Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency

Description

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency

  • Pica
  • Failure to thrive
  • Hepatomegaly
  • Hypertension
  • Splenomegaly
  • Abnormality of the skeletal system
  • Diarrhea
  • Encephalopathy
  • Pneumonia
  • Recurrent respiratory infections
And another 53 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency have a estimated prevalence of 0.2 per 100k worldwide.


Mendelian

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Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency Recommended genes panels

Panel Name, Specifity and genes Tested/covered
ADA Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ADA
Specificity
100 %
Genes
100 %
ADA Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ADA
Specificity
100 %
Genes
100 %
ADA Sequence Analysis.

By Baylor Miraca Genetics Laboratories in United States.

ADA
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories in United States.

FMR1, UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2 , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories in United States.

UBE3A, ACADM, AGL, ACADVL, ALDOB, PC, USH1C, ALPL, BTD, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPT2, GNPTAB , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
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 ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

ADA, IL2RG, IL7R
Specificity
34 %
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): ADA (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

ADA
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency (SCID): ADA (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

ADA
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
5 %
Genes
100 %
ADA Sequencing.

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

ADA
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 %
ADA Deletion/duplication analysis.

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

ADA
Specificity
100 %
Genes
100 %
Tier 2: Hereditary Lymphoma and Immunodeficiency Panel.

By Genetic Services Laboratory University of Chicago in United States.

BRCA1, BRCA2, ADA, BLM, ATM, NBN, PRF1, WAS, NF1, MAGT1, DOCK8, SH2D1A, IKZF1, TNFRSF13B, FAS, FASLG, CASP10, STXBP2, ITK, PIK3CD , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
Hereditary Hemolytic Anemia Sequencing, 28 Genes.

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

ALDOA, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, SLC4A1, EPB41, SPTB, SPTA1, ANK1, EPB42, GCLC , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
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
100 %
ADA Gene Sequencing.

By GeneDx in United States.

ADA
Specificity
100 %
Genes
100 %
ADA. Complete sequencing.

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

ADA
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 %
Severe combined immunodeficiency due to ADA deficiency (sequence analysis of ADA gene).

By CGC Genetics in Portugal.

ADA
Specificity
100 %
Genes
100 %
Familial Hemophagocytic Lymphohistiocytosis (FHL) Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, NLRP3, MVK, MAGT1, BLOC1S6, LYST, MEFV, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Adenosine Deaminase Deficiency via ADA Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

ADA
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 %
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 %
Severe combined immunodeficiency due to ADA deficiency.

By Centogene AG - the Rare Disease Company in Germany.

ADA
Specificity
100 %
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 %
NGS Panel for Hereditary hemolytic anemia including membranopathies (spherocytosis, elliptocytosis, xerocytosis, stomatocytosis, pyropoikylocytosis) and enzymopathies.

By BLOODGENETICS BLOODGENETICS in Spain.

ALDOA, ABCB6, GPX1, GPI, AK1, NT5C3A, CYB5R3, HK1, PFKM, ADA, SLC2A1, G6PD, UGT1A1, PIEZO1, PKLR, PGK1, ABCG5, ABCG8, SLC4A1, GYPC , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
qCarrier Plus.

By Quantitative Genomic Medicine Laboratories, SL in Spain.

F2, F5, FMR1, MTHFR, MCCC1, MCCC2, ABCB11, ACADM, ACADS, AGL, ACADVL, ACAT1, AIPL1, ALDOB, USH1G, PC, USH1C, ARG1, HLCS, BTD , (...)

View the complete list with 280 more genes
Specificity
1 %
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 T-B-NK- Severe Combined Immunodeficiency (SCID) Panel.

By Invitae in United States.

AK2, ADA
Specificity
50 %
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 Purine Metabolism Disorders Panel.

By Invitae in United States.

ADSL, HPRT1, XDH, MOCS1, ADA, PNP, AMPD1, GPHN, MOCOS
Specificity
12 %
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 Hereditary Hemophagocytic Lymphohistiocytosis (HLH) Disorders Panel.

By Invitae in United States.

AP3B1, ADA, IL2RG, PNP, PRF1, SLC7A7, WAS, BTK, MVK, MAGT1, BLOC1S6, LYST, SH2D1A, RAB27A, UNC13D, STX11, XIAP, STXBP2, ITK, CD27 , (...)

View the complete list with 1 more genes
Specificity
5 %
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 %
Adenosine Deaminase Deficiency (ADA).

By Integrated Genetics Westborough Integrated Genetics in United States.

ADA
Specificity
100 %
Genes
100 %
Inheritest NGS, Comprehensive.

By Integrated Genetics Westborough Integrated Genetics in United States.

FMR1, ACADM, AGL, ACADVL, ACAT1, ALDOB, ALPL, HLCS, ATP7B, BCKDHA, BCKDHB, BCS1L, GAA, HBB, MMACHC, SLC37A4, HSD17B4, CPS1, CPT2, GNPTAB , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
ADA.

By Fulgent Genetics Fulgent Genetics in United States.

ADA
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 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Purine and Pyrimidine Metabolism Disorders Panel.

By Blueprint Genetics in Finland.

ADSL, HPRT1, DHODH, ATIC, XDH, NT5C3A, MOCS1, ADA, APRT, PNP, DPYD, UMOD, PRPS1, AMPD1, TPMT, REN, UMPS, GPHN, UPB1, DPYS , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Severe combined immunodeficiency due to adenosine deaminase deficiency.

By Bioarray in Spain.

ADA
Specificity
100 %
Genes
100 %
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
100 %
Baby Genes Targeted Panel.

By Baby Genes Inc. Baby Genes Inc. in United States.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, DLD, SLC25A13 , (...)

View the complete list with 70 more genes
Specificity
2 %
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 %
ADA Gene Sequencing and Deletion/Duplication Analysis.

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

ADA
Specificity
100 %
Genes
100 %
SEVERE COMBINED IMMUNODEFICIENCY (SCID) - ADENOSINE DEAMINASE DEFICIENCY (T- B- NK-).

By Laboratorio de Genetica Clinica SL in Spain.

ADA
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 %
Severe Combined Immune Deficiency due to Adenosine Deaminase Deficiency, Sequencing ADA Gene.

By Reference Laboratory Genetics in Spain.

ADA
Specificity
100 %
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 %
CEN4GEN rapid supplemental newborn genetic screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 79 more genes
Specificity
2 %
Genes
100 %
CEN4GEN rapid pan-ethnic carrier screen: Full gene sequencing panel.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

MTHFR, MCCC1, MCCC2, ACADM, ACADS, ACADVL, ACAT1, ARG1, HLCS, BTD, AUH, BCKDHA, BCKDHB, GAA, HBB, MMACHC, MTR, MTRR, CPT2, HSD17B10 , (...)

View the complete list with 84 more genes
Specificity
1 %
Genes
100 %
Severe combined immunodeficiency (SCID) due to adenosine deaminase deficiency (ADAD): Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ADA
Specificity
100 %
Genes
100 %
Partial adenosine deaminase deficiency: Full gene sequencing (Rapid testing).

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ADA
Specificity
100 %
Genes
100 %

Alternate names

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-negative, B Cell-negative, Nk Cell-negative, Due To Adenosine Deaminase Deficiency Is also known as scid due to ada deficiency, ada-scid, scid due to ada deficiency, early-onset;ada deficiency; scid due to adenosine deaminase deficiency.


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