The immune system is composed of innate humoral defence and adaptive immunity. One of the key mechanisms of the innate humoral defence is through complement activation. Mutations of certain enzyme may affect the complement activation and result in decreased defence against microorganisms. Mannan-binding lectin serine protease 2 (MASP-2) mutation was associated with recurrent infections and autoimmune diseases. Tuberculosis (TB) has been linked with mannose-binding lectin and MASP-2 gene polymorphism. We report a case of a paediatric patient with MASP-2 deficiency with classical and atypical features associated with Crohn’s, onychomycosis and severe cutaneous infections including TB. We also report the presence of a new mutation variant in MASP-2 reported in whole exome sequencing of our patient.
- gastrointestinal system
- malignant disease and immunosuppression
- Crohn’s disease
- inflammatory bowel disease
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Contributors MH is the main responsible physician for the patient at the point of care. MH decided to plan for publication of the case since it has its interesting features. RH did literature review and wrote the introduction and discussion. MH gained the patient consent, wrote the case report part and provided educational key points for the case. MH contributed actively and reviewed the case and performed modifications. Both authors contributed to the final manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.
Patient consent for publication Obtained.
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