Immunodeficiency 19; Imd19

Description

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 19; Imd19

  • Failure to thrive
  • Fever
  • Respiratory distress
  • Diarrhea
  • Immunodeficiency
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Tachycardia
  • Hepatic failure
  • Hepatitis

And another 6 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 19; Imd19 Is also known as scid, t cell-negative, b cell-positive, nk cell-positive, cd3-delta deficiency, severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive.

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 19; Imd19 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): CD3D (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD3D
Specificity
100 %
Genes
100 %
Severe Combined Immunodeficiency (SCID): CD3D (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

CD3D
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 %
CD3D Sequencing.

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

CD3D
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 23 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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