Autoimmune Disease, Multisystem, Infantile-onset, 2; Admio2

Clinical Features

Phenotypes and symptoms related to Autoimmune Disease, Multisystem, Infantile-onset, 2; Admio2

  • Recurrent infections
  • Hypothyroidism
  • Proteinuria
  • Autoimmunity
  • Nephrotic syndrome
  • Lymphopenia
  • Colitis
  • B lymphocytopenia
  • Minimal change glomerulonephritis

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.

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.

Autoimmune Disease, Multisystem, Infantile-onset, 2; Admio2 Recommended genes panels

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

By Molecular Diagnostic Laboratory University of Alberta (Canada).

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

By Molecular Diagnostic Laboratory University of Alberta (Canada).

ZAP70
Specificity
100 %
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 %
ZAP70 sequencing.

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

ZAP70
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 %
ZAP70 Deletion/duplication analysis.

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

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

By CGC Genetics (Portugal).

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

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

ZAP70
Specificity
100 %
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 Genetic Syndrome Finder

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