Autoinflammation-plcg2-associated Antibody Deficiency-immune Dysregulation

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.

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.


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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
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
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
Specificity
3 %
Genes
100 %

We have 15 more panels available in our App

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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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