Candidiasis, Familial, 2; Candf2

Clinical Features

Top most frequent phenotypes and symptoms related to Candidiasis, Familial, 2; Candf2

  • Seizures
  • Milia
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Erythema
  • Headache
  • Hyperkeratosis
  • Lymphadenopathy
  • Eczema
And another 12 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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Candidiasis, Familial, 2; Candf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CARD9 Deletion/duplication analysis.

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

CARD9
Specificity
100 %
Genes
100 %
CARD9 Sequencing.

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

CARD9
Specificity
100 %
Genes
100 %
Candidiasis, familial 2 AR (sequence analysis of CARD9 gene).

By CGC Genetics in Portugal.

CARD9
Specificity
100 %
Genes
100 %
Candidiasis, familial (NGS panel for 5 genes).

By CGC Genetics in Portugal.

IL17F, CARD9, TRAF3IP2, IL17RA, CLEC7A
Specificity
20 %
Genes
100 %
CARD9.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

CARD9
Specificity
100 %
Genes
100 %
Defects in innate immunity Panel.

By CeGaT GmbH in Germany.

STAT1, TLR3, TBK1, APOL1, MYD88, CXCR4, IRAK4, NFKBIA, IL17F, CARD9, UNC93B1, TRAF3, TICAM1, TMC6, TMC8, MCM4, TRAF3IP2, IL17RA, TIRAP
Specificity
6 %
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 %
CARD9.

By Fulgent Genetics Fulgent Genetics in United States.

CARD9
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 %
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes.

By Reference Laboratory Genetics in Spain.

TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %

Alternate names

Candidiasis, Familial, 2; Candf2 Is also known as candidiasis, familial chronic mucocutaneous, autosomal recessive, card9 immunodeficiency;invasive candidiasis-deep dermatophytosis syndrome.



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