Autoinflammation-plcg2-associated Antibody Deficiency-immune Dysregulation

Table of contents:

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

Description

Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation is a mixed autoinflammatory and autoimmune syndrome disorder characterized by recurrent neutrophilic blistering skin lesions, arthralgia, ocular inflammation, inflammatory bowel disease, absence of autoantibodies, and mild immunodeficiency manifested by recurrent sinopulmonary infections and deficiency of circulating antibodies. Inflammatory phenotype is not provoked by cold temperatures.

Genes related to Autoinflammation-plcg2-associated Antibody Deficiency-immune Dysregulation

PLCG2

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Clinical Features

Top most frequent phenotypes and symptoms related to Autoinflammation-plcg2-associated Antibody Deficiency-immune Dysregulation

Cataract
Immunodeficiency
Recurrent infections
Arthralgia
Erythema
Abnormal blistering of the skin
Colitis
Cellulitis
IgA deficiency
Corneal erosion

And another 7 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

Autoinflammation-plcg2-associated Antibody Deficiency-immune Dysregulation Is also known as aplaid.

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.

Autoinflammation-plcg2-associated Antibody Deficiency-immune Dysregulation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PLCG2. By Institute for Human Genetics University Clinic Freiburg (Germany). PLCG2 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 %
Autoinflammatory panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). SH3BP2, TNFRSF1A, LPIN2, IL36RN, NLRP3, NCSTN, NLRP12, NLRP7, PSENEN, NOD2, IL10, IL10RA, IL10RB, IL1RN, MEFV, MVK, PLCG2, PSMB8, PSTPIP1 Specificity 6 % Genes 100 %
Autoinflammatory diseases Panel. By CeGaT GmbH (Germany). SH3BP2, TNFRSF1A, LPIN2, IL36RN, RBCK1, NLRP3, CARD14, NLRP12, SLC29A3, HFE, NOD2, IL10, IL10RA, IL10RB, IL1RN, MEFV, MVK, PLCG2, PSMB8, PSTPIP1 Specificity 5 % Genes 100 %
Single gene testing PLCG2. By CeGaT GmbH (Germany). PLCG2 Specificity 100 % Genes 100 %
Invitae Common Variable Immunodeficiency Panel. By Invitae (United States). STAT3, CD27, TNFSF12, LRBA, TNFRSF13C, TNFRSF13B, CR2, CTLA4, ICOS, IL21, IL21R, NFKB2, PIK3CD, PIK3R1, PLCG2, PRKCD, RAC2 Specificity 6 % Genes 100 %
Invitae Monogenic Autoimmunity Panel. By Invitae (United States). RMRP, SH2D1A, SLC7A7, BTK, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TREX1, ACP5, UNG , (...) View the complete list with 53 more genes Panel complete gene list RMRP, SH2D1A, SLC7A7, BTK, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TREX1, ACP5, UNG, WAS, AICDA, ITCH, CASP10, CASP8, SAMHD1, LRBA, TNFRSF13C, TNFRSF13B, ADA2, RNASEH2A, IFIH1, DOCK8, LYST, ADAR, UNC13D, CR2, RNASEH2C, CTLA4, RNASEH2B, CYBA, CYBB, ORAI1, TMEM173, FADD, AIRE, ICOS, AP3B1, XIAP, IL10, IL10RA, IL10RB, IL21, IL21R, IL2RA, FOXP3, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, PNP, BLOC1S6, PIK3CD, PIK3R1, PLCG2, PRF1, PRKCD, RAB27A, RAC2, RFX5, RFXANK, RFXAP Specificity 2 % Genes 100 %
Invitae Monogenic Inflammatory Bowel Disease Panel. By Invitae (United States). SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3 , (...) View the complete list with 26 more genes Panel complete gene list SH2D1A, BTK, STAT1, STAT3, STIM1, STXBP2, CD40LG, WAS, ZAP70, AICDA, RTEL1, NLRC4, CD3G, LRBA, DCLRE1C, ADA, DOCK8, ADAM17, TTC7A, G6PC3, CTLA4, CYBA, CYBB, DKC1, SLC37A4, ICOS, XIAP, IL10, IL10RA, IL10RB, IL21, IL2RA, IL2RG, FOXP3, ITGB2, LIG4, MEFV, MVK, NCF2, NCF4, NFAT5, PIK3CD, PIK3R1, PLCG2, RAG1, RAG2 Specificity 3 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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