Autoimmune lymphoproliferative syndrome classification: Difference between revisions

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__NOTOC__
__NOTOC__
{{Autoimmune lymphoproliferative syndrome}}
{{Autoimmune lymphoproliferative syndrome}}
{{CMG}}; David Teachey, MD [mailto:TEACHEYD@email.chop.edu]
{{CMG}}; {{AE}}  David Teachey, MD [mailto:TEACHEYD@email.chop.edu] {{SharmiB}}


==Overview==
==Overview==
[[Classification]] of [[ALPS]] is based on the recommendations made by  first international [[ALPS]] workshop held at National Institutes of Health in 2009.


==Classification==
==Classification==
There is no established system for the classification of [disease name].
{| class="wikitable"
 
|+
OR
The revised [[classification]] of [[ALPS]] is as following <ref name="OliveiraBleesing2010">{{cite journal|last1=Oliveira|first1=Joao B.|last2=Bleesing|first2=Jack J.|last3=Dianzani|first3=Umberto|last4=Fleisher|first4=Thomas A.|last5=Jaffe|first5=Elaine S.|last6=Lenardo|first6=Michael J.|last7=Rieux-Laucat|first7=Frederic|last8=Siegel|first8=Richard M.|last9=Su|first9=Helen C.|last10=Teachey|first10=David T.|last11=Rao|first11=V. Koneti|title=Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop|journal=Blood|volume=116|issue=14|year=2010|pages=e35–e40|issn=0006-4971|doi=10.1182/blood-2010-04-280347}}</ref>
 
!Previous nomenclature
[Disease name] may be classified according to [classification method] into [number] subtypes/groups:
!Revised nomenclature   
 
!Gene   
[Group1]
!Definition
[Group2]
|-
[Group3]
|[[ALPS]]type IIb 
[Group4]
|CEDS
OR
|CASP8 
 
|[[Splenomegaly]], marginal raised DNT, recurrent [[infections]], [[germline]] [[mutations]] in [[caspase]] 8
[Disease name] may be classified into [large number > 6] subtypes based on:
|-
 
|[[ALPS]] type IV
[Classification method 1]
|RALD
[Classification method 2]
|NRAS
[Classification method 3]
|[[Autoimmunity]], [[lymphadenopathy]] and/or [[splenomegaly]], elevated or normal DNTs, [[somatic]] mutations in NRAS
[Disease name] may be classified into several subtypes based on:
|-
 
|DALD
[Classification method 1]
|DALD
[Classification method 2]
|Unknown
[Classification method 3]
|[[Lymphadenopathy]] and /or [[splenomegaly]], autoimmunity, normal DNTs, defective in vitro FAS-mediated apoptosis
OR
|-
 
|XLP1
Based on the duration of symptoms, [disease name] may be classified as either acute or chronic.
|XLP1
 
|SH2D1A
OR
|[[Hypogammaglobulinemia]], fulminant Epstein- Barr virus [[infection]], or [[lymphoma]]
 
|}
If the staging system involves specific and characteristic findings and features:
<br />
 
According to the [staging system + reference], there are [number] stages of [malignancy name] based on the [finding1], [finding2], and [finding3]. Each stage is assigned a [letter/number1] and a [letter/number2] that designate the [feature1] and [feature2].
 
OR
 
The staging of [malignancy name] is based on the [staging system].
 
OR
 
There is no established system for the staging of [malignancy name].
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 distinct disorder
* RALD: [[NRAS]] , [[KRAS]].  Somatic mutations in NRAS and KRAS in lympocyte comparment.  No longer considered a subtype of ALPS but distinct disesase.


==References==
==References==
{{reflist|2}}
{{reflist|2}}


[[Category:Hematology]]
[[Category:Hematology]]
{{WH}}
{{WS}}

Latest revision as of 02:19, 11 August 2021

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: David Teachey, MD [2] Sharmi Biswas, M.B.B.S

Overview

Classification of ALPS is based on the recommendations made by first international ALPS workshop held at National Institutes of Health in 2009.

Classification

The revised classification of ALPS is as following [1]
Previous nomenclature Revised nomenclature Gene Definition
ALPStype IIb CEDS CASP8 Splenomegaly, marginal raised DNT, recurrent infections, germline mutations in caspase 8
ALPS type IV RALD NRAS Autoimmunity, lymphadenopathy and/or splenomegaly, elevated or normal DNTs, somatic mutations in NRAS
DALD DALD Unknown Lymphadenopathy and /or splenomegaly, autoimmunity, normal DNTs, defective in vitro FAS-mediated apoptosis
XLP1 XLP1 SH2D1A Hypogammaglobulinemia, fulminant Epstein- Barr virus infection, or lymphoma


References

  1. ↑ Oliveira, Joao B.; Bleesing, Jack J.; Dianzani, Umberto; Fleisher, Thomas A.; Jaffe, Elaine S.; Lenardo, Michael J.; Rieux-Laucat, Frederic; Siegel, Richard M.; Su, Helen C.; Teachey, David T.; Rao, V. Koneti (2010). "Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop". Blood. 116 (14): e35–e40. doi:10.1182/blood-2010-04-280347. ISSN 0006-4971.
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