Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Autosomal Recessive CGD (NCF-1, NCF-2, CYBA, NCF4)

  • Antonio Condino-Neto
  • Peter E. Newburger
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_149-1

Chronic Granulomatous Disease (CGD) is a primary immunodeficiency which was originally characterized in the 1950s as a clinical entity affecting male infants and termed “fatal granulomatous disease of childhood”. CGD is characterized by early onset of severe recurrent infections affecting mainly the natural barriers of the organism such as the respiratory tract and lymph nodes, and eventually internal structures such as liver, spleen, bones, and brain. The estimated incidence of this disease is approximately 1/250,000 live births per year. CGD can also present with abnormal inflammatory responses, which often result in the dysregulated granuloma formation in inflamed tissues (Arnold and Heimall 2017).

Phagocytes, such as monocytes/macrophages, contain a membrane-associated nicotinamide adenine dinucleotide phosphate – reduced form (NADPH)-oxidase that produces superoxide and other reactive oxygen intermediates involved in microbicidal, tumoricidal, and inflammatory activities. Defects...

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References

  1. Arnold DE, Heimall JR. A review of chronic granulomatous disease. Adv Ther. 2017;34(12):2543–57.  https://doi.org/10.1007/s12325-017-0636-2.CrossRefPubMedPubMedCentralGoogle Scholar
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  3. Roesler J, Curnutte JT, Rae J, Barrett D, Patino P, Chanock SJ, Goerlach A. Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. Blood. 2000;95(6):2150–6.PubMedGoogle Scholar
  4. Roos D, Tool ATJ, van Leeuwen K, de Boer M. Biochemical and genetic diagnosis of chronic granulomatous disease. In: Seger RA, Roos D, Segal BH, Kuijpers TW, editors. Immunology and immune system disorders. Chronic granulomatous disease genetics, biology and clinical management. New York: Nova Science Publishers; 2017. p. 231–300.Google Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Department of ImmunologyInstitute of Biomedical Sciences – University of São PauloSão PauloBrazil
  2. 2.Department of Pediatrics, Division of Hematology/OncologyUniversity of Massachusetts Medical SchoolWorcesterUSA

Section editors and affiliations

  • Antonio Condino-Neto
    • 1
  1. 1.Institute of Biomedical SciencesUniversity of São PauloSão PauloBrasil