Genetically confirmed chronic granulomatous disease in a Kenyan child: case report

Front Immunol. 2023 May 18:14:1172848. doi: 10.3389/fimmu.2023.1172848. eCollection 2023.

Abstract

Introduction: We report the first case of genetically confirmed chronic granulomatous disease (CGD) in a Kenyan child.

Clinical findings: A 7-month-old male infant, the only child of non-consanguineous parents, presented with cough, fever, fast breathing, oral thrush, and axillary lymphadenopathy ipsilateral to the Calmette-Guérin bacillus scar. He had been hospitalized 5 weeks prior for severe pneumonia. Plain chest radiography showed bilateral patchy airspace opacification; chest computed tomography revealed multiple large lung nodules and left axillary lymphadenopathy. HIV ELISA was negative; tuberculin skin test was positive; lymph node biopsy macroscopically revealed caseous granulomas seen on histology; isoniazid- and rifampicin-susceptible Mycobacterium tuberculosis complex isolate was detected on the Hain test. First-line anti-tuberculous drugs were added to his empiric treatment comprising piperacillin-tazobactam, amikacin, cotrimoxazole, and fluconazole. He was discharged after 10 days based on clinical resolution.

Diagnoses interventions and outcome: An inborn error of immunity (IEI) was considered given the recurrent fevers and atypical lung nodules. Genetic analysis revealed a hemizygous pathogenic variant on CYBB in keeping with X-linked CGD. The child's fevers recurred 2 weeks post-discharge but completely resolved on prophylactic itraconazole and cotrimoxazole. He underwent a successful haplo-identical hematopoietic stem cell transplantation at an experienced center in India with his father as the donor and is currently doing well on post-transplant follow-up.

Conclusion: Genetic testing is relatively accessible and cost-effective for the diagnosis of IEI in low-and-middle-income countries. Expert multi-disciplinary collaboration is key for successful outcomes.

Keywords: Africa; inborn errors of immunity; mycobacteria; primary immunodeficiency; tuberculosis.

Publication types

  • Case Reports

MeSH terms

  • Aftercare
  • Child
  • Granulomatous Disease, Chronic* / diagnosis
  • Granulomatous Disease, Chronic* / genetics
  • Humans
  • Infant
  • Kenya
  • Lymphadenopathy*
  • Male
  • Patient Discharge
  • Trimethoprim, Sulfamethoxazole Drug Combination / therapeutic use

Substances

  • Trimethoprim, Sulfamethoxazole Drug Combination

Associated data

  • figshare/10.6084/m9.figshare.22561513