X-linked chronic granulomatous disease misdiagnosed as non-Langerhans cell histiocytosis: A case report.

Abstract

Chronic granulomatous disease (CGD) is a rare primary immune deficiency caused by a defect in the phagocyte nicotinamide adenine dinucleotide phosphate oxidase enzyme complex and is X-linked recessive or autosomal recessive (AR) inherited. X-linked CGD is found most commonly in outbred populations, while AR-CGD is more common in areas with high consanguinity. In children, the hallmark clinical manifestation of CGD is a severe life-threatening bacterial or fungal infection, especially caused by catalase-positive organisms or Aspergillus species and also from complications due to the Bacillus Calmette-Guerin (BCG) vaccination in developing countries.2 However, granulomas consisting of lymphocytes and histiocytes may develop instead of overt pyogenic infections when stalemates occur between the pathogen and the CGD patient's leucocytes. Although typical clinical manifestations combined with small gene panel analysis or next-generation sequencing can provide relatively rapid and accurate diagnoses of CGD in children, there has been a lag between onset and diagnosis of CGD, especially in developing countries.