Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections

Description

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

Clinical Features

Top most frequent phenotypes and symptoms related to Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Lymphadenopathy
  • Asthma
  • Eczema
  • Chronic diarrhea
  • Recurrent sinopulmonary infections

And another 2 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available there are 1 families with AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS in Europe.
No data available about the known clinical features onset.

Alternative names

Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections Is also known as caspase 8 deficiency syndrome, autoimmune lymphoproliferative syndrome, type iib, alps2b, ceds, alps with recurrent viral infections.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Autoimmune Lymphoproliferative Syndrome With Recurrent Viral Infections Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
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 (United States).

FAS, FASLG, CASP10, CASP8, MAGT1, FADD, ITK, KRAS, NRAS
Specificity
12 %
Genes
100 %
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel.

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

FAS, FASLG, CASP10, CASP8, MAGT1, FADD, ITK, KRAS, NRAS
Specificity
12 %
Genes
100 %
CASP8 Sequencing.

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

CASP8
Specificity
100 %
Genes
100 %
CASP8 Deletion/duplication analysis.

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

CASP8
Specificity
100 %
Genes
100 %
CASP8. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

CASP8
Specificity
100 %
Genes
100 %
Breast cancer (sequence analysis of CASP8 gene).

By CGC Genetics (Portugal).

CASP8
Specificity
100 %
Genes
100 %
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SH2D1A, STAT3, FAS, FASLG, CASP10, CASP8, LRBA, CTLA4, MAGT1, FADD, XIAP, ITK, KRAS, NRAS, PIK3CD, PRKCD
Specificity
7 %
Genes
100 %

You can get up to 18 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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