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 |
Specialty: Immunology/Rheumatology, Hematology Oncology