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Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
Clinical outcome in IL-10- and IL-10 receptor-deficient patients with or without hematopoietic stem cell transplantation.
Recombinant human hyaluronidase-facilitated subcutaneous infusion of human immunoglobulins for primary immunodeficiency.
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles.
Hematopoietic stem cell transplantation for CD3d deficiency.
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome.
Primary immunodeficiencies: 2009 update.
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.