Immunodeficiency 51; Imd51

Table of contents:

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

Description

Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (OMIM ), IL17F (OMIM ), IL17A/F, and IL17E (IL25 ) (summary by Levy et al., 2016).

Genes related to Immunodeficiency 51; Imd51

IL17RA

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Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 51; Imd51

Immunodeficiency
Recurrent infections
Pneumonia
Recurrent respiratory infections
Respiratory tract infection
Inflammatory abnormality of the skin
Recurrent otitis media
Sinusitis
Recurrent skin infections
Bronchitis

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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

Immunodeficiency 51; Imd51 Is also known as candf5, formerly, candidiasis, familial, 5, formerly.

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.

Immunodeficiency 51; Imd51 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Candidiasis, familial 5 AR (sequence analysis of IL17RA gene). By CGC Genetics (Portugal). IL17RA Specificity 100 % Genes 100 %
Candidiasis, familial (NGS panel for 5 genes). By CGC Genetics (Portugal). TRAF3IP2, CLEC7A, CARD9, IL17F, IL17RA Specificity 20 % Genes 100 %
IL17RA. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). IL17RA Specificity 100 % Genes 100 %
Candidiasis (CMC) panel. By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands). STAT1, TLR3, IL17F, AIRE, IL17RA, IL2RA Specificity 17 % Genes 100 %
Defects in innate immunity Panel. By CeGaT GmbH (Germany). STAT1, TBK1, TLR3, TRAF3, TRAF3IP2, UNC93B1, CARD9, IL17F, TIRAP, IRAK4, TMC6, TICAM1, TMC8, CXCR4, IL17RA, APOL1, MCM4, MYD88, NFKBIA Specificity 6 % Genes 100 %
Invitae Chronic Mucocutaneous Candidiasis Panel. By Invitae (United States). TRAF3IP2, IL17F, IL17RC, IL17RA Specificity 25 % Genes 100 %
Invitae Primary Immunodeficiency Panel. By Invitae (United States). RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...) View the complete list with 187 more genes Panel complete gene list RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2, TERC, TERT, TINF2, TLR3, TNFRSF1A, TNFRSF4, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TRAF3, TREX1, ACP5, TYK2, UNG, WAS, WIPF1, FOXN1, ZAP70, ACTB, AICDA, TRAF3IP2, UNC93B1, ITCH, BLNK, NHP2, NOP10, LPIN2, VPS45, CASP10, CASP8, SPINK5, IL36RN, RBCK1, RTEL1, SAMHD1, CARD9, CARD11, NLRP3, IL17F, NLRC4, CARD14, CD3D, CD3E, CD3G, CD247, HAX1, CD79A, CD79B, CD8A, TRNT1, LRBA, DCLRE1B, DCLRE1C, TNFRSF13C, IRAK4, TMC6, TNFRSF13B, TICAM1, IL17RC, CEBPE, ADA2, RNASEH2A, ADA, IFIH1, DOCK8, ADAM17, LYST, TTC7A, SLC35C1, TMC8, CHD7, ZBTB24, VPS13B, COPA, ADAR, CORO1A, NLRP12, SLC29A3, UNC13D, FERMT3, CR2, RNASEH2C, CSF2RA, CSF3R, G6PC3, MOGS, CTLA4, ACD, CTPS1, CTSC, CXCR4, RNASEH2B, NHEJ1, CYBA, CYBB, ORAI1, CTC1, JAGN1, TMEM173, MAGT1, DKC1, EPG5, DNMT3B, LAMTOR2, DOCK2, CLPB, ELANE, FADD, AIRE, AK2, FPR1, ISG15, SLC37A4, GATA2, GFI1, TAP1, TAP2, NOD2, ICOS, IRF8, SP110, IFNGR1, IFNGR2, AP3B1, IGLL1, XIAP, IKBKB, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17RA, IL1RN, IL21, IL21R, IL2RA, IL2RG, IL7R, FOXP3, IRF7, ITGB2, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, MEFV, CIITA, MVK, MYD88, NBN, NCF2, NCF4, NFAT5, NFKB2, NFKBIA, PNP, ATM, BLOC1S6, PARN, PGM3, PIK3CD, PIK3R1, PLCG2, PMS2, B2M, POLE, PRF1, PRKCD, PRKDC, PSMB8, PSTPIP1, PTPRC, RAB27A, RAC2, RAG1, RAG2, BCL10, RFX5, RFXANK, RFXAP Specificity 1 % Genes 100 %
IL17RA. By Fulgent Genetics Fulgent Genetics (United States). IL17RA Specificity 100 % Genes 100 %

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Sources and references

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