Autoimmune lymphoproliferative syndrome classification: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
 
(11 intermediate revisions by 2 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Autoimmune lymphoproliferative syndrome}}
{{Autoimmune lymphoproliferative syndrome}}
{{CMG}}; David Teachey, MD [mailto:TEACHEYD@email.chop.edu] {{SharmiB}}
{{CMG}}; {{AE}}  David Teachey, MD [mailto:TEACHEYD@email.chop.edu] {{SharmiB}}


==Overview==
==Overview==
[[Classification]] of [[Autoimmune lymphoproliferative syndrome]] is done by following the revised [[diagnostic]] [[criteria]] and [[classification]] guidelines came from an international workshop held in NIH in September 2009.
 
[[Classification]] of [[ALPS]] is based on the recommendations made by first international [[ALPS]] workshop held at National Institutes of Health in 2009.


==Classification==
==Classification==
 
{| class="wikitable"
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>
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>
* IA - [[Fas]]
!Previous nomenclature
* IB - [[Fas ligand]]
!Revised nomenclature   
* IIA - [[Caspase 10]]
!Gene   
* IIB  - [[Caspase 8]] 
!Definition
* III - unknown
|-
* IV - [[Neuroblastoma RAS viral oncogene homolog]]
|[[ALPS]]type IIb 
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>
|CEDS
* 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>
|CASP8 
* 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
|[[Splenomegaly]], marginal raised DNT, recurrent [[infections]], [[germline]] [[mutations]] in [[caspase]] 8
* ALPS-FASL: [[Fas ligand]].  Germline FASL mutations. 3 reported cases
|-
* ALPS-CASP10: [[Caspase 10]].  Germline CASP10 mutation. 2% of patients
|[[ALPS]] type IV
* ALPS-U: Undefined. 20% of patients
|RALD
* CEDS: Caspase 8 deficiency state.  No longer considered a subtype of ALPS but a distinct disorder
|NRAS
* RALD: [[NRAS]] , [[KRAS]].  Somatic mutations in NRAS and KRAS in the lymphocyte compartment.  No longer considered a subtype of ALPS but a distinct disease.
|[[Autoimmunity]], [[lymphadenopathy]] and/or [[splenomegaly]], elevated or normal DNTs, [[somatic]] mutations in NRAS
* Revised classification of ALPS
|-
|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]]
|}
<br />


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


[[Category:Hematology]]
[[Category:Hematology]]

Latest revision as of 02:19, 11 August 2021

Autoimmune lymphoproliferative syndrome Microchapters

Home

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Autoimmune lymphoproliferative syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Autoimmune lymphoproliferative syndrome classification On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Autoimmune lymphoproliferative syndrome classification

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Autoimmune lymphoproliferative syndrome classification

CDC on Autoimmune lymphoproliferative syndrome classification

Autoimmune lymphoproliferative syndrome classification in the news

Blogs on Autoimmune lymphoproliferative syndrome classification

Directions to Hospitals Treating Autoimmune lymphoproliferative syndrome

Risk calculators and risk factors for Autoimmune lymphoproliferative syndrome classification

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.
Retrieved from "https://www.wikidoc.org/index.php?title=Autoimmune_lymphoproliferative_syndrome_classification&oldid=1710686"