X-linked Chronic Granulomatous Disease Presenting Clinically as Tuberculosis in a 10-Month-Old Child: A Case Report
Published: April 1, 2026 | DOI: https://doi.org/10.7860/JCDR/2026/80606.23090
Sahibjot Singh Romana, Uday Pratap Singh, Kanav Goyal, Arnav Jagota
1. Medical Student, Department of Paediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
2. Medical Student, Department of Paediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
3. Medical Student, Department of Paediatrics, Indira Gandhi Medical College, Shimla, Himachal Pradesh, India.
4. Medical Student, Department of Paediatrics, Indira Gandhi Medical College, Shimla Himachal Pradesh, India.
Correspondence Address :
Dr. Arnav Jagota,
Indira Gandhi Medical College, Circular Road, Shimla-171001, Himachal Pradesh, India.
Email: arnavjagota352@gmail.com
Abstract
Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency with an estimated incidence of 1 in 200,000-250,000 live births caused by defects in the Nicotinamide Adenine Dinucleotide Phosphate (NADPH) oxidase complex. NADPH oxidase deficiency leads to an impaired phagocyte respiratory burst and increased susceptibility to recurrent bacterial and fungal infections, with excessive inflammation and granuloma formation. This is a case report of 10-month-old infant who initially presented with pneumonia and cervical lymphadenitis. The child had a history of multiple hospital admissions for infections, raising concern for an underlying immunodeficiency. Laboratory evaluation showed an elevated C-Reactive Protein (CRP) with neutrophil predominance. The tuberculin skin test was positive, while mycobacterial PCR (polymerase chain reaction) was negative. Blood cultures grew Staphylococcus aureus. Cervical lymph node biopsy demonstrated granulomatous inflammation. Functional testing with the Nitroblue Tetrazolium Test (NBT) and Dihydrorhodamine (DHR) flow cytometry revealed a defective oxidative burst. Whole-exome sequencing identified a CYBB (cytochrome b-245 beta chain) mutation, confirming a diagnosis of X-linked CGD. The patient’s active infection and inflammatory manifestations were treated successfully. This case highlights the importance of early screening for CGD in infants with recurrent or severe infections, the use of definitive functional and genetic testing for accurate diagnosis, and the timely initiation of antimicrobial prophylaxis to reduce morbidity and mortality.
Keywords
Lymphadenitis, Phagocyte dysfunction, Primary immunodeficiency diseases, Recurrent infections