Combined Cellular And Humoral Immune Defects With Granulomas; Cchidg

Clinical Features

Top most frequent phenotypes and symptoms related to Combined Cellular And Humoral Immune Defects With Granulomas; Cchidg

  • Nevus
  • Splenomegaly
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Decreased antibody level in blood
  • Lymphoma
  • Sinusitis
  • Lymphopenia
  • Combined immunodeficiency
  • IgG deficiency
And another 7 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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Combined Cellular And Humoral Immune Defects With Granulomas; Cchidg Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Eight-gene Profile (IL2RG, JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

ADA, IL2RG, JAK3, CD3E, CD3D, IL7R, RAG2, RAG1
Specificity
25 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Nine-gene Profile (IL2RG), JAK3, RAG1, RAG2, IL7R, ADA, CD3D, CD3E, DCLREC1C [Artemis]) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

ADA, IL2RG, DCLRE1C, JAK3, CD3E, CD3D, IL7R, RAG2, RAG1
Specificity
23 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, DCLRE1C (Artemis) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

DCLRE1C, RAG2, RAG1
Specificity
67 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG2 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG2
Specificity
100 %
Genes
50 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG2 (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG2
Specificity
100 %
Genes
50 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): Two-gene Profile (RAG1, RAG2) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG2, RAG1
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

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

ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
10 %
Genes
100 %
RAG2 Sequencing.

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

RAG2
Specificity
100 %
Genes
50 %
Severe Combined Immunodeficiency and T Cell Disorders Deletion/Duplication Panel.

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

ADA, IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
11 %
Genes
100 %
RAG2 Deletion/duplication analysis.

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

RAG2
Specificity
100 %
Genes
50 %
Primary Antibody Deficiency Panel, Sequencing (35 Genes) and Deletion/Duplication (26 Genes).

By ARUP Laboratories, Molecular Genetics and Genomics in United States.

UNG, ADA, IKBKG, ATM, MRE11, NBN, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, XIAP, PTPRC, PIK3CD, LRBA, NFKBIA, NFKB2, PIK3R1 , (...)

View the complete list with 15 more genes
Specificity
3 %
Genes
50 %
RAG2. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RAG2
Specificity
100 %
Genes
50 %
Severe combined immunodeficiency Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
12 %
Genes
100 %
Severe combined immunodeficency Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
12 %
Genes
100 %
Severe combined immunodeficiency Del/dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia in United States.

ADA, IL2RG, PNP, CHD7, IKBKG, ATM, DCLRE1C, WAS, TBX1, DOCK8, JAK3, IL7R, RAG2, RAG1, NHEJ1, LIG4, FOXN1, PRKDC
Specificity
12 %
Genes
100 %
Hemophagocytic lymphohistiocytosis and reticuloendotheliosis with eosinophilia, familial (NGS panel for 7 genes).

By CGC Genetics in Portugal.

PRF1, DCLRE1C, RAG2, RAG1, UNC13D, STX11, STXBP2
Specificity
29 %
Genes
100 %
Combined cellular and humoral immune defects with granulomas (sequence analysis of RAG2 gene).

By CGC Genetics in Portugal.

RAG2
Specificity
100 %
Genes
50 %
Severe Combined Immunodeficiency/Omenn Syndrome via the RAG2 Gene.

By PreventionGenetics PreventionGenetics in United States.

RAG2
Specificity
100 %
Genes
50 %
Omenn Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DCLRE1C, IL7R, RAG2, RAG1
Specificity
50 %
Genes
100 %
RAG1/RAG2 gene.

By Immunology Diagnostics Laboratory Seattle Children's Research Institute in United States.

RAG2, RAG1
Specificity
100 %
Genes
100 %
RAG2.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RAG2
Specificity
100 %
Genes
50 %
Severe combined immunodeficiency (SCID) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

AK2, ADA, IL2RG, PNP, DCLRE1C, TBX1, DOCK8, JAK3, STIM1, CD40, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, STAT5B , (...)

View the complete list with 7 more genes
Specificity
8 %
Genes
100 %
Comprehensive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

AK2, ADA, IL2RG, PNP, RMRP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC , (...)

View the complete list with 3 more genes
Specificity
9 %
Genes
100 %
CentoICU platinum plus.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
CentoICU platinum.

By Centogene AG - the Rare Disease Company in Germany.

BRCA2, F2, F5, MTHFR, UBE3A, MCCC1, MCCC2, AARS2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2 , (...)

View the complete list with 494 more genes
Specificity
1 %
Genes
100 %
Omenn syndrome.

By Centogene AG - the Rare Disease Company in Germany.

RAG2
Specificity
100 %
Genes
50 %
B-negative SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

AK2, ADA, DCLRE1C, RAG2, RAG1, RAC2, NHEJ1, LIG4
Specificity
25 %
Genes
100 %
Combined immunodeficiencies Panel.

By CeGaT GmbH in Germany.

TAP1, AK2, ADA, IL2RG, PNP, CHD7, RMRP, DCLRE1C, TBX1, SEMA3E, MAGT1, UNC119, DOCK8, JAK3, THBD, STIM1, CD40, CD40LG, CD3E, CD3D , (...)

View the complete list with 40 more genes
Specificity
4 %
Genes
100 %
Severe immunodeficiency, autosomal recessive, T-cell negative, B-cell negative, NK cell-positive.

By Department of Clinical Immunology Odense University Hospital in Denmark.

RAG2, RAG1
Specificity
100 %
Genes
100 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

AK2, ADA, IL2RG, PNP, DCLRE1C, JAK3, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, LIG4, PTPRC, PRKDC, CORO1A, CD247
Specificity
12 %
Genes
100 %
Invitae Comprehensive Severe Combined Immunodeficiency (SCID) and Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

TAP1, AK2, ADA, IL2RG, PNP, DCLRE1C, MAGT1, DOCK8, JAK3, CD40LG, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, ITK, RAC2, NHEJ1, LIG4 , (...)

View the complete list with 29 more genes
Specificity
5 %
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
5 %
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 T-B-NK+ Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

DCLRE1C, RAG2, RAG1, NHEJ1, LIG4, PRKDC
Specificity
34 %
Genes
100 %
Severe Combined Immunodeficiency (SCID) B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ADA, PNP, DCLRE1C, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, PTPRC
Specificity
20 %
Genes
100 %
Severe Combined Immunodeficiency (SCID) B+/B-: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

ADA, IL2RG, PNP, DCLRE1C, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, RAC2, NHEJ1, LIG4, STAT5B, PTPRC, ORAI1, FOXN1 , (...)

View the complete list with 1 more genes
Specificity
10 %
Genes
100 %
RAG2.

By Fulgent Genetics Fulgent Genetics in United States.

RAG2
Specificity
100 %
Genes
50 %
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 %
Severe Combined Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, STAT1, TAP1, AK2, STAT3, ADA, IL2RG, PNP, BLM, RMRP, ATM, DCLRE1C, RTEL1, WAS, TBX1, MAGT1, UNC119, PARN, DOCK8, SH2D1A , (...)

View the complete list with 59 more genes
Specificity
3 %
Genes
100 %
Omenn syndrome.

By Bioarray in Spain.

RAG2
Specificity
100 %
Genes
50 %
CarrierMap.

By Recombine in United States.

FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOB, PC, USH1C, ALPL, ARG1, HLCS, ATP7A, BTD, ATP7B, BCKDHA , (...)

View the complete list with 281 more genes
Specificity
1 %
Genes
50 %
Severe Combined Immunodeficiency NGS and Deletion/Duplication Panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

ADA, IL2RG, DCLRE1C, JAK3, CD3E, CD3D, IL7R, RAG2, RAG1
Specificity
23 %
Genes
100 %
RAG2 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

RAG2
Specificity
100 %
Genes
50 %
SEVERE COMBINED IMMUNODEFICIENCY (SCID): NGS PANEL.

By Laboratorio de Genetica Clinica SL in Spain.

STAT1, AK2, ADA, IL2RG, RMRP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, PTPRC, ORAI1, FOXN1, PRKDC, CARD11, CORO1A , (...)

View the complete list with 2 more genes
Specificity
10 %
Genes
100 %
Omenn Syndrome, Sequencing RAG2 Gene.

By Reference Laboratory Genetics in Spain.

RAG2
Specificity
100 %
Genes
50 %
Common Variable Immune Deficiency and Related Disorders, Panel Massive Sequencing (NGS) 41 Genes.

By Reference Laboratory Genetics in Spain.

STAT1, TGFB1, STAT3, IKBKG, GATA2, DCLRE1C, BTK, SH2D1A, TNFRSF13B, AICDA, CD40, CD40LG, RAG2, RAG1, AKT1, CXCR4, PIK3CD, NFKBIA, CTLA4, IL17F , (...)

View the complete list with 21 more genes
Specificity
5 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis , Panel Massive Sequencing (NGS) 16 Genes.

By Reference Laboratory Genetics in Spain.

AP3B1, PRF1, SLC7A7, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, RAG2, RAG1, UNC13D, STX11, XIAP, STXBP2, ITK, CD27
Specificity
13 %
Genes
100 %
Severe Combined Immune Deficiency (SCID) , Panel Massive Sequencing (NGS) 18 Genes.

By Reference Laboratory Genetics in Spain.

AK2, ADA, IL2RG, PNP, DCLRE1C, JAK3, STIM1, CD3E, CD3D, IL7R, RAG2, RAG1, ZAP70, NHEJ1, STAT5B, PTPRC, ORAI1, FOXN1
Specificity
12 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG1
Specificity
100 %
Genes
50 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1 (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG1
Specificity
100 %
Genes
50 %
RAG1 Sequencing.

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

RAG1
Specificity
100 %
Genes
50 %
RAG1 Deletion/duplication analysis.

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

RAG1
Specificity
100 %
Genes
50 %
RAG1. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

RAG1
Specificity
100 %
Genes
50 %
Omenn Syndrome (sequence analysis of RAG1 and RAG2 genes).

By CGC Genetics in Portugal.

RAG1
Specificity
100 %
Genes
50 %
Severe Combined Immunodeficiency/Omenn Syndrome via RAG1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAG1
Specificity
100 %
Genes
50 %
RAG1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RAG1
Specificity
100 %
Genes
50 %
Severe combined immunodeficiency, B cell-negative.

By Centogene AG - the Rare Disease Company in Germany.

RAG1
Specificity
100 %
Genes
50 %
RAG1.

By Fulgent Genetics Fulgent Genetics in United States.

RAG1
Specificity
100 %
Genes
50 %
Omenn syndrome.

By Bioarray in Spain.

RAG1
Specificity
100 %
Genes
50 %
RAG1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

RAG1
Specificity
100 %
Genes
50 %
Omenn Syndrome, Sequencing RAG1 Gene.

By Reference Laboratory Genetics in Spain.

RAG1
Specificity
100 %
Genes
50 %
Omenn syndrome.

By Labor Dr. Wisplinghoff in Germany.

RAG1
Specificity
100 %
Genes
50 %

Alternate names

Combined Cellular And Humoral Immune Defects With Granulomas; Cchidg Is also known as ;cid due to rag 1/2 deficiency; combined immunodeficiency due to rag 1/2 deficiency.



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