Cd8 Deficiency, Familial

Description

Susceptibility to respiratory infections associated with CD8 alpha chain mutation is a rare primary immunodeficiency due to a defect in adaptive immunity characterized by the absence of CD8+ T cells with normal immunoglobulin and specific antibody titres in blood and susceptibility to recurrent respiratory bacterial and viral infections. Symptom severity range from fatal respiratory insufficiency to mild or asymptomatic phenotypes.

Clinical Features

Phenotypes and symptoms related to Cd8 Deficiency, Familial

  • Recurrent respiratory infections
  • Bronchiectasis
  • Recurrent bacterial infections
  • Recurrent viral infections
  • Absence of CD8-positive T cells

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Cd8 Deficiency, Familial Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Severe Combined Immunodeficiency (SCID) : ZAP70 (Known Mutation).

By Molecular Diagnostic Laboratory LabCorp in United States.

ZAP70
Specificity
100 %
Genes
50 %
Severe Combined Immunodeficiency (SCID): ZAP70 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory LabCorp in United States.

ZAP70
Specificity
100 %
Genes
50 %
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
50 %
ZAP70 sequencing.

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

ZAP70
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
6 %
Genes
50 %
ZAP70 Deletion/duplication analysis.

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

ZAP70
Specificity
100 %
Genes
50 %
Selective T-cell defect (sequence analysis of ZAP70 gene).

By CGC Genetics in Portugal.

ZAP70
Specificity
100 %
Genes
50 %
ZAP-70 Gene.

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

ZAP70
Specificity
100 %
Genes
50 %
ZAP70.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

ZAP70
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 %
B-positive SCID panel.

By Centogene AG - the Rare Disease Company in Germany.

IL2RG, PNP, RMRP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, ZAP70, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
7 %
Genes
50 %
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
50 %
Selective T-cell defect.

By Centogene AG - the Rare Disease Company in Germany.

ZAP70
Specificity
100 %
Genes
50 %
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
50 %
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
50 %
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 %
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
50 %
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
3 %
Genes
50 %
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 Combined Immunodeficiency (CID) Panel.

By Invitae in United States.

TAP1, MAGT1, DOCK8, CD40LG, ZAP70, ITK, RAC2, LRBA, CD27, CIITA, RFX5, RFXANK, RFXAP, STK4, ICOS, CARD11, B2M, IL21, IL21R, MALT1 , (...)

View the complete list with 12 more genes
Specificity
7 %
Genes
100 %
Severe Combined Immunodeficiency (SCID) B+: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

IL2RG, PNP, TBX1, JAK3, STIM1, CD3E, CD3D, IL7R, ZAP70, STAT5B, PTPRC, ORAI1, FOXN1, CD247
Specificity
8 %
Genes
50 %
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
50 %
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
50 %
ZAP70.

By Fulgent Genetics Fulgent Genetics in United States.

ZAP70
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 %
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
50 %
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
50 %
Tempus xO assay.

By Tempus Labs, Inc. in United States.

BRCA1, BRCA2, VHL, APC, EPCAM, MSH2, PMS2, MSH6, MLH1, MUTYH, PTEN, RECQL4, RUNX1, TP53, ABCB11, ABCB4, FKBP10, FOXL2, HNF1A, PPARG , (...)

View the complete list with 1693 more genes
Specificity
1 %
Genes
50 %
ZAP70-Related Combined Immunodeficiency: ZAP70 gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics in Canada.

ZAP70
Specificity
100 %
Genes
50 %
CD8A.

By Fulgent Genetics Fulgent Genetics in United States.

CD8A
Specificity
100 %
Genes
50 %
Immune Report Card.

By OmniSeq, Inc. in United States.

STAT1, TGFB1, FOXP3, CCL2, CSF1R, CD40, CD40LG, CD27, CTLA4, ICOS, MS4A1, DDX58, IL10, IFNG, IL1B, CD8A, TNFSF4, TNF, CD4, CD244 , (...)

View the complete list with 27 more genes
Specificity
3 %
Genes
50 %

Alternate names

Cd8 Deficiency, Familial Is also known as ;familial cd8 deficiency.



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