Autoimmune Lymphoproliferative Syndrome

Rare congenital lymphoid disorder due to mutations in certain Fas-Fas ligand pathway genes. Known causes include mutations in FAS, TNFSF6, NRAS, CASP8, and CASP10 proteins. Clinical features include LYMPHADENOPATHY; SPLENOMEGALY; and AUTOIMMUNITY.
Also Known As:
Autoimmune Lymphoproliferative Syndromes; Caspase 8 Deficiencies; Caspase-8 Deficiencies; Deficiencies, Caspase 8; Deficiencies, Caspase-8; Deficiency, Caspase 8; Deficiency, Caspase-8; Lymphoproliferative Syndrome, Autoimmune; Lymphoproliferative Syndromes, Autoimmune; Syndrome, Autoimmune Lymphoproliferative; Syndrome, Canale Smith; Syndromes, Autoimmune Lymphoproliferative; Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant; Autoimmune Lymphoproliferative Syndrome Type 2B; Autoimmune Lymphoproliferative Syndrome Type 2B (ALPS2B); Canale Smith Syndrome; Caspase 8 Deficiency; Caspase-8 Deficiency
Networked: 140 relevant articles (1 outcomes, 6 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Autoimmune Lymphoproliferative Syndrome
2. Systemic Lupus Erythematosus (Libman-Sacks Disease)
3. Lymphatic Diseases (Lymphadenopathy)
4. Splenomegaly
5. Lymphoma (Lymphomas)


1. Rao, V Koneti: 12 articles (05/2015 - 05/2005)
2. Puck, Jennifer M: 11 articles (03/2014 - 07/2002)
3. Dale, Janet K: 11 articles (04/2012 - 07/2002)
4. Straus, Stephen E: 10 articles (04/2009 - 07/2002)
5. Davis, Joie: 9 articles (03/2014 - 09/2002)
6. Fleisher, Thomas A: 8 articles (03/2014 - 07/2002)
7. Rieux-Laucat, Frédéric: 8 articles (04/2013 - 01/2005)
8. Price, Susan: 6 articles (05/2015 - 07/2009)
9. Lenardo, Michael J: 6 articles (03/2014 - 09/2002)
10. Dowdell, Kennichi C: 6 articles (04/2012 - 12/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autoimmune Lymphoproliferative Syndrome:
1. Sirolimus (Rapamycin)FDA Link
2. Caspase 10IBA
3. Caspase 8 (Caspase-8)IBA
4. 2,6-dinitrotoluene (DNT)IBA
5. type 1 Autoimmune polyendocrinopathy syndromeIBA
05/01/2008 - "Epidemiological data show that there are PIDs systematically associated with AID, such as immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), Omenn syndrome, autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), autoimmune lymphoproliferative syndrome (ALPS), and C1q deficiency, while strong associations are seen with a handful of other deficits. "
12/01/2005 - "Recent studies of autoimmune polyendocrinopathy syndrome type 1, autoimmune lymphoproliferative syndrome, immunodysregulation, polyendocrinopathy and enteropathy, X-linked, IL-2 receptor alpha-chain deficiency, and, in particular, their corresponding mouse models, have revealed the details of the molecular mechanisms of normal immune tolerance, and exposed how defects in these mechanisms result in human autoimmunity. "
05/01/2008 - "On the other hand and very interestingly, there are PIDs systematically associated with several autoimmune manifestations in which SLE has not been described, such as autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED), immunodysregulation polyendocrinopathy enteropathy X-linked (IPEX), and autoimmune lymphoproliferative syndrome (ALPS), suggesting that mechanisms considered as critical players for induction and maintenance of tolerance to autoantigens, such as (1) AIRE-mediated thymic negative selection of lymphocytes, (2) Foxp3+ regulatory T cell-mediated peripheral tolerance, and (3) deletion of auto-reactive lymphocytes by Fas-mediated apoptosis, could not be relevant in SLE physiopathology. "
6. tebufenozide (Mimic)IBA
7. sulfadoxine-pyrimethamine (Fansidar)FDA Link
8. Small Interfering RNA (siRNA)IBA
9. Proliferating Cell Nuclear Antigen (PCNA)IBA
10. Interleukin-2 Receptors (IL 2 Receptor)IBA

Therapies and Procedures

1. Ligation
2. Splenectomy
3. Stem Cell Transplantation
4. Bone Marrow Transplantation (Transplantation, Bone Marrow)
5. Hepatectomy