Immunodeficiency 43; Imd43

Table of contents:

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

Genes related to Immunodeficiency 43; Imd43

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 43; Imd43

Immunodeficiency
Recurrent respiratory infections
Diabetes mellitus
Proteinuria
Sepsis
Inflammatory abnormality of the skin
Subcutaneous nodule
Bronchiectasis
Hypoalbuminemia
Hypoplasia of the ulna

And another 3 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

Immunodeficiency 43; Imd43 Is also known as beta-2-microglobulin deficiency, b2m deficiency, hypoproteinemia, hypercatabolic.

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 43; Imd43 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hyperferritinemia Panel. By Molecular Genetics Laboratory Centro de Investigaciones Endocrinologicas "Dr. Cesar Bergada" (Argentina). SEC23B, SLC40A1, TF, TFR2, HAMP, CDAN1, CP, STEAP3, SLC25A38, ALAS2, FTH1, FTL, HFE, HJV, B2M Specificity 7 % Genes 100 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Hereditary amyloidosis (NGS panel of 19 genes). By CGC Genetics (Portugal). TACSTD2, TGFBI, TNFRSF1A, TTR, NLRP3, IL31RA, CST3, F10, FGA, GSN, APP, LYZ, MEFV, OSMR, B2M, PRNP, RET Specificity 6 % Genes 100 %
Hereditary Amyloidosis, gene sequencing panel. By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States). TTR, FGA, GSN, LYZ, B2M Specificity 20 % Genes 100 %
Custom gene seqeuncing panel. By Molecular Diagnostics Laboratory University of Toledo Medical Center (United States). RYR1, SDHA, SDHC, EPCAM, TP53, TSC1, TSC2, TTR, VHL, CACNA1S, POT1, CDK4, CDKN2A, ACD, FLCN, FGA, FH, GSN, LYZ, MC1R , (...) View the complete list with 9 more genes Panel complete gene list RYR1, SDHA, SDHC, EPCAM, TP53, TSC1, TSC2, TTR, VHL, CACNA1S, POT1, CDK4, CDKN2A, ACD, FLCN, FGA, FH, GSN, LYZ, MC1R, MET, MITF, MLH1, MSH2, MSH6, PMS2, B2M, BAP1, PTEN Specificity 4 % Genes 100 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel. By Invitae (United States). STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, DOCK8, CORO1A, CTPS1, NHEJ1, MAGT1 , (...) View the complete list with 29 more genes Panel complete gene list STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3D, CD3E, CD3G, CD247, CD8A, LRBA, DCLRE1C, ADA, DOCK8, CORO1A, CTPS1, NHEJ1, MAGT1, DOCK2, AK2, TAP1, TAP2, ICOS, IKBKB, IL21, IL21R, IL2RG, IL7R, ITK, JAK3, LCK, LIG4, MALT1, MAP3K14, RHOH, CIITA, PNP, B2M, PRKDC, PTPRC, RAC2, RAG1, RAG2, BCL10, RFX5, RFXANK, RFXAP Specificity 3 % 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 %
Invitae Combined Immunodeficiency (CID) Panel. By Invitae (United States). STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3G, CD8A, LRBA, DOCK8, CTPS1, MAGT1, DOCK2, TAP1, TAP2, ICOS, IKBKB, IL21, IL21R , (...) View the complete list with 12 more genes Panel complete gene list STK4, TAPBP, TNFRSF4, CD27, CD40LG, ZAP70, CARD11, CD3G, CD8A, LRBA, DOCK8, CTPS1, MAGT1, DOCK2, TAP1, TAP2, ICOS, IKBKB, IL21, IL21R, ITK, LCK, MALT1, MAP3K14, RHOH, CIITA, B2M, RAC2, BCL10, RFX5, RFXANK, RFXAP Specificity 4 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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