JAGN1 and infection: Currently, reported patients with JAGN1 mutations have presented recurrent infection, abscess formation, structural deformities or dysfunction in various organ- systems, including FTT, short stature, neuro-developmental delay, seizure, dysmorphic face, teeth malformation, gingival hypertrophy, cardiovascular anomalies, hepatosplenomegaly, hypospadias, undescended testis, amelogenesis imperfecta, skeletal deformities, extramedullary hematopoiesis complications and symptoms [5, 6, 9].