Alpha/beta T-cell Lymphopenia With Gamma/delta T-cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity

Description

Combined immunodeficiency due to partial RAG1 deficiency is a form of combined T and B cell immunodeficiency (CID; see this term) characterized by severe and persistent cytomegalovirus (CMV) infection and autoimmune cytopenia.

Clinical Features

Top most frequent phenotypes and symptoms related to Alpha/beta T-cell Lymphopenia With Gamma/delta T-cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity

  • Anemia
  • Splenomegaly
  • Immunodeficiency
  • Autoimmunity
  • Sepsis
  • Autoimmune hemolytic anemia
  • Severe combined immunodeficiency
  • Decrease in T cell count
  • B lymphocytopenia
  • Interstitial pneumonitis
And another 1 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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Alpha/beta T-cell Lymphopenia With Gamma/delta T-cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity 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
13 %
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
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
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1 (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

RAG1
Specificity
100 %
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
34 %
Genes
100 %
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
50 %
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
5 %
Genes
100 %
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
100 %
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
6 %
Genes
100 %
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
100 %
RAG1. Complete sequencing.

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

RAG1
Specificity
100 %
Genes
100 %
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
6 %
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
6 %
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
6 %
Genes
100 %
Omenn Syndrome (sequence analysis of RAG1 and RAG2 genes).

By CGC Genetics in Portugal.

RAG1
Specificity
100 %
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
15 %
Genes
100 %
Severe Combined Immunodeficiency/Omenn Syndrome via RAG1 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RAG1
Specificity
100 %
Genes
100 %
Omenn Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

DCLRE1C, IL7R, RAG2, RAG1
Specificity
25 %
Genes
100 %
RAG1/RAG2 gene.

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

RAG2, RAG1
Specificity
50 %
Genes
100 %
RAG1.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

RAG1
Specificity
100 %
Genes
100 %
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
4 %
Genes
100 %
Severe combined immunodeficiency, B cell-negative.

By Centogene AG - the Rare Disease Company in Germany.

RAG1
Specificity
100 %
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
5 %
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 %
B-negative SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

AK2, ADA, DCLRE1C, RAG2, RAG1, RAC2, NHEJ1, LIG4
Specificity
13 %
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
2 %
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
50 %
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
6 %
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
3 %
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
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
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
17 %
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
10 %
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
5 %
Genes
100 %
RAG1.

By Fulgent Genetics Fulgent Genetics in United States.

RAG1
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 %
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
2 %
Genes
100 %
Omenn syndrome.

By Bioarray in Spain.

RAG1
Specificity
100 %
Genes
100 %
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
12 %
Genes
100 %
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
100 %
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
5 %
Genes
100 %
Omenn Syndrome, Sequencing RAG1 Gene.

By Reference Laboratory Genetics in Spain.

RAG1
Specificity
100 %
Genes
100 %
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
3 %
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
7 %
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
6 %
Genes
100 %
Omenn syndrome.

By Labor Dr. Wisplinghoff in Germany.

RAG1
Specificity
100 %
Genes
100 %

Alternate names

Alpha/beta T-cell Lymphopenia With Gamma/delta T-cell Expansion, Severe Cytomegalovirus Infection, And Autoimmunity Is also known as ;cid due to partial rag1 deficiency; cid with expansion of gamma delta t cells; combined immunodeficiency with expansion of gamma delta t cells.



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