Autoinflammation With Infantile Enterocolitis; Aifec

Description

Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy. Affected individuals tend to have poor overall growth and gastrointestinal symptoms in infancy associated with laboratory evidence of activated inflammation. This initial presentation is followed by recurrent febrile episodes with splenomegaly and sometimes hematologic disturbances, arthralgias, or myalgias. The disorder results from overactivation of an arm of the immune response system (Romberg et al., 2014; Canna et al., 2014).

Clinical Features

Top most frequent phenotypes and symptoms related to Autoinflammation With Infantile Enterocolitis; Aifec

  • Short stature
  • Failure to thrive
  • Anemia
  • Splenomegaly
  • Fever
  • Diarrhea
  • Fatigue
  • Vomiting
  • Erythema
  • Arthritis
And another 13 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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Autoinflammation With Infantile Enterocolitis; Aifec Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NLRC4 Sequencing.

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

NLRC4
Specificity
100 %
Genes
100 %
NLRC4.

By Institute for Human Genetics University Clinic Freiburg in Germany.

NLRC4
Specificity
100 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Single gene testing NLRC4.

By CeGaT GmbH in Germany.

NLRC4
Specificity
100 %
Genes
100 %
Invitae Periodic Fever Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, ELANE, LPIN2, TNFRSF1A, NLRC4, ADA2, PSTPIP1, NLRP12, TRNT1
Specificity
9 %
Genes
100 %
Invitae Monogenic Inflammatory Bowel Disease Panel.

By Invitae in United States.

STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1 , (...)

View the complete list with 26 more genes
Specificity
3 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, IL10RA, NLRC4, IL10RB, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Invitae Familial Cold Autoinflammatory Syndrome Panel.

By Invitae in United States.

NLRP3, NLRC4, NLRP12, PLCG2
Specificity
25 %
Genes
100 %
Hemophagocytic Lymphohistiocytosis: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

AP3B1, GATA2, PRF1, SLC7A7, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27, NLRC4
Specificity
7 %
Genes
100 %
NLRC4.

By Fulgent Genetics Fulgent Genetics in United States.

NLRC4
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 %
FAMILIAL COLD AUTOINFLAMMATORY SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

NLRP3, NLRC4, NLRP12
Specificity
34 %
Genes
100 %

Alternate names

Autoinflammation With Infantile Enterocolitis; Aifec Is also known as ;nlrc4-related mas; nlrc4-related autoinflammatory syndrome with mas; nlrc4-related autoinflammatory syndrome with macrophage activation syndrome; nlrc4-related infantile enterocolitis-autoinflammatory syndrome; nlrc4-related macrophage activation syndrome.



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