Severe Combined Immunodeficiency, X-linked; Scidx1

Clinical Features

Top most frequent phenotypes and symptoms related to Severe Combined Immunodeficiency, X-linked; Scidx1

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Diarrhea
  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Skin rash
  • Decreased antibody level in blood
  • Chronic diarrhea

And another 14 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, X-linked; Scidx1 Is also known as xscid, severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative, imd4, scidx, immunodeficiency 4, scid, x-linked.

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, X-linked; Scidx1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IL2RG Familial Mutation/Variant Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IL2RG
Specificity
100 %
Genes
100 %
IL2RG Prenatal Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IL2RG
Specificity
100 %
Genes
100 %
IL2RG Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

IL2RG
Specificity
100 %
Genes
100 %
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 %
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 University of Alberta (Canada).

CD3D, CD3E, ADA, IL2RG, IL7R, JAK3, RAG1, RAG2
Specificity
13 %
Genes
100 %
Severe Combined Immunodeficiency (SCID Including Omenn Syndrome ): Three-gene Profile (IL2RG, ADA, IL7R) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

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 University of Alberta (Canada).

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

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IL2RG
Specificity
100 %
Genes
100 %

You can get up to 57 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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