Chronic granulomatous disease (CGD) [8 genes]

Chronic granulomatous disease (CGD) is a disorder of neutrophils, where impaired NADPH oxidase activity is caused by a defect in one of the five protein subunits of the NADPH oxidase complex, resulting in failure to kill certain bacteria and fungi. The proteins of the NADPH oxidase complex are encoded by genes CYBB, CYBA, NCF1, NCF2, and NCF4. Genetic counselling and specific prognosis are possible after the detection of the disease-causing mutation.

  • Disseminated, recurrent infections
  • Colitis
  • Onset: childhood to adulthood

1:250,000

  • Differential diagnosis and genetic counseling
  • Hematopoietic stem cell transplantation (HSCT)
  • Gene therapy
  • Prophylaxis with antibacterials and/or antifungals

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2. Sample collection

Three sample types: saliva, peripheral blood or genomic DNA

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5. Result: the report

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Chronic granulomatous disease (CGD)

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110288

Chronic granulomatous disease (CGD): View panel
  • C17orf62
  • CYBA
  • CYBB
  • NCF1
  • NCF2
  • NCF4
  • NOD2
  • RELA

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Âhlin A, Fasth A. Chronic granulomatous disease – conventional treatment vs. hematopoietic stem cell transplantation. Curr Opin Hematol. 2015;22(1):41-45. doi:10.1097/MOH.0000000000000097
  2. Arnold DE, Heimall JR. A Review of Chronic Granulomatous Disease. Adv Ther. 2017;34(12):2543-2557. doi:10.1007/s12325-017-0636-2
  3. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  4. Richardson AM, Moyer AM, Hasadsri L, Abraham RS. Diagnostic Tools for Inborn Errors of Human Immunity (Inmunodeficiencias primarias and Immune Dysregulatory Diseases). Curr Allergy Asthma Rep. 2018;18(3):19. doi:10.1007/s11882-018-0770-1
  5. Seger RA. Advances in the diagnosis and treatment of chronic granulomatous disease. Curr Opin Hematol. 2011;18(1):36-41. doi:10.1097/MOH.0b013e32834115e7