Immunodeficiency 27a; Imd27a

Description

Immunodeficiency-27A results from autosomal recessive (AR) IFNGR1 deficiency. Patients with complete IFNGR1 deficiency have a severe clinical phenotype characterized by early and often fatal mycobacterial infections. bacillus Calmette-Guerin (BCG) and environmental mycobacteria are the most frequent pathogens, and infection typically begins before the age of 3 years. Plasma from patients with complete AR IFNGR1 deficiency usually contains large amounts of IFNG (OMIM ), and their cells do not respond to IFNG in vitro. In contrast, cells from patients with partial AR IFNGR1 deficiency, which is caused by a specific mutation in IFNGR1, retain residual responses to high IFNG concentrations. Patients with partial AR IFNGR1 deficiency are susceptible to BCG and environmental mycobacteria, but they have a milder clinical disease and better prognosis than patients with complete AR IFNGR1 deficiency. The clinical features of children with complete AR IFNGR1 deficiency are usually more severe than those in individuals with AD IFNGR1 deficiency (IMD27B), and mycobacterial infection often occurs earlier (mean age of 1.3 years vs 13.4 years), with patients having shorter mean disease-free survival. Salmonellosis is present in about 5% of patients with AR or AD IFNGR1 deficiency, and other infections have been reported in single patients (review by Al-Muhsen and Casanova, 2008).

Clinical Features

Top most frequent phenotypes and symptoms related to Immunodeficiency 27a; Imd27a

  • Anemia
  • Fever
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia
  • Weight loss
  • Hepatosplenomegaly
  • Lymphadenopathy
  • Anorexia

And another 16 symptoms. If you need more information about this disease we can help you.

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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 27a; Imd27a Is also known as ifngr1 deficiency, autosomal recessive, immunodeficiency 27a, mycobacteriosis, autosomal recessive.

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 27a; Imd27a Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Interferon-gamma Receptor Deficiency: IFNGR1 (Full Gene Sequencing).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR1
Specificity
100 %
Genes
100 %
Interferon-gamma Receptor Deficiency: IFNGR1 (Known Mutation).

By Molecular Diagnostic Laboratory University of Alberta (Canada).

IFNGR1
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 %
IFNGR1 Sequencing.

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

IFNGR1
Specificity
100 %
Genes
100 %
IFNGR1 Deletion/duplication analysis.

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

IFNGR1
Specificity
100 %
Genes
100 %
Immunodeficiency 27A, mycobacteriosis AR (sequence analysis of IFNGR1 gene).

By CGC Genetics (Portugal).

IFNGR1
Specificity
100 %
Genes
100 %
Mycobacterial infection, atypical, familial disseminated.

By Centogene AG - the Rare Disease Company (Germany).

IFNGR1
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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