Susceptibility To Viral And Mycobacterial Infections

Description

Susceptibility to viral and mycobacterial infections is a rare, genetic, primary immunodeficiency due to a defect in innate immunity disorder characterized by impaired intracellular signaling from both type I and type II interferons, leading to early-onset, severe, life-threatening intracellular bacterial (typically mycobacteria) and viral (mainly herpes viruses) infections.

Clinical Features

Phenotypes and symptoms related to Susceptibility To Viral And Mycobacterial Infections

  • Seizures
  • Respiratory distress
  • Blindness
  • Immunodeficiency
  • Hepatosplenomegaly
  • Skin rash
  • Shock
  • Encephalitis
  • Recurrent mycobacterial infections
  • Herpes simplex encephalitis

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

Susceptibility To Viral And Mycobacterial Infections Is also known as immunodeficiency 31b, mycobacterial and viral infections, autosomal recessive, stat1 deficiency, autosomal recessive, stat1 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.


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Susceptibility To Viral And Mycobacterial Infections Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
16 %
STAT1 Sequencing.

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

STAT1
Specificity
100 %
Genes
8 %
STAT1 Deletion/duplication analysis.

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

STAT1
Specificity
100 %
Genes
8 %
Humoral dysfunction Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
8 %
Humoral dysfunction Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
8 %
Humoral dysfunction Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SH2D1A, BTK, STAT1, STAT3, CD27, CD40LG, UNG, IKZF1, AICDA, LRBA, ADA2, CR2, CTLA4, CXCR4, GATA2, ICOS, XIAP, IKBKG, IL21, IL21R , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
8 %
Immunodeficiency 31A/31B (sequence analysis of STAT1 gene).

By CGC Genetics (Portugal).

STAT1
Specificity
100 %
Genes
8 %
STAT1 Gene.

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

STAT1
Specificity
100 %
Genes
8 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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