Autoimmune lymphoproliferative syndrome

Changed by Yuranga Weerakkody, 5 Nov 2019

Back to revision history

Updates to Article Attributes

Body was changed:

Show markup changes

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 children.

Pathology

It represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis and is a rare inherited disorder most commonly occurs 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 a small numbers of patients and approximately 20-30% of patients may have an unidentified defect⁶.

Complications

Although initial lymphadenopathy is non malignent, patients have an increased risk of developing

-<p><strong>Autoimmune lymphoproliferative syndrome (ALPS)</strong> is a rare lymphoproliferative condition.</p><h4>Clinical presentation</h4><p>It presents with chronic lymphadenopathy, <a title="Splenomegaly" href="/articles/splenomegaly">splenomegaly</a>, and symptomatic multilineage cytopenias in an otherwise healthy children.</p><h4>Pathology</h4><p>It represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis and is a rare inherited disorder most commonly occurs due to mutations in the <em>FAS</em> (<em>TNFRSF6</em>) 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 a small numbers of patients and approximately 20-30% of patients may have an unidentified defect<sup> 6</sup>.</p><h5>Complications</h5><p>Although initial lymphadenopathy is non malignent, patients have an increased risk of developing </p><ul>
~~-<li><a title="Lymphoma" href="/articles/lymphoma">lymphoma</a></li>~~
~~-<li><a title="autoimmune disease " href="/articles/autoimmune-disease">autoimmune disease </a></li>~~
+<p><strong>Autoimmune lymphoproliferative syndrome (ALPS)</strong> is a rare <a href="/articles/lymphoproliferative-condition">lymphoproliferative condition</a>.</p><h4>Clinical presentation</h4><p>It presents with chronic lymphadenopathy, <a href="/articles/splenomegaly">splenomegaly</a>, and symptomatic multilineage cytopenias in an otherwise healthy children.</p><h4>Pathology</h4><p>It represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis and is a rare inherited disorder most commonly occurs due to mutations in the <em>FAS</em> (<em>TNFRSF6</em>) 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 defect<sup> 6</sup>.</p><h5>Complications</h5><p>Although initial lymphadenopathy is non malignent, patients have an increased risk of developing</p><ul>
+<li><a href="/articles/lymphoma">lymphoma</a></li>
+<li><a href="/articles/autoimmune-disease">autoimmune disease </a></li>

References changed:

1. Rudman Spergel A, Walkovich K, Price S, Niemela JE, Wright D, Fleisher TA, Rao VK. Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis. (2013) Pediatrics. 132 (5): e1440-4. <a href="https://doi.org/10.1542/peds.2012-2748">doi:10.1542/peds.2012-2748</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/24101757">Pubmed</a> <span class="ref_v4"></span>
2. Shah S, Wu E, Rao VK, Tarrant TK. Autoimmune lymphoproliferative syndrome: an update and review of the literature. (2014) Current allergy and asthma reports. 14 (9): 462. <a href="https://doi.org/10.1007/s11882-014-0462-4">doi:10.1007/s11882-014-0462-4</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25086580">Pubmed</a> <span class="ref_v4"></span>
3. Nilo A. Avila, Andrew J. Dwyer, Janet K. Dale, Uri A. Lopatin, Michael C. Sneller, Elaine S. Jaffe, Jennifer M. Puck, Stephen E. Straus. Autoimmune Lymphoproliferative Syndrome: A Syndrome Associated with Inherited Genetic Defects That Impair Lymphocytic Apoptosis—CT and US Features1. (1999) Radiology. 212 (1): 257-63. <a href="https://doi.org/10.1148/radiology.212.1.r99jl40257">doi:10.1148/radiology.212.1.r99jl40257</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/10405750">Pubmed</a> <span class="ref_v4"></span>
4. Rao VK, Oliveira JB. How I treat autoimmune lymphoproliferative syndrome. (2011) Blood. 118 (22): 5741-51. <a href="https://doi.org/10.1182/blood-2011-07-325217">doi:10.1182/blood-2011-07-325217</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/21885601">Pubmed</a> <span class="ref_v4"></span>
5. Madkaikar M, Mhatre S, Gupta M, Ghosh K. Advances in autoimmune lymphoproliferative syndromes. (2011) European journal of haematology. 87 (1): 1-9. <a href="https://doi.org/10.1111/j.1600-0609.2011.01617.x">doi:10.1111/j.1600-0609.2011.01617.x</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/21447005">Pubmed</a> <span class="ref_v4"></span>
6. Li P, Huang P, Yang Y, Hao M, Peng H, Li F. Updated Understanding of Autoimmune Lymphoproliferative Syndrome (ALPS). (2016) Clinical reviews in allergy & immunology. 50 (1): 55-63. <a href="https://doi.org/10.1007/s12016-015-8466-y">doi:10.1007/s12016-015-8466-y</a> - <a href="https://www.ncbi.nlm.nih.gov/pubmed/25663566">Pubmed</a> <span class="ref_v4"></span>

Systems changed: