Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3

Description

Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD ).

Genes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3

NCF4

Clinical Features

Phenotypes and symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3

Fever
Diarrhea
Skin rash
Eczema
Sinusitis
Colitis
Recurrent sinusitis
Recurrent aphthous stomatitis
Perioral eczema
Perianal rash

Incidence and onset information

— Not enough data available about incidence and published cases.

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Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chronic Granulomatous Disease - NCF4 Sequencing. By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado in United States. NCF4 Specificity 100 % Genes 100 %
Chronic granulomatous disease (sequence analysis of NCF4 gene). By CGC Genetics in Portugal. NCF4 Specificity 100 % Genes 100 %
Chronic Granulomatous Disease via the NCF4 Gene. By PreventionGenetics PreventionGenetics in United States. NCF4 Specificity 100 % Genes 100 %
Chronic Granulomatous Disease Sequencing Panel with CNV Detection. By PreventionGenetics PreventionGenetics in United States. CYBA, CYBB, NCF2, NCF4 Specificity 25 % Genes 100 %
Chronic granulomatous disease panel. By Centogene AG - the Rare Disease Company in Germany. CYBA, CYBB, NCF2, NCF4, NCF1 Specificity 20 % Genes 100 %
Defects of phagocytosis Panel. By CeGaT GmbH in Germany. HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB , (...) View the complete list with 39 more genes Panel GTR000528902 complete gene list HFE, STAT1, SLC37A4, DTNBP1, HPS1, BLOC1S3, HPS6, HPS5, HPS4, HPS3, HAX1, AP3B1, TAZ, TCN2, SLC35C1, TCIRG1, CYBA, GATA2, SBDS, CYBB, WAS, DNM2, VPS13B, ACTB, GATA1, CTSC, TERT, CSF2RA, NCF2, NCF4, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, MLPH, CSF3R, IFNGR1, IFNGR2, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, WIPF1, IL12RB1, JAGN1, IL12B, ISG15, NCF1, ITGB2, CEBPE, IRF8, ACKR1, MPO, FCGR3B, FPR1 Specificity 2 % Genes 100 %
Chronic granulomatous disease, autosomal recessive (CGD). By Department of Clinical Immunology Odense University Hospital in Denmark. CYBA, NCF2, NCF4, NCF1 Specificity 25 % Genes 100 %
Invitae Monogenic Autoimmunity Panel. By Invitae in United States. STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1 , (...) View the complete list with 53 more genes Panel GTR000553746 complete gene list STAT1, CASP8, AP3B1, UNG, CYBA, STAT3, PNP, AIRE, RMRP, PRF1, CYBB, SLC7A7, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, TBX1, FOXP3, BLOC1S6, LYST, DOCK8, IFIH1, ADAR, SH2D1A, NCF2, NCF4, RAB27A, STIM1, TNFRSF13B, AICDA, CD40LG, UNC13D, FAS, STX11, XIAP, FASLG, CASP10, STXBP2, RAC2, STAT5B, ORAI1, PIK3CD, LRBA, NFKBIA, FADD, CD27, RFX5, RFXANK, RFXAP, NFKB2, CTLA4, IL10RA, PIK3R1, TPP2, CR2, ICOS, IL10RB, TNFRSF13C, ADA2, PRKCD, TMEM173, IL2RA, IL10, ACP5, PLCG2, IL21, IL21R, ITCH, TNFSF12, NFAT5 Specificity 2 % 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 Panel GTR000553775 complete gene list STAT1, SLC37A4, CYBA, STAT3, ADA, IL2RG, CYBB, DCLRE1C, RTEL1, WAS, BTK, MVK, FOXP3, DKC1, DOCK8, MEFV, SH2D1A, NCF2, NCF4, STIM1, AICDA, CD40LG, RAG2, RAG1, ZAP70, XIAP, STXBP2, G6PC3, LIG4, PIK3CD, LRBA, CTLA4, IL10RA, NLRC4, TTC7A, PIK3R1, ICOS, IL10RB, IL2RA, IL10, PLCG2, ITGB2, IL21, CD3G, ADAM17, NFAT5 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 Panel GTR000553783 complete gene list PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CHD7, RMRP, TINF2, ATM, NBN, GATA2, PRF1, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, VPS13B, ACTB, NLRP3, SEMA3E, MVK, FOXP3, MAGT1, DKC1, CTSC, BLOC1S6, LYST, TBK1, TERC, TERT, PARN, DOCK8, CSF2RA, PSMB8, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, SH3BP2, CTC1, NHP2, NOP10, NOD2, SLC29A3, FERMT3, RAB27A, STIM1, MYD88, CSF3R, TNFRSF13B, AICDA, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, IL17F, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, TPP2, ACD, CARD9, CR2, ICOS, IL10RB, PRKDC, TNFRSF13C, TYK2, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, UNC93B1, TRAF3, TICAM1, NLRP12, TMEM173, CARD11, IL2RA, DNMT3B, CLPB, TRNT1, SPINK5, IL36RN, CARD14, IL1RN, IL10, ACP5, RBCK1, PLCG2, B2M, BLNK, CD79A, IGLL1, CD79B, ITGB2, TMC6, TMC8, CEBPE, COPA, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, CD3G, CORO1A, STAT2, ITCH, CD8A, CD247, IRF8, BCL10, ADAM17, ZBTB24, CTPS1, LCK, IKBKB, TNFSF12, SP110, FPR1, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, NFAT5, MAP3K14, DOCK2, DCLRE1B, RORC, IRF7 Specificity 1 % Genes 100 %
Invitae Phagocyte Defects Panel. By Invitae in United States. SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1 , (...) View the complete list with 7 more genes Panel GTR000553795 complete gene list SLC37A4, HAX1, TAZ, SLC35C1, CYBA, PMM2, G6PD, CYBB, WAS, VPS13B, CTSC, CSF2RA, NCF2, NCF4, FERMT3, CSF3R, ELANE, G6PC3, VPS45, GFI1, LAMTOR2, JAGN1, CLPB, SPINK5, ITGB2, CEBPE, FPR1 Specificity 4 % Genes 100 %
Early Onset Inflammatory Bowel Disease: Sequencing Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...) View the complete list with 6 more genes Panel GTR000512417 complete gene list PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP, STXBP2, LRBA, IL10RA, TTC37, ICOS, IL2RA Specificity 4 % Genes 100 %
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel. By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States. PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP , (...) View the complete list with 6 more genes Panel GTR000558821 complete gene list PTEN, RET, SLC37A4, HPS1, HPS6, HPS4, CYBA, CYBB, DCLRE1C, WAS, BTK, MVK, FOXP3, MEFV, SH2D1A, NCF2, NCF4, AICDA, CD40LG, XIAP, STXBP2, LRBA, IL10RA, TTC37, ICOS, IL2RA Specificity 4 % Genes 100 %
NCF4. By Fulgent Genetics Fulgent Genetics in United States. NCF4 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 Panel GTR000552725 complete gene list PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE, CFTR, BLM, CHD7, KRAS, NRAS, RMRP, TINF2, ATM, MRE11, NBN, GATA2, SBDS, PRF1, G6PD, CYBB, DCLRE1C, SLC7A7, RTEL1, WAS, BTK, PIGA, SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, OFD1, TREX1, VPS13B, TBX1, ACTB, NLRP3, MVK, FOXP3, MAGT1, DKC1, CTSC, UNC119, LYST, TERC, TERT, PARN, DOCK8, CSF2RA, CSF2RB, PSMB8, HELLS, IFIH1, ADAR, MEFV, SH2D1A, NCF2, NCF4, JAK3, CFB, CFI, CFH, CD46, C3, THBD, CTC1, WRAP53, NHP2, NOP10, C1S, NOD2, DGKE, SLC29A3, MASP1, SRP72, USB1, SLC46A1, FERMT3, MYO5A, RAB27A, STIM1, MYD88, IKZF1, CSF3R, TNFRSF13B, AICDA, CD40, CD40LG, IFNGR1, IFNGR2, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, POLE, UNC13D, FAS, STX11, ELANE, XIAP, FASLG, CASP10, STXBP2, ITK, G6PC3, VPS45, GFI1, LAMTOR2, RAC2, CXCR4, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1, LPIN2, PIK3CD, IRAK4, LRBA, NFKBIA, FADD, CD27, WIPF1, CIITA, IL12RB1, RFX5, RFXANK, RFXAP, STK4, TNFRSF1A, NFKB2, CTLA4, EPG5, IL10RA, JAGN1, NLRC4, SMARCAL1, TTC7A, PIK3R1, ACD, CARD9, CD19, CR2, CD81, ICOS, IL10RB, PRKDC, TYK2, CFD, ADA2, IL12B, ISG15, PRKCD, PSTPIP1, PGM3, DNAJC21, C2, UNC93B1, NLRP12, TMEM173, CARD11, SAMD9, SAMD9L, IL2RA, DNMT3B, RNU4ATAC, USP18, CLPB, RNF168, TRNT1, SERPING1, SPINK5, IL36RN, CARD14, NLRP1, TNFAIP3, NCSTN, PSENEN, IL1RN, DDX58, IL10, RNF31, C1QC, ACP5, C1QA, RBCK1, C1QB, PLCG2, BLNK, CD79A, IGLL1, CD79B, NCF1, ITGB2, PEPD, CFP, TMC6, TMC8, COLEC11, CEBPE, COPA, NFKB1, IL21, IL21R, MALT1, TRAF3IP2, IL17RA, TCF3, CD3G, CORO1A, CD70, WDR1, SMARCD2, EXTL3, STAT2, MTHFD1, CD8A, CD247, IRF8, BCL10, ADAM17, CD59, ZBTB24, ERCC6L2, CTPS1, LCK, IKBKB, RPSA, SP110, RHOH, TNFRSF4, TAP2, TAPBP, IL17RC, MAP3K14, DOCK2, DCLRE1B, RORC, CD55, IFNAR2, NSMCE3, CDCA7, GINS1, MSN, MRTFA, LAT, BACH2, ARPC1B, JAK1, HYOU1, POLE2, TFRC, ZNF341, CARMIL2, RASGRP1, IRF2BP2, OTULIN, BCL11B Specificity 1 % Genes 100 %
Chronic Granulomatous Disease Panel. By Blueprint Genetics in Finland. CYBA, G6PD, CYBB, NCF2, NCF4, NOD2, NCF1 Specificity 15 % Genes 100 %
Chronic Granulomatous Disease NGS and Deletion/Duplication Panel. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. CYBA, CYBB, NCF2, NCF4, NCF1 Specificity 20 % Genes 100 %
NCF4 Gene Sequencing and Deletion/Duplication Analysis. By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States. NCF4 Specificity 100 % Genes 100 %
Chronic Granulomatous Disease, Panel Deletions-Duplications (MLPA) CYBA, CYBB, NCF2, NCF4 Genes. By Reference Laboratory Genetics in Spain. CYBA, CYBB, NCF2, NCF4 Specificity 25 % Genes 100 %
Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes. By Reference Laboratory Genetics in Spain. CYBA, CYBB, NCF2, NCF4, NCF1 Specificity 20 % 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 Panel GTR000559806 complete gene list TGFB1, CYBA, IL2RG, IKBKG, TINF2, CYBB, WAS, GATA3, FOXP1, FOXP3, DKC1, ABCB1, TERC, TERT, SH2D1A, NCF2, NCF4, WRAP53, NOD2, CD40LG, XIAP, STXBP2, WIPF1, CTLA4, IL10RA, IL17F, CARD9, ICOS, IL10RB, IL2RA, IL10, PLCG2, NCF1, MYO5B, GUCY2C, IL21, IL21R, IL17RA, IL6, ADAM17, ATG16L1, FUT2, IL23R, IRGM, PTGER4 Specificity 3 % Genes 100 %

Alternate names

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type Iii; Cdg3 Is also known as cgd, autosomal recessive cytochrome b-positive, type iii, granulomatous disease, chronic, due to ncf4 deficiency.

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