Description

Oliveira et al reported a revised nomenclature for autoimmune lymphoproliferative syndrome (ALPS). The criteria were developed at a 2009 NIH International Workshop.


 

Nomenclature:

(1) ALPS disorders

(2) ALPS-related disorders

 

The ALPS disorders meet the diagnostic criteria for ALPS.

 

Gene Affected

Findings

Term

FAS

homozygous or heterozygous germline mutation

ALPS-FAS

FAS

somatic mutation

ALPS-sFAS

FASLG (FAS ligand)

germline mutations

ALPS-FASLG

CASP10

germline mutations

ALPS-CASP10

undetermined

none of the above genetic defects identified

ALPS-U

 

The ALPS-related disroders

 

Gene Affected

Clinical Findings

Term

CASP8

lymphadenopathy, splenomegaly, recurrent infections

CEDS

NRAS

autoimmunity, lymphadenopathy, splenomegaly

RALD

SH2D1A

fulminant EBV infection, hypogamma-globulinemia, malignant lymphoma

XLP1

unknown

autoimmunity, lymphadenopathy, splenomegaly, defective in vitro FAS-mediated apoptosis

DALD

 

where:

• CEDS = caspase 8 deficiency state

• DALD = Dianzani autoimmune lymphoproliferative disorder

• DNT cells = CD3+TCR(alpha,beta)+CD4-CD8- double negative T cells

• RALD = RAS-assocaited autoimmune leukoproliferative disease

• XLP1 = X-linked lymphoproliferative disorder

 

Gene

Location

Name

FAS

10q24.1

Fas cell surface death receptor

FASLG

1q23

Fas ligand (TNF superfamily, member 6)

CASP10

2q33 to q34

caspase 10, apoptosis-related cysteine peptidase

CASP8

2q33 to q34

caspase 8, apoptosis-related cysteine peptidase

NRAS

1p13.2

neuroblastoma RAS viral (v-ras) oncogene homolog

SH2D1A

Xq25

SH2 domain containing 1A

 


To read more or access our algorithms and calculators, please log in or register.