Chronic granulomatous disease (CGD) is a rare inherited primary
immunodeficiency disorder that affects phagocytes and is characterized
by a marked increased susceptibility to severe bacterial and
fungal infections. We aimed to describe the clinical presentations of
pediatric patients with CGD in Upper Egypt and to identify the
defective component of NADPH oxidase. Pediatric patients diagnosed
with CGD within one year from January 2018 to
January 2019 were enrolled in the study. Patient history, clinical
and laboratory investigations were carried out, including nitroblue
tetrazolium test and flow cytometry DHR analysis. Infectious microorganisms
were isolated from infected sites to identify the causative
agents and their resistance profile. A total of 15 patients were
diagnosed with CGD. Failure to thrive and lymphadenopathy were
the most common presentations. The median age of clinical onset
was 1.17 years of age. The most common gene mutations were
observed in the CYBA gene. All cases showed pulmonary infections
followed by abscesses. Staphylococcus aureus and Klebsiella pneumoniae
were the most frequently isolated bacterial pathogens,
Aspergillus spp and Candida spp were isolated from fungal infections.
4/15 (26.7%) children died due to severe serious infections.
We concluded that CGD is common in Upper Egypt, and we recommend
raising the awareness and testing for CGD in pediatric
patients with recurrent or persistent infections, especially those
with a familiar history of similar manifestations to avoid delays in
proper diagnosis and deterioration of cases.