Autoimmune Lymphoproliferative Syndrome

Common Name(s)

Autoimmune Lymphoproliferative Syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). This results in the overproduction of lymphocytes, which build up and cause enlargement of the lymph nodes, liver and spleen. Affected individuals can have a variety of autoimmune disorders, most of which damage the blood cells; some of the autoimmune disorders associated with ALPS can also damage the kidneys, liver, eyes, nerves, or connective tissues. Other signs and symptoms may include skin rashes or panniculitis; arthritis; inflammation of blood vessels (vasculitis); mouth sores; premature ovarian failure; and the development of neurological damage. ALPS is caused by mutations in the FAS gene in about 75% of cases. It is usually inherited in an autosomal dominant manner, although some severe cases are inherited in an autosomal recessive manner. Management may include steroids or other medications, blood transfusions, and/or splenectomy depending on the severity of the disorder. ALPS is categorized into several types based mainly on the genetic cause.

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Autoimmune Lymphoproliferative Syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Autoimmune Lymphoproliferative Syndrome" returned 52 free, full-text research articles on human participants. First 3 results:

Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis.
 

Author(s): Amanda Rudman Spergel, Kelly Walkovich, Susan Price, Julie E Niemela, Dowain Wright, Thomas A Fleisher, V Koneti Rao

Journal: Pediatrics. 2013 Nov;132(5):e1440-4.

 

Autoimmune lymphoproliferative syndrome (ALPS) is a rare inherited disorder of apoptosis, most commonly due to mutations in the FAS (TNFRSF6) gene. It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child. Unfortunately, ...

Last Updated: 4 Nov 2013

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Variations of the UNC13D gene in patients with autoimmune lymphoproliferative syndrome.
 

Author(s): Maurizio Aricò, Elena Boggio, Valentina Cetica, Matteo Melensi, Elisabetta Orilieri, Nausicaa Clemente, Giuseppe Cappellano, Sara Buttini, Maria Felicia Soluri, Cristoforo Comi, Carlo Dufour, Daniela Pende, Irma Dianzani, Steven R Ellis, Sara Pagliano, Stefania Marcenaro, Ugo Ramenghi, Annalisa Chiocchetti, Umberto Dianzani

Journal:

 

Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function and is characterized by lymphadenopathy/splenomegaly and expansion of CD4/CD8 double-negative T cells. This latter expansion is absent in the ALPS variant named Dianzani Autoimmune/lymphoproliferative ...

Last Updated: 10 Jul 2013

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Forced miR-146a expression causes autoimmune lymphoproliferative syndrome in mice via downregulation of Fas in germinal center B cells.
 

Author(s): Qiuye Guo, Jinjun Zhang, Jingyi Li, Liyun Zou, Jinyu Zhang, Zunyi Xie, Xiaolan Fu, Shan Jiang, Gang Chen, Qingzhu Jia, Fei Li, Ying Wan, Yuzhang Wu

Journal: Blood. 2013 Jun;121(24):4875-83.

 

By inhibiting target gene expression, microRNAs (miRNAs) play major roles in various physiological and pathological processes. miR-146a, a miRNA induced upon lipopolysaccharide (LPS) stimulation and virus infection, is also highly expressed in patients with immune disorders such as ...

Last Updated: 14 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Autoimmune Lymphoproliferative Syndrome" returned 6 free, full-text review articles on human participants. First 3 results:

[Advances in autoimmune lymphoproliferative syndrome and its related disorders].
 

Author(s): Fei Li, Lu-gui Qiu

Journal: Zhonghua Xue Ye Xue Za Zhi. 2012 May;33(5):425-8.

 

Last Updated: 11 Jul 2012

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New advances in the diagnosis and treatment of autoimmune lymphoproliferative syndrome.
 

Author(s): David T Teachey

Journal: Curr. Opin. Pediatr.. 2012 Feb;24(1):1-8.

 

Autoimmune lymphoproliferative syndrome (ALPS) is a disorder of disrupted lymphocyte homeostasis, resulting from mutations in the Fas apoptotic pathway. Clinical manifestations include lymphadenopathy, splenomegaly, and autoimmune cytopenias. A number of new insights have improved ...

Last Updated: 16 Jan 2012

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How I treat autoimmune lymphoproliferative syndrome.
 

Author(s): V Koneti Rao, João Bosco Oliveira

Journal: Blood. 2011 Nov;118(22):5741-51.

 

Autoimmune lymphoproliferative syndrome (ALPS) represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis, permitting accumulation of lymphoid mass and persistence of autoreactive cells that often manifest in childhood with chronic nonmalignant lymphadenopathy, ...

Last Updated: 29 Nov 2011

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Autoimmune Lymphoproliferative Syndrome (ALPS)
 

Status: Recruiting

Condition Summary: Autoimmune Disease; Lymphatic Disease; Lymphoproliferative Disorder; Canale-Smith Syndrome

 

Last Updated: 14 Mar 2014

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Fluorodeoxyglucose Imaging Studies to Detect Lymphoma
 

Status: Recruiting

Condition Summary: Autoimmune Lymphoproliferative Syndrome; Lymphoma

 

Last Updated: 11 Nov 2014

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Immune Disorder HSCT Protocol
 

Status: Recruiting

Condition Summary: Immune Deficiency Disorders:; Severe Combined Immunodeficiency; Chronic Granulomatous Disease; X-linked Agammaglobulinemia; Wiskott-Aldrich Syndrome; Hyper-IgM; DiGeorge Syndrome; Chediak-Higashi Syndrome; Common Variable Immune Deficiency; Immune Dysregulatory Disorder:; Hemophagocytic Lymphohistiocytosis; IPEX; Autoimmune Lymphoproliferative Syndrome; X-linked Lymphoproliferative Syndrome

 

Last Updated: 9 Dec 2014

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