Chronic Granulomatous Disease

Description

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.

Clinical Features

Top most frequent phenotypes and symptoms related to Chronic Granulomatous Disease

  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Recurrent respiratory infections
  • Malabsorption
  • Sepsis
  • Otitis media
  • Eczema
  • Cutaneous photosensitivity
  • Sinusitis

And another 12 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available CHRONIC GRANULOMATOUS DISEASE have a estimated birth prevalence of 0.46 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Chronic Granulomatous Disease Is also known as chronic septic granulomatosis, cgd.

Researches and researchers

Doctors, researchs, and experts related to Chronic Granulomatous Disease extracted from public data.

Chronic Granulomatous Disease Experts map



Current Researchs and researchers

  • GRENOBLE — Dr Marie José STASIA

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory - Quality manager

    • Institution/s:
      — Département de Biochimie, Toxicologie et Pharmacologie, CHU de Grenoble et des Alpes - Institut de biologie et de pathologie
    • Research area/topic::

      USIDNET: modelization of X+CGD chronic granulomatous disease and Nox2 super oxidase mutants in the PLB-985 cell line to study the NADPH oxidase activation process


  • GRENOBLE — Dr Marie-Hélène PACLET

    Investigator of research project

    • Institution/s:
      — CHU de Grenoble site Nord - Hôpital Albert Michallon
    • Research area/topic::

      Validation of a new concept of cell therapy by transfer of proteins in enzymopathies: application to the Chronic septic granulomatosis


  • DRESDEN — Pr Angela RÖSEN-WOLFF

    Investigator of research project - Director of department

    • Institution/s:
      — Kinder- und Frauenzentrum, Universitätsklinikum Carl Gustav Carus an der TU Dresden
    • Research area/topic::

      Identification and characterization of phagocyte defects


  • FRANKFURT AM MAIN — Pr Harald VON MELCHNER

    Investigator of research project - Director of laboratory - Director of department

    • Institution/s:
      — Klinikum der Johann Wolfgang Goethe-Universität Frankfurt
    • Research area/topic::

      Employing gene trapping for the correction of the Gp91phox (Nox2) mutation in chronic granulomatous disease (X-CGD)


  • MILANO — Pr Alessandro AIUTI

    Responsible for diagnostic tests - Principal investigator of clinical trial - Investigator of research project - Coordinator of research network

    • Institution/s:
      — Istituto San Raffaele Telethon per la Terapia Genica - TIGET
    • Research area/topic::

      Gene therapy for Chronic Granulomatous Disease


  • MILANO — Dr Barbara CASSANI

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Dipartimento dei Servizi Diagnostici, Azienda Ospedaliera "San Paolo" - Università degli Studi di Milano
    • Research area/topic::

      X-linked Chronic Granulomatosis: molecular and cellular mechanisms underlying intestinal inflammation


  • STOCKHOLM — Pr Bengt FADEEL

    Investigator of research project

    • Institution/s:
      — Karolinska Institutet - Solna
    • Research area/topic::

      Programmed cell clearance: molecular mechanisms and role in pathogenesis and treatment of chronic inflammation



Mendelian

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Chronic Granulomatous Disease Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Chronic Granulomatous Disease - NCF4 Sequencing.

By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado (United States).

NCF4
Specificity
100 %
Genes
20 %
Chronic granulomatous disease (sequence analysis of NCF4 gene).

By CGC Genetics (Portugal).

NCF4
Specificity
100 %
Genes
20 %
Chronic Granulomatous Disease via NCF4 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

NCF4
Specificity
100 %
Genes
20 %
Chronic Granulomatous Disease Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CYBA, CYBB, NCF2, NCF4
Specificity
100 %
Genes
80 %
Chronic granulomatous disease panel.

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

CYBA, CYBB, NCF1, NCF2, NCF4
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
9 %
Genes
100 %
Chronic granulomatous disease, autosomal recessive (CGD).

By Department of Clinical Immunology Odense University Hospital (Denmark).

CYBA, NCF1, NCF2, NCF4
Specificity
100 %
Genes
80 %
Invitae Monogenic Autoimmunity Panel.

By Invitae (United States).

RMRP, SH2D1A, SLC7A7, BTK, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TREX1, ACP5, UNG , (...)

View the complete list with 53 more genes
Specificity
6 %
Genes
80 %

We have 61 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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