REVUE ALGERIENNE D’ALLERGOLOGIE
Volume 11, Numéro 2, Pages 39-44
2026-07-30

Multifocal Tuberculosis Revealing A Chronic Granulomatous Disease : A Case Report And Comprehensive Review Of The Literature

Authors : Mohand Oussaid Aida . Bouterfas Nabila . Brahim Belaid . Nafai Zineb . Khadri Yasmine . Dahmane Nabila . Bouguerra Sabrine . Mehidi Khaled . Benhalla Nafissa Keltoum . Ladjouze Asmahane .

Abstract

Chronic granulomatous disease (CGD) is a rare inherited inborn error of immunity caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex, resulting in impaired reactive oxygen species production and defective intracellular killing of microorganisms. Although recurrent bacterial and fungal infections represent the classical phenotype, Mycobacterium tuberculosis is increasingly recognized as a clinically relevant pathogen in tuberculosis-endemic regions. Multifocal tuberculosis as the initial manifestation of CGD remains rare and may substantially delay diagnosis. Case Presentation We report a 12-year-old Algerian boy born to second-degree consanguineous parents who presented with recurrent pleuropulmonary infections, severe growth failure, hepatosplenomegaly and multifocal tuberculosis involving the thoracolumbar spine, pleura and psoas muscle. Despite prolonged antituberculous therapy, he developed recurrent pleural effusions and persistent inflammatory disease. The combination of recurrent respiratory infections, generalized lymphadenopathy, hepatosplenomegaly, growth failure and parental consanguinity prompted investigation for an underlying inborn error of immunity. Functional assessment of neutrophil oxidative burst using the dihydrorhodamine (DHR) assay confirmed CGD. Antibacterial and antifungal prophylaxis was initiated, and the patient was referred for hematopoietic stem cell transplantation evaluation. Conclusion This case broadens the recognized infectious spectrum of CGD and highlights the need to consider CGD in children presenting with severe or multifocal tuberculosis associated with recurrent infections or other warning signs of immunodeficiency. Earlier diagnosis may facilitate timely prophylaxis, genetic counselling and referral for curative transplantation.

Keywords

Chronic granulomatous disease; ; inborn error of immunity ; phagocyte dysfunction ; multifocal tuberculosis ; NADPH oxidase deficiency ; dihydrorhodamine assay ; hematopoietic stem cell transplantation.