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Homozygous N-terminal missense mutation in TRNT1 leads to progressive B-cell immunodeficiency in adulthood
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- Journal Article
- A1
- open access
Fifth percentile cutoff values for antipneumococcal polysaccharide and anti-salmonella typhi Vi IgG describe a normal polysaccharide response
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PID in disguise : molecular diagnosis of IRAK-4 deficiency in an adult previously misdiagnosed with autosomal dominant hyper IgE syndrome
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A novel hypomorphic mutation in STIM1 results in a late-onset immunodeficiency
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- Journal Article
- A1
- open access
Hematopoietic stem cell transplantation rescues the immunologic phenotype and prevents vasculopathy in patients with adenosine deaminase 2 deficiency