Autoimmune Lymphoproliferative Syndrome; Alps

Description

Autoimmune lymphoproliferative syndrome is a heritable disorder of apoptosis, resulting in the accumulation of autoreactive lymphocytes. It manifests in early childhood as nonmalignant lymphadenopathy with hepatosplenomegaly and autoimmune cytopenias (summary by Dowdell et al., 2010).For a review of the autoimmune lymphoproliferative syndromes, see Teachey et al. (2009). Genetic Heterogeneity of Autoimmune Lymphoproliferative SyndromeType IIA ALPS (ALPS2A ) is caused by mutation in the caspase-10 gene (CASP10 ). Puck and Straus (2004) designated caspase-8 deficiency (OMIM ), caused by mutations in the CASP8 gene (OMIM ), as type IIB ALPS. ALPS3 (OMIM ) is caused by mutation in the PRKCD gene (OMIM ). RAS-associated ALPS (RALD, or ALPS4; {614470}) is caused by mutation in the NRAS gene (OMIM ). ALPS5 (OMIM ) is caused by mutation in the CTLA4 gene (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Autoimmune Lymphoproliferative Syndrome; Alps

  • Ptosis
  • Anemia
  • Neoplasm
  • Hepatomegaly
  • Splenomegaly
  • Edema
  • Renal insufficiency
  • Thrombocytopenia
  • Hepatosplenomegaly
  • Carcinoma
And another 47 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Autoimmune Lymphoproliferative Syndrome; Alps Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CASP10 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CASP10
Specificity
100 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CASP8, KRAS, NRAS, MAGT1, FAS, FASLG, CASP10, ITK, FADD
Specificity
34 %
Genes
75 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CASP8, KRAS, NRAS, MAGT1, FAS, FASLG, CASP10, ITK, FADD
Specificity
34 %
Genes
75 %
CASP10 Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

CASP10
Specificity
100 %
Genes
25 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, ADA, BLM, ATM, NBN, PRF1, WAS, NF1, MAGT1, DOCK8, SH2D1A, IKZF1, TNFRSF13B, FAS, FASLG, CASP10, STXBP2, ITK, PIK3CD , (...)

View the complete list with 3 more genes
Specificity
14 %
Genes
75 %
CASP10. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

CASP10
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome type II (sequence analysis of CASP10 gene).

By CGC Genetics in Portugal.

CASP10
Specificity
100 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

CASP8, STAT3, KRAS, NRAS, MAGT1, SH2D1A, FAS, XIAP, FASLG, CASP10, ITK, PIK3CD, LRBA, FADD, CTLA4, PRKCD
Specificity
25 %
Genes
100 %
CASP10.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CASP10
Specificity
100 %
Genes
25 %
ALPS/autoimmunity panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CASP8, AIRE, KRAS, NRAS, FOXP3, FAS, FASLG, CASP10, LRBA, FADD, IL2RA, ITCH
Specificity
25 %
Genes
75 %
Autoimmune lymphoproliferative syndrome.

By Centogene AG - the Rare Disease Company in Germany.

CASP10
Specificity
100 %
Genes
25 %
Bone marrow failure syndromes with Leukemia Panel.

By CeGaT GmbH in Germany.

RUNX1, NBN, CEBPA, GATA1, CASP10
Specificity
20 %
Genes
25 %
Immune dysregulation Panel.

By CeGaT GmbH in Germany.

CASP8, AP3B1, AIRE, PRF1, TREX1, FOXP3, LYST, SH2D1A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, PRKCD, CARD11, IL2RA, ITCH , (...)

View the complete list with 2 more genes
Specificity
19 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae in United States.

STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...)

View the complete list with 53 more genes
Specificity
6 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
2 %
Genes
100 %
CASP10.

By Fulgent Genetics Fulgent Genetics in United States.

CASP10
Specificity
100 %
Genes
25 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
2 %
Genes
100 %
Autoimmune lymphoproliferative syndrome type 2A.

By Bioarray in Spain.

CASP10
Specificity
100 %
Genes
25 %
LYMPHOPROLIFERATIVE SYNDROME, AUTOIMMUNE.

By Laboratorio de Genetica Clinica SL in Spain.

CASP8, NRAS, FAS, FASLG, CASP10
Specificity
60 %
Genes
75 %
Autoimmune Lymphoproliferative Syndrome Type II, Sequencing CASP10 Gene.

By Reference Laboratory Genetics in Spain.

CASP10
Specificity
100 %
Genes
25 %
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes.

By Reference Laboratory Genetics in Spain.

CASP8, KRAS, NRAS, MAGT1, FAS, FASLG, CASP10, ITK, FADD, CTLA4
Specificity
30 %
Genes
75 %
PRKCD Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

PRKCD
Specificity
100 %
Genes
25 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
25 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

STAT1, UNG, STAT3, IKBKG, GATA2, BTK, SH2D1A, IKZF1, AICDA, CD40LG, XIAP, CXCR4, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, ADA2 , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
25 %
Autoimmune lymphoproliferative syndrome type 3.

By Centogene AG - the Rare Disease Company in Germany.

PRKCD
Specificity
100 %
Genes
25 %
Invitae Common Variable Immunodeficiency Panel.

By Invitae in United States.

STAT3, TNFRSF13B, RAC2, PIK3CD, LRBA, CD27, NFKB2, CTLA4, PIK3R1, CR2, ICOS, TNFRSF13C, PRKCD, PLCG2, IL21, IL21R, TNFSF12
Specificity
6 %
Genes
25 %
Invitae Autoimmune Lymphoproliferative Disorders (ALPS) Panel.

By Invitae in United States.

CASP8, MAGT1, FAS, FASLG, ITK, PIK3CD, CTLA4, PRKCD
Specificity
38 %
Genes
75 %
PRKCD.

By Fulgent Genetics Fulgent Genetics in United States.

PRKCD
Specificity
100 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome Type III, Sequencing PRKCD Gene.

By Reference Laboratory Genetics in Spain.

PRKCD
Specificity
100 %
Genes
25 %
152 Integrated Advantage NGS Solid Tumor Panel.

By Integrated Molecular Diagnostics Pathology, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, MLH1, PTEN, TP53, RB1, RET, RAF1, IDH2, TYMP, STAT3, FGFR3, AR, FANCC, BRAF, HRAS, KRAS , (...)

View the complete list with 132 more genes
Specificity
1 %
Genes
25 %
FASLG Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FASLG
Specificity
100 %
Genes
25 %
FASLG Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FASLG
Specificity
100 %
Genes
25 %
FASLG. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FASLG
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (sequence analysis of FASLG gene).

By CGC Genetics in Portugal.

FASLG
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FASLG).

By CGC Genetics in Portugal.

FASLG
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FASLG).

By CGC Genetics in Portugal.

FASLG
Specificity
100 %
Genes
25 %
FASLG.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

FASLG
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FASLG
Specificity
100 %
Genes
25 %
FASLG.

By Fulgent Genetics Fulgent Genetics in United States.

FASLG
Specificity
100 %
Genes
25 %
Hemophagocytic Lymphohistiocytosis Panel.

By Blueprint Genetics in Finland.

RECQL4, PRF1, MAGT1, LYST, SH2D1A, MYO5A, RAB27A, UNC13D, FAS, STX11, XIAP, FASLG, STXBP2, ITK, FADD
Specificity
14 %
Genes
50 %
Comprehensive Hematology Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, F2, F5, HFE, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, YARS2, PC, HBB, TYRP1, OCA2, AMN, SLC45A2 , (...)

View the complete list with 219 more genes
Specificity
1 %
Genes
50 %
Autoimmune lymphoproliferative syndrome type 1B.

By Bioarray in Spain.

FASLG
Specificity
100 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome Type IB, Sequencing FASLG Gene.

By Reference Laboratory Genetics in Spain.

FASLG
Specificity
100 %
Genes
25 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
FAS Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FAS
Specificity
100 %
Genes
25 %
FAS Deletion/duplication analysis.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center in United States.

FAS
Specificity
100 %
Genes
25 %
FAS (TNFRSF6) Gene Sequencing.

By GeneDx in United States.

FAS
Specificity
100 %
Genes
25 %
FAS. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

FAS
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (sequence analysis of FAS gene).

By CGC Genetics in Portugal.

FAS
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FAS gene).

By CGC Genetics in Portugal.

FAS
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (deletion/duplication analysis of FAS gene).

By CGC Genetics in Portugal.

FAS
Specificity
100 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome via FAS Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FAS
Specificity
100 %
Genes
25 %
FAS.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

FAS
Specificity
100 %
Genes
25 %
Autoimmune lymphoproliferative syndrome.

By Centogene AG - the Rare Disease Company in Germany.

FAS
Specificity
100 %
Genes
25 %
Single gene testing FAS.

By CeGaT GmbH in Germany.

FAS
Specificity
100 %
Genes
25 %
FAS.

By Fulgent Genetics Fulgent Genetics in United States.

FAS
Specificity
100 %
Genes
25 %
Bone Marrow Failure Syndrome Panel.

By Blueprint Genetics in Finland.

BRCA1, BRCA2, EPCAM, MSH2, PMS2, MSH6, MLH1, RECQL4, RUNX1, TP53, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, RPL35A, HAX1 , (...)

View the complete list with 102 more genes
Specificity
1 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing.

By Genomic Research Center Shahid Beheshti University of Medical Sciences in Iran.

FAS
Specificity
100 %
Genes
25 %
Focus::DLBCL&FL™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
25 %
Focus::Lymphoma™ NGS Panel.

By Cancer Genetics, Inc. Cancer Genetics, Inc. in United States.

PTEN, TP53, STAT3, BRAF, CREBBP, KRAS, ATM, CDKN2A, BTK, KMT2D, MTOR, NOTCH1, EZH2, ARID1A, EP300, TET2, MYD88, IKZF1, FAS, PIK3CD , (...)

View the complete list with 29 more genes
Specificity
3 %
Genes
25 %
Autoimmune lymphoproliferative syndrome type 1A.

By Bioarray in Spain.

FAS
Specificity
100 %
Genes
25 %
FoundationOne® Heme.

By Foundation Medicine, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, PC, FOXL2, HNF1A, WT1, RB1, RET, TNFRSF11A, CPS1, SDHC , (...)

View the complete list with 385 more genes
Specificity
1 %
Genes
25 %
Autoimmune lymphoproliferative syndrome (ALPS); FAS Sequencing.

By Center for Comprehensive Genetic Services Shahid Beheshti University of Medical Sciences in Iran.

FAS
Specificity
100 %
Genes
25 %
NeoTYPE® Discovery Profile for Solid Tumors.

By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RUNX1, TP53, FOXL2, HNF1A, WT1, RB1, RET, SDHC, RAF1, FH , (...)

View the complete list with 295 more genes
Specificity
1 %
Genes
25 %
Caris MI TumorSeek 592-Gene NGS Panel.

By Caris Life Sciences in United States.

BRCA1, BRCA2, VHL, APC, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, FOXL2, HNF1A, PPARG, COL1A1, WT1, RB1, SDHAF2 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %
Otogenetics Hearing Loss and Deafness Multi-Gene NGS Panel.

By Otogenetics in United States.

USH1G, USH1C, BCS1L, PDZD7, EYA4, WFS1, JAG1, NDP, ADGRV1, CLRN1, USH2A, PCDH15, SLC26A4, WHRN, CDH23, MSRB3, MYO7A, TIMM8A, SOX2, FGFR3 , (...)

View the complete list with 109 more genes
Specificity
1 %
Genes
25 %
Autoimmune Lymphoproliferative Syndrome Type IA, Sequencing FAS Gene.

By Reference Laboratory Genetics in Spain.

FAS
Specificity
100 %
Genes
25 %
Tempus xT assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, MTHFR, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ATP7B, FOXL2, HNF1A, WT1, RB1 , (...)

View the complete list with 571 more genes
Specificity
1 %
Genes
25 %

Alternate names

Autoimmune Lymphoproliferative Syndrome; Alps Is also known as canale-smith syndrome, autoimmune lymphoproliferative syndrome, type i, autosomal dominant;alps; canale-smith syndrome; fas deficiency.



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