ABSTRACT
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.
Subject(s)
Crohn Disease/genetics , Crohn Disease/microbiology , Mannose-Binding Protein-Associated Serine Proteases/deficiency , Onychomycosis/genetics , Tuberculosis, Cutaneous/genetics , Child , Humans , Male , Mutation , Onychomycosis/microbiology , Tuberculosis, Cutaneous/microbiologyABSTRACT
Tetralogy of Fallot (TOF) is the most common form of cyanotic congenital heart disease beyond the age of 3 months. Complete heart block (CHB) is rare but a serious sequalae post-repair of TOF. We present a case of an 18-month-old child who developed late CHB after around 1 year of the corrective surgery of the congenital anomaly. On the regular follow-up visit, the patient assessment was unremarkable. However, there was bradycardia, 55 beats/min. The ECG showed complete atrioventricular dissociation. Echocardiogram was done and demonstrated severe tricuspid regurgitation (TR). The patient required a permanent pacemaker and he is currently well. We are presenting this case as a late unexpected CHB, with a possibility of progressive right-side dilatation as a contributing factor to CHB due to severe TR.
