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Complement C9 deficiency as a novel risk factor for invasive Candida esophagitis in children: a single case in-depth

Guimei Zheng1,2, Jian Zhang3,2, Kerong Peng4,2

  • 1Department of Pulmonology, The Children's Hospital, Zhejiang University School of Medicine, Hangzhou, China.

BMC Pediatrics
|March 4, 2026
PubMed
Abstract

Insights

Isolated complement component 9 (C9) deficiency may predispose children to recurrent fungal esophagitis and strictures. Early complement screening and combined antifungal and endoscopic treatment are key for managing this rare condition.

Area of Science:

  • Immunology
  • Gastroenterology
  • Genetics

Background:

  • The complement system is crucial for innate immunity against fungal infections.
  • Complement component 9 (C9) is vital for the membrane attack complex (MAC) in pathogen elimination.
  • Isolated C9 deficiency has not been previously linked to fungal esophagitis.

Purpose of the Study:

  • To report a case of fungal esophagitis in a child with isolated C9 deficiency.
  • To highlight the potential role of C9 deficiency in recurrent esophageal candidiasis.
  • To evaluate treatment strategies for this condition.

Main Methods:

  • A case study of a pediatric patient with persistent dysphagia, nausea, and vomiting.
  • Esophagogastroduodenoscopy and biopsy confirmed Candida albicans esophagitis with stricture.
  • Whole-exome sequencing identified a pathogenic variant causing isolated C9 deficiency.

Main Results:

  • The patient experienced recurrent esophageal strictures and Candida albicans infection despite monthly endoscopic dilations.
  • Genetic analysis confirmed isolated C9 deficiency as the underlying cause.
  • Combined fluconazole therapy and repeated endoscopic dilations led to sustained symptom resolution.

Conclusions:

  • Isolated C9 deficiency may increase susceptibility to recurrent fungal esophagitis with strictures in children.
  • Complement screening is recommended for pediatric cases of unexplained recurrent fungal esophagitis.
  • A combined approach of antifungal therapy and endoscopic intervention can achieve long-term remission.
Keywords:
Candida esophagitis(CE)ChildrenComplement C9 deficiencyEsophageal strictureImmunodeficiency

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