Peculiar hyper-IgM syndrome. Case report / Sindrom hiper-IgM atipic. Prezentare de caz

We report a male infant diagnosed at the age of 10 months with hyper-IgM syndrome (HIGM) in context of severe infections caused by Streptococcus pneumoniae, Staphylococcus aureus and Candida albicans. In patient’s outcome, in spite of immunoglobulin therapy, he continues presenting bilateral suppurative otitis media due to both Candida and penicillin-resistant pneumococcus and forearm abscess caused by Staphylococcus aureus. The infant developed bilateral cataracts, chronic hepatitis and comminuted fracture secondary to bone demineralization. The patient didn’t develop opportunistic infections as compare to CD40 Ligand deficiency patients. In contrast with the majority of HIGM cases, the infant necessity for immunoglobulin substitution was very limited. As a particularity of immunological phenotype, the patient IgM value progressively increased at a high level.