Hyper-IgM and acquired C1q complement deficiency in a patient with de novo ATM mutation.
Adrian Y S LeePei DaiLeslie BurnettXiumei WeiFakhria KakarThomas OhnesorgMing-Wei LinPublished in: Oxford medical case reports (2023)
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.
Keyphrases
- rare case
- case report
- peripheral blood
- early onset
- single cell
- dna damage
- replacement therapy
- copy number
- poor prognosis
- dna repair
- dna damage response
- high throughput
- genome wide
- depressive symptoms
- electronic health record
- gene expression
- machine learning
- oxidative stress
- label free
- wound healing
- soft tissue
- transcription factor
- early life
- real time pcr
- genome wide identification
- loop mediated isothermal amplification
- data analysis
- genome wide analysis
- wild type