Asthma Allergy Immunology

Asthma Allergy Immunology

Hyper IgM Syndrome with a Novel Mutation in the AICDA Gene: Easy to Diagnose

Cansu OZDEMIRAL 1, Saliha ESENBOGA 1, Hacer Neslihan BILDIK 1, Deniz CAGDAS 1, Ilhan TEZCAN 1,

1 Department of Pediatrics, Division of Immunology, Hacettepe University Faculty of Medicine, Ankara, Turkey

DOI: 10.21911/aai.073
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Hyper IgM syndrome (HIGM) is a rare primary immunodeficiency (PID) characterized by low IgG and IgA and normal or high IgM levels. The AICDA gene mutations lead to HIGM, the most prevalent autosomal recessive HIGM with intrinsic B cell defects. We present a patient with recurrent otitis media complicated by tympanic membrane perforation who was diagnosed with HIGM syndrome due to a novel mutation in the AICDA gene. Despite the fact that the symptoms began in early childhood, the patient was diagnosed seven years later, when complications developed. First-line immunological examination using serum immunoglobulin levels and antibody responses can rapidly detect antibody deficiencies. Keeping primary antibody deficiencies in mind in patients with recurrent sinopulmonary infections may contribute to an early diagnosis and prevention of complications. Being aware is the most important step in detecting PIDs.

Keywords : Hyper IgM Syndrome, recurrent otitis media, primary immunodeficiency, AICDA gene