105(6):2443–2448.
  • Seif AE, Manno CS, Sheen C, et al. Identifying autoimmune lymphoproliferative syndrome in children with Evans syndrome: a multi-institutional study. Blood. 2010;115(11):2142–2145.
  • Vignesh P, Rawat A, Singh S. An Update on the Use of Immunomodulators in Primary Immunodeficiencies. Clin Rev Allergy Immunol. 2017;52(2):287–303.
  • Matson DR, Yang DT. Autoimmune Lymphoproliferative Syndrome: an Overview. Arch Pathol Lab Med. 2020;144(2):245–251.
  • Rao VK, Price S, Perkins K, et al. Use of rituximab for refractory cytopenias associated with autoimmune lymphoproliferative syndrome (ALPS). Pediatr Blood Cancer. 2009;52(7):847–852.
  • Singer J, Testori C, Schellongowski P, et al. A case report of septic shock syndrome caused by S. pneumoniae in an immunocompromised patient despite of vaccination. BMC Infect Dis. 2017;17(1):442.
  • Teachey DT, Greiner R, Seif A, et al. Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome. Br J Haematol. 2009;145(1):101–106.
  • Rao VK, Dugan F, Dale JK, et al. Use of mycophenolate mofetil for chronic, refractory immune cytopenias in children with autoimmune lymphoproliferative syndrome. Br J Haematol. 2005;129(4):534–538.
  • Bajwa R, Savelli S, Gross T. Pentostatin for treatment of refractory autoimmune lymphoproliferative syndrome. Pediatr Blood Cancer. 2011;57(2):336–337.
  • Klemann C, Esquivel M, Magerus-Chatinet A, et al. Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome. Haematologica. 2017;102(2):e52–e56.
  • Bride KL, Vincent T, Smith-Whitley K, et al. Sirolimus is effective in relapsed/refractory autoimmune cytopenias: results of a prospective multi-institutional trial. Blood. 2016;127(1):17–28.
  • Ciullini Mannurita S, Goda R, Schiavo E, et al. Case Report: signal Transducer and Activator of Transcription 3 Gain-of-Function and Spectrin Deficiency: a Life-Threatening Case of Severe Hemolytic Anemia. Front Immunol. 2021;11:620046.
  • Boggio E, Arico M, Melensi M, et al. Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype. Pediatrics. 2013;132(4):e1052–1058.
  • Barzaghi F, Minniti F, Mauro M, et al. ALPS-Like Phenotype Caused by ADA2 Deficiency Rescued by Allogeneic Hematopoietic Stem Cell Transplantation. Front Immunol. 2019;9:2767.
  • Powell KR, Dagan R. Criteria for exclusion of serious bacterial infections in young infants. J Pediatr. 1992;121(5):831–834.
  • Dobert N, Menzel C, Berner U, et al. Positron Emission Tomography in Patients with Hodgkin’s Disease: correlation to Histopathologic Subtypes. Cancer Biother Radiopharm. 2003;18(4):565–571.
  • Carrasquillo JA, Chen CC, Price S, et al. 18F-FDG PET Imaging Features of Patients With Autoimmune Lymphoproliferative Syndrome. Clin Nucl Med. 2019;44(12):949–955.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.