Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation

  • Failure to thrive
  • Fever
  • Abnormality of the skeletal system
  • Diarrhea
  • Immunodeficiency
  • Pneumonia
  • Respiratory tract infection
  • Cirrhosis
  • Lymphoma
  • Decreased antibody level in blood

And another 15 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Is also known as rs-scid, scid, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive, with sensitivity to ionizing radiation.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Recommended genes panels

Panel Name, Specifity and genes Tested/covered
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

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

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS-SCID or SCIDA (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

DCLRE1C
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): DCLRE1C (Artemis) for RS-SCID or SCIDA (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

DCLRE1C
Specificity
100 %
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 University of Alberta (Canada).

CD3D, CD3E, DCLRE1C, ADA, IL2RG, IL7R, JAK3, RAG1, RAG2
Specificity
12 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome): RAG1, RAG2, DCLRE1C (Artemis) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

DCLRE1C, RAG1, RAG2
Specificity
34 %
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 (United States).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, DCLRE1C, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
5 %
Genes
100 %
DCLRE1C (Artemis) Sequencing.

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

DCLRE1C
Specificity
100 %
Genes
100 %

You can get up to 40 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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