|
|
| Line 8: |
Line 8: |
| ==Classification== | | ==Classification== |
|
| |
|
| There is no established system for the staging of [[Autoimmune]] [[Lymphoproliferative]] [[Syndrome]].
| | |
| Old nomenclature<ref name="pmid12819469">{{cite journal| author=Sneller MC, Dale JK, Straus SE| title=Autoimmune lymphoproliferative syndrome. | journal=Curr Opin Rheumatol | year= 2003 | volume= 15 | issue= 4 | pages= 417-21 | pmid=12819469 | doi= | pmc= | url= }} </ref>
| | |
| * IA - [[Fas]]
| |
| * IB - [[Fas ligand]]
| |
| * IIA - [[Caspase 10]]
| |
| * IIB - [[Caspase 8]]
| |
| * III - unknown
| |
| * IV - [[Neuroblastoma RAS viral oncogene homolog]]
| |
| Revised nomenclature (2010)<ref name="pmid20538792">{{cite journal| author=Oliveira JB, Bleesing JJ, Dianzani U, Fleisher TA, Jaffe ES, Lenardo MJ et al.| title=Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop. | journal=Blood | year= 2010 | volume= 116 | issue= 14 | pages= e35-40 | pmid=20538792 | doi=10.1182/blood-2010-04-280347 | pmc=PMC2953894 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20538792 }} </ref>
| |
| * ALPS-FAS: [[Fas]]. Germline FAS mutations. 70% of patients. Autosomal dominant. Dominant negative and haploinsufficient mutations described.<ref name="pmid21490157">{{cite journal| author=Kuehn HS, Caminha I, Niemela JE, Rao VK, Davis J, Fleisher TA et al.| title=FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome. | journal=J Immunol | year= 2011 | volume= 186 | issue= 10 | pages= 6035-43 | pmid=21490157 | doi=10.4049/jimmunol.1100021 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21490157 }} </ref>
| |
| * ALPS-sFAS: [[Fas]]. Somatic FAS mutations in DNT compartment.<ref name="pmid15459302">{{cite journal| author=Holzelova E, Vonarbourg C, Stolzenberg MC, Arkwright PD, Selz F, Prieur AM et al.| title=Autoimmune lymphoproliferative syndrome with somatic Fas mutations. | journal=N Engl J Med | year= 2004 | volume= 351 | issue= 14 | pages= 1409-18 | pmid=15459302 | doi=10.1056/NEJMoa040036 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15459302 }} </ref> 10% of patients
| |
| * ALPS-FASL: [[Fas ligand]]. Germline FASL mutations. 3 reported cases
| |
| * ALPS-CASP10: [[Caspase 10]]. Germline CASP10 mutation. 2% of patients
| |
| * ALPS-U: Undefined. 20% of patients
| |
| * CEDS: Caspase 8 deficiency state. No longer considered a subtype of ALPS but a distinct disorder
| |
| * RALD: [[NRAS]] , [[KRAS]]. Somatic mutations in NRAS and KRAS in the lymphocyte compartment. No longer considered a subtype of ALPS but a distinct disease.
| |
| * Revised classification of ALPS
| |
|
| |
|
| ==References== | | ==References== |