Chronic Granulomatous Disease

Summarized by Plex Health
Last Updated: 02 May 2022
chronic granulomatous disease presenting as retinal mass. "chronic granulomatous disease presenting as retinal mass.", by Mansour AM, Al Dairy M, Hamam R, Hidayat AA. F3: Brother's fundus. Diffuse pigmentary loss of the paravascular retinal pigment epithelium in the left fundus of the 7-month old brother with nystagmus....

Chronic granulomatous disease is a genetic disorder in which leukocyte called phagocytes are not able to kill certain types of fungis and germs. People with CGD are highly susceptible to often dangerous and frequent bacterial and fungal infections. People with CGD can get involved in NIAID-supported professional research. CGD is a primary immune deficiency disease. CGD is triggered by issues in an enzyme, NADPH oxidase, that phagocytes need to kill particular bacteria and fungis. People with CGD are very at risk to infections triggered by specific germs and fungi, such as Staphylococcus aureus, Serratia marcescens, Burkholderia cepacia, Nocardia types, and Aspergillus types. In some people, granulomas can cause an inflammatory bowel disease similar to Crohn's Disease. In kidney, heart or enhancement troubles, diabetic issues, and autoimmune disease may occur in people with CGD, yet this differs depending on which genetics is mutated. CGD is detected by special blood tests that show exactly how well phagocytes generate hydrogen peroxide, an indicator that they are functioning correctly. Individuals with chronic granulomatous disease might have recurrent microbial and fungal infections. People with this problem may also have areas of swelling in various tissues that can result in damages to those cells. Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Seldom, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system breakdowns and attacks the body's own tissues and organs. When two service providers of an autosomal recessive condition have children, each child has a 25% risk to have the problem, a 50% risk to be a service provider like each of the parents, and a 25% chance to not have the condition and not be a carrier. When chronic granulomatous disease is caused by mutations in the CYBB genetics, the condition is inherited in an X-linked recessive pattern. The CYBB genetics lies on the X chromosome, which is just one of the 2 sex chromosomes. Males are affected by X-linked recessive disorders more frequently than females because it is not likely that women will have two altered copies of this gene. An attribute of X-linked inheritance is that fathers can not pass X-linked traits to their sons.

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