Hyper-IgM and acquired C1q complement deficiency in a patient with de novo  ATM mutation

Hyper-IgM syndrome (HIGM) is a rare immunodeficiency phenotype that is usually accompanied by serious infections. We present a curious case of the incidental detection of HIGM in a 45-year-old male with complement C1q deficiency. He had relatively mild sinopulmonary infections, recurrent skin infections and lipomas in his adulthood. Investigations revealed normal enumeration of total peripheral blood B cells and reduced expression of CD40L on his CD4⁺ T cells. C1q was noted to be absent, due to a peripheral inhibitor such as an autoantibody. Genomic sequencing of the patient and his parents revealed a novel, de novo heterozygous mutation in the ATM (ataxia telangiectasia mutated) gene although he displayed no clinical evidence of ataxia telangiectasia. This is a rare case of HIGM and acquired C1q deficiency. We present full phenotyping data that contributes to the growing understanding to these interesting immunodeficiencies.