Immunodeficiency 28; Imd28

Description

IMD28 is caused by autosomal recessive (AR) IFNGR2 deficiency, a rare molecular cause of susceptibility to mycobacterial disease. The clinical presentation of complete AR IFNGR2 deficiency resembles that of complete IFNGR1 deficiency (IMD27A ). The disease manifests early in life, with severe, often fatal, infection. The most commonly encountered pathogens include M. bovis bacillus Calmette-Guerin (BCG), M. avium, and M. fortuitum. Complete AR IFNGR2 deficiency is characterized by an undetectable cellular response to interferon-gamma (IFNG ). There is also a rare, partial form of AR IFNGR2 deficiency, reported in 1 child, who retained a residual cellular response to IFNG and presented with a relatively mild infection by M. bovis BCG and M. abscessus (review by Al-Muhsen and Casanova, 2008).

Clinical Features

Phenotypes and symptoms related to Immunodeficiency 28; Imd28

  • Immunodeficiency
  • Recurrent mycobacterial infections

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Immunodeficiency 28; Imd28 Is also known as ifngr2 deficiency, immunodeficiency 28, mycobacteriosis.

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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Immunodeficiency 28; Imd28 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Interferon-gamma Receptor Deficiency: IFNGR2 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR2
Specificity
100 %
Genes
100 %
Interferon-gamma Receptor Deficiency: IFNGR2 (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR2
Specificity
100 %
Genes
100 %
Interferon-gamma Receptor Deficiency: Two-gene Profile (IFNGR1, IFNGR2) (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR1, IFNGR2
Specificity
50 %
Genes
100 %
IFNGR2 Sequencing.

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

IFNGR2
Specificity
100 %
Genes
100 %
IFNGR2 Deletion/duplication analysis.

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

IFNGR2
Specificity
100 %
Genes
100 %
Immunodeficiency 28, mycobacteriosis (sequence analysis of IFNGR2 gene).

By CGC Genetics (Portugal).

IFNGR2
Specificity
100 %
Genes
100 %
Defects of phagocytosis Panel.

By CeGaT GmbH (Germany).

STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Invitae Mendelian Susceptibility to Mycobacterial Disease Panel.

By Invitae (United States).

STAT1, STAT2, ACP5, TYK2, SAMHD1, IRAK4, ADAR, CYBB, ISG15, GATA2, IRF8, IFNGR1, IFNGR2, IL12B, IL12RB1, MYD88
Specificity
7 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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