Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran

Abstract

Recurrent severe bacterial and fungal infections are characteristic features of the rare genetic immunodeficiency disorder chronic granulomatous disease (CGD). The disease usually manifests within the first years of life with an incidence of 1 in approximately 200,000 live births. The incidence is higher in Iran and Morocco where it reaches 1.5 per 100,000 live births. Mutations have been described in the 5 subunits of NADPH oxidase, mostly in gp91^phox and p47^phox, with fewer mutations reported in p67^phox, p22^phox, and p40^phox. These mutations cause loss of superoxide production in phagocytic cells. CYBB, the gene encoding the large gp91^phox subunit of the transmembrane component cytochrome b₅₅₈ of the NADPH oxidase complex, is localized on the X-chromosome. Genetic defects in CYBB are responsible for the disease in the majority of male CGD patients. CGD is associated with the development of granulomatous reactions in the skin, lungs, bones, and lymph nodes, and chronic infections may be seen in the liver, gastrointestinal tract, brain, and eyes. There is usually a history of repeated infections, including inflammation of the lymph glands, skin infections, and pneumonia. There may also be a persistent runny nose, inflammation of the skin, and inflammation of the mucous membranes of the mouth. Gastrointestinal problems can also occur, including diarrhea, abdominal pain, and perianal abscesses. Infection of the bones, brain abscesses, obstruction of the genitourinary tract and/or gastrointestinal tract due to the formation of granulomatous tissue, and delayed growth are also symptomatic of CGD. The prevention of infectious complications in patients with CGD involves targeted prophylaxis against opportunistic microorganisms such as Staphylococcus aureus, Klebsiella spp., Salmonella spp. and Aspergillus spp. In this review, we provide an update on organ involvement and the association with specific isolated microorganisms in CGD patients.

<p>Geographic Variability and Pathogen-Specific Considerations in the Diagnosis and Management of Chronic Granulomatous Disease</p>

“…7,28 In Middle Eastern countries, lymphadenitis is the most common infection overall. 4,29 While Staphylococcus aureus, Serratia marcescens, and Klebsiella spp are common causes of skin and lymph node infections, occasionally no organism is identified. In these cases, careful consideration must be taken to identify more unusual and fastidious organisms (see pathogen-specific considerations below).…”

Spectrum of childhood interstitial and diffuse lung diseases at a tertiary hospital in Egypt

“…In addition, they had recurrent pneumonias, associated with persistent elevation in erythrocyte sedimentation rate. ChILD seen in CGD patients could be a sequel to recurrent life-threatening infections, or a result of sterile inflammation due to increased expression of pro-inflammatory molecules in genes encoding polymorphonuclear cells [ 23 , 24 ]. chILD is considered to be a rare pulmonary complication among CGD patients, with few published case reports worldwide.…”

Imaging findings of pulmonary manifestations of chronic granulomatous disease in a large single center from Shanghai, China (1999–2018)

“…In our research, the average stimulative index of CYBB was found to be much lower than that of CYBA and NCF1, indicating more severe granulocytic disability. The lungs have been found to be the most affected organs, with various and complex manifestations in CGD patients 1,10,11 . Radiologic findings can reveal multiple manifestations for the evaluation of disease progress.…”

“…The lungs have been found to be the most affected organs, with various and complex manifestations in CGD patients 1 , 10 , 11 . Radiologic findings can reveal multiple manifestations for the evaluation of disease progress.…”