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Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development : a cross-sectional study
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Congenital myeloperoxidase deficiency caused by a homozygous MPO splice site mutation in a patient with recurrent candida otomastoiditis
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A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects
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To B or not to B matured : a novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B cell maturation defects
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To B or not to B matured : a novel IKAROS haploinsufficiency kindred with incomplete penetrance both at clinical and cellular level
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Persistent rotavirus diarrhea post-transplant in a novel JAK3-SCID patient after vaccination
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Recurrent cutaneous abscesses as the presenting manifestation of STAT1 gain-of-function mutation
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The immunophenotypical landscape of patients with primary antibody deficiencies and their asymptomatic first-degree relatives : arguments for a multifactorial aetiology