Autoinflammatory Syndrome, Familial, Behcet-like; Aisbl

Description

Familial Behcet-like autoinflammatory syndrome is an autosomal dominant disorder characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas. Additional more variable features include skin rash, uveitis, and polyarthritis. Symptoms become apparent in the first or second decades. The disorder results from inappropriate activation of inflammatory cytokines; treatment with tumor necrosis factor (TNF ) inhibitors may be beneficial (summary by Zhou et al., 2016).

Clinical Features

Top most frequent phenotypes and symptoms related to Autoinflammatory Syndrome, Familial, Behcet-like; Aisbl

  • Anemia
  • Fever
  • Thrombocytopenia
  • Arthritis
  • Skin rash
  • Hemolytic anemia
  • Lymphopenia
  • Colitis
  • Autoimmune thrombocytopenia
  • Episodic fever
And another 7 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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Autoinflammatory Syndrome, Familial, Behcet-like; Aisbl Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TNFAIP3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

TNFAIP3
Specificity
100 %
Genes
100 %
Autoinflammatory syndrome, familial, Behcet-like (sequence analysis of TNFAIP3 gene).

By CGC Genetics in Portugal.

TNFAIP3
Specificity
100 %
Genes
100 %
Autoinflammatory syndrome, familial, Behcet-like (sequence analysis of TNFAIP3 gene).

By CGC Genetics in Portugal.

TNFAIP3
Specificity
100 %
Genes
100 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NLRP3, MVK, PSMB8, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12, IL36RN, CARD14, TNFAIP3
Specificity
8 %
Genes
100 %
Single gene testing TNFAIP3.

By CeGaT GmbH in Germany.

TNFAIP3
Specificity
100 %
Genes
100 %
TNFAIP3.

By Fulgent Genetics Fulgent Genetics in United States.

TNFAIP3
Specificity
100 %
Genes
100 %
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
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %
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
100 %

Alternate names

Autoinflammatory Syndrome, Familial, Behcet-like; Aisbl Is also known as ;behçet-like disease due to ha20; behçet-like disease due to haploinsufficiency of a20.



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