Immunodeficiency 18; Imd18

Description

Immunodeficiency-18 is an autosomal recessive primary immunodeficiency characterized by onset in infancy or early childhood of recurrent infections. The severity is variable, encompassing both a mild immunodeficiency and severe combined immunodeficiency (SCID), resulting in early death without bone marrow transplantation in some patients. Immunologic work-up of the IMD18 SCID patients shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype, whereas T-cell development is not impaired in the mild form of IMD18 (summary by de Saint Basile et al., 2004).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 18; Imd18

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Otitis media
  • Recurrent otitis media
  • Lymphopenia
  • Combined immunodeficiency
  • Severe combined immunodeficiency
  • Defective T cell proliferation

And another 2 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

Immunodeficiency 18; Imd18 Is also known as cd3-epsilon deficiency.

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.

Immunodeficiency 18; Imd18 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 University of Alberta (Canada).

CD3D, CD3E, ADA, IL2RG, IL7R, JAK3, RAG1, RAG2
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 University of Alberta (Canada).

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

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD3E
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency (SCID): CD3E (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD3E
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency (SCID): Three-gene Profile (IL7R, CD3D, CD3E) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD3D, CD3E, IL7R
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 %
CD3E Sequencing.

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

CD3E
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 (United States).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
6 %
Genes
100 %

You can get up to 22 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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