Autoimmune Lymphoproliferative Syndrome, Type Iii; Alps3

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Autoimmune lymphoproliferative syndrome type III is an autosomal recessive disorder of immune dysregulation. The phenotype is variable, but most patients have significant lymphadenopathy associated with variable autoimmune manifestations. Some patients may have recurrent infections. Lymphocyte accumulation results from a combination of impaired apoptosis and excessive proliferation (summary by Oliveira, 2013).For a general description and a discussion of genetic heterogeneity of ALPS, see {601859}.

Genes related to Autoimmune Lymphoproliferative Syndrome, Type Iii; Alps3

PRKCD

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Clinical Features

Top most frequent phenotypes and symptoms related to Autoimmune Lymphoproliferative Syndrome, Type Iii; Alps3

Anemia
Hepatomegaly
Splenomegaly
Immunodeficiency
Recurrent infections
Thrombocytopenia
Arthralgia
Hepatosplenomegaly
Arthritis
Erythema

And another 20 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Alternative names

Autoimmune Lymphoproliferative Syndrome, Type Iii; Alps3 Is also known as cvid9, formerly, immunodeficiency, common variable, 9, formerly.

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, Type Iii; Alps3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PRKCD Sequencing. By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States). PRKCD Specificity 100 % Genes 100 %
Primary Antibody Deficiency Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM , (...) View the complete list with 15 more genes Panel complete gene list SH2D1A, BTK, CD40, CD40LG, UNG, VAV1, AICDA, BLNK, CD19, CD79A, CD79B, CD81, LRBA, TNFRSF13C, TNFRSF13B, ADA, LRRC8A, CR2, ICOS, IGHM, IGLL1, XIAP, IKBKG, MRE11, MS4A1, NBN, NFKB2, NFKBIA, ATM, PIK3CD, PIK3R1, PLCG2, PRKCD, PTPRC, RAG2 Specificity 3 % Genes 100 %
Humoral dysfunction Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...) View the complete list with 4 more genes Panel complete gene list SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R, NFKB1, NFKB2, PIK3R1, PRKCD Specificity 5 % Genes 100 %
Humoral dysfunction Seq Analysis. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...) View the complete list with 4 more genes Panel complete gene list SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R, NFKB1, NFKB2, PIK3R1, PRKCD Specificity 5 % Genes 100 %
Humoral dysfunction Seq + Del/Dup Panel. By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States). SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...) View the complete list with 4 more genes Panel complete gene list SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R, NFKB1, NFKB2, PIK3R1, PRKCD Specificity 5 % 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 %
Autoimmune lymphoproliferative syndrome type 3. By Centogene AG - the Rare Disease Company (Germany). PRKCD Specificity 100 % Genes 100 %
Immune dysregulation Panel. By CeGaT GmbH (Germany). SH2D1A, STX11, STXBP2, FAS, FASLG, TREX1, ITCH, CASP10, CASP8, CARD11, LYST, UNC13D, AIRE, FCGR2B, AOAH, AP3B1, XIAP, IL2RA, FOXP3, PRF1 , (...) View the complete list with 2 more genes Panel complete gene list SH2D1A, STX11, STXBP2, FAS, FASLG, TREX1, ITCH, CASP10, CASP8, CARD11, LYST, UNC13D, AIRE, FCGR2B, AOAH, AP3B1, XIAP, IL2RA, FOXP3, PRF1, PRKCD, RAB27A Specificity 5 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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