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Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.
TLDR
The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system that is inherited as a single-locus autosomal dominant trait with variable expressivity. Expand
STAT3 mutations in the hyper-IgE syndrome.
TLDR
Mutations in STAT3 underlie sporadic and dominant forms of the hyper-IgE syndrome, an immunodeficiency syndrome involving increased innate immune response, recurrent infections, and complex somatic features. Expand
Inflammatory bowel disease and mutations affecting the interleukin-10 receptor.
TLDR
Mutations in genes encoding the IL10R subunit proteins were found in patients with early-onset enterocolitis, involving hyperinflammatory immune responses in the intestine, and resulted in disease remission in one patient. Expand
A homozygous CARD9 mutation in a family with susceptibility to fungal infections.
TLDR
Functional studies based on genetic reconstitution of myeloid cells from Card9(-/-) mice showed that the Q295X mutation impairs innate signaling from the antifungal pattern-recognition receptor dectin-1. Expand
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.
TLDR
This work has identified a gene that is mutated or deleted in autosomal recessive hyper-IgE syndrome that is associated with a phenotype of severe cellular immunodeficiency characterized by susceptibility to viral infections, atopic eczema, defective T-cell activation and T(h)17 cell differentiation, and impaired eosinophil homeostasis and dysregulation of IgE. Expand
B-cell biology and development.
TLDR
The combination of susceptible genetic backgrounds with the rescue of self-reactive B cells by T cells allows the generation of autoreactive clones found in patients with many autoimmune diseases and even in those with primary immunodeficiencies. Expand
An antibody-deficiency syndrome due to mutations in the CD19 gene.
TLDR
Mutation of the CD19 gene causes a type of hypogammaglobulinemia in which the response of mature B cells to antigenic stimulation is defective, and in all four patients, the antibody response to rabies vaccination was poor. Expand
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency
TLDR
The phenotype of human ICOS deficiency, which differs in key aspects from that of the ICOS−/− mouse, suggests a critical involvement of ICOS in T cell help for late B cell differentiation, class-switching and memory B cell generation. Expand
Common variable immunodeficiency disorders: division into distinct clinical phenotypes.
TLDR
The European Common Variable Immunodeficiency Disorders registry was started in 1996 to define distinct clinical phenotypes and determine overlap within individual patients and analysis of mortality showed a considerable reduction in the last 15 years and that different phenotypes were associated with different survival times. Expand
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3
TLDR
A failure of CD4+ T cells harboring heterozygous STAT3 mutations to generate interleukin 17–secreting cells in vivo and in vitro due to a failure to express sufficient levels of the Th17-specific transcriptional regulator retinoid-related orphan receptor γt is demonstrated. Expand
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