# A Case of Chronic Granulomatous Disease Masquerading As Tubercular Lymphadenitis in an Infant

## TL;DR

An infant with chronic granulomatous disease was misdiagnosed with tuberculosis, highlighting the importance of considering immune disorders in recurrent infections.

## Contribution

A novel NCF2 gene mutation associated with autosomal recessive CGD was identified through clinical exome sequencing.

## Key findings

- The patient's abnormal NBT and DHR tests indicated chronic granulomatous disease.
- A novel NCF2 gene mutation was confirmed via next-generation sequencing.
- Successful treatment with antibiotics, antifungals, and HSCT led to a 1.5-year infection-free period.

## Abstract

Chronic granulomatous disease (CGD) is a rare inborn error of immunity characterized by recurrent fungal and bacterial infections due to defective nicotinamide adenine dinucleotide phosphate (NADPH) oxidase activity. This case report describes an 11-month-old female who was initially diagnosed with tubercular lymphadenitis and presented with fever and bilateral neck swelling. Despite receiving anti-tubercular treatment (ATT) and intravenous antibiotics, the patient experienced recurrent infections and abscesses, prompting further investigation. Laboratory tests revealed normal immunoglobulin levels but abnormal nitroblue tetrazolium (NBT) and dihydrorhodamine (DHR) tests, indicating CGD. Genetic analysis (clinical exome by next-generation sequencing) confirmed a novel NCF2 gene mutation associated with autosomal recessive CGD. This patient was treated with prophylactic antibiotics and antifungals and subsequently underwent successful hematopoietic stem cell transplantation (HSCT). This highlights the diagnostic challenges associated with CGD, particularly in tuberculosis-endemic regions such as India, emphasizing the importance of considering primary immunodeficiency disorders in patients with recurrent infections. Early diagnosis and appropriate treatment, including HSCT, can significantly improve patient outcomes. The patient remained infection-free on prophylactic antimicrobials for 1.5 years post-discharge, demonstrating the potential for a favorable prognosis with timely intervention and comprehensive management.