Autoimmune lymphoproliferative syndrome classification: Difference between revisions

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==Classification==
==Classification==


The presence of 2 required and 6 additional [[criteria]] are required to [[diagnose]] [[Autoimmune lymphoproliferative syndrome]]([[ALPS]]).
The revised [[classification]] of [[ALPS]] is as following


Required [[criteria]]-
Previous nomenclature      Revised nomenclature      Gene              Definition
* [[Chronic]] [[lymphadenopathy]]


* [[Splenomegaly]] (+/-)
[[ALPS]]type IIb            CEDS                      CASP8            [[Splenomegaly]], marginal raised DNT, recurrent [[infections]], [[germline]] [[mutations]] in [[caspase]] 8


* Increased circulating TCRαβ+ DNT [[cells]]
[[ALPS]] type IV                RALD                      NRAS            [[Autoimmunity]], [[lymphadenopathy]] and/or [[splenomegaly]], elevated or normal DNTs, [[somatic]] mutations in NRAS


Additional criteria-
DALD                        DALD                      Unknown          [[Lymphadenopathy]] and /or [[splenomegaly]], autoimmunity, normal DNTs, defective in vitro FAS-mediated apoptosis


* Primary
XLP1                        XLP1                      SH2D1A          [[Hypogammaglobulinemia]], fulminant Epstein- Barr virus [[infection]], or [[lymphoma]]
 
- Abnormal [[lymphocyte]] [[apoptosis]] assay
 
- Presence of [[pathogenic]] [[mutations]] in FAS pathway [[genes]]
 
* Secondary-
 
- Elevated circulating [[biomarkers]]
 
- characteristic [[histopathology]] of [[ALPS]]
 
- Family history of [[ALPS]]
 
Definitive [[diagnosis]] of [[ALPS]]- 2 required [[criteria]] and either of the 2 primary additional [[criteria]]
 
Probable [[diagnosis]]- 2 required [[criteria]] and one of the primary additional [[criteria]]
 
Previous nomenclature Revised nomenclature Gene Definition
ALPS type IIb CEDS CASP8 Patients present with lymphadenopathy and/or splenomegaly, marginal DNT elevation, recurrent infections, and germline mutations in caspase 8.
ALPS type IV RALD NRAS Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, elevated or normal DNTs, and somatic mutations in NRAS.
DALD DALD Unknown Patients present with autoimmunity, lymphadenopathy and/or splenomegaly, normal DNTs, and defective in vitro FAS-mediated apoptosis.
XLP1 XLP1 SH2D1A Patients present with fulminant Epstein-Barr virus infection, hypogammaglobulinemia, or lymphoma.


==References==
==References==

Revision as of 04:02, 6 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

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