Chronic granulomatous disease (CGD) is a primary immunodeficiency caused by defects in the NADPH-oxidase complex. This results in impaired respiratory oxidative species formation, a crucial step in pathogen killing. CGD is characterized by recurrent infections and granuloma formation. Five known gene defects are associated with CGD. X-linked CGD is the most prevalent and severe form. The remaining four defects cause autosomal recessive CGD of which NCF1 deficiency is the most common. We aim to provide the first report on CGD from the UAE.
We are reporting six patients from three different families, all born to consanguineous parents. Four patients are from one family. A 23-year-old male presented with recurrent skin infections and lymphadenitis complicated with skin ulcers & sinus formation. His sisters had a variable clinical presentation, ranging from hepatic abscess to recurrent lymphadenitis and failure to thrive (FTT). A 10-year-old male from the second family suffered recurrent lymphadenitis, recurrent oral thrush, pneumonia and FTT. One sister passed away at 2 years of age secondary to sepsis. A 3-year-old boy from a different family had recurrent lymphadenitis & a deep-seated scalp abscess that required incision & drainage.
Dihydrorhodamine (DHR) flow cytometeric test and next generation gene sequencing were performed.
All patients had impaired neutrophil oxidative burst on DHR testing. The same homozygous, pathogenic variant c.579G>A p.(Trp193*) in the NCF1 gene was detected in affected individuals.
Autosomal recessive CGD is the most prevalent form of CGD in the UAE.