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Common variable immunodeficiency disorders: division into distinct clinical phenotypes.
The European Common Variable Immunodeficiency Disorders registry was started in 1996 to define distinct clinical phenotypes and determine overlap within individual patients. A total of 7 centersExpand
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Impairment of Mycobacterial But Not Viral Immunity by a Germline Human STAT1 Mutation
Interferons (IFN) α/β and γ induce the formation of two transcriptional activators: gamma-activating factor (GAF) and interferon-stimulated gamma factor 3 (ISGF3). We report a natural heterozygousExpand
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Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency.
The receptors for interferon-alpha/beta (IFN-alpha/beta) and IFN-gamma activate components of the Janus kinase-signal transducer and activator of transcription (JAK-STAT) signaling pathway, leadingExpand
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Infections in 252 patients with common variable immunodeficiency.
BACKGROUND Common variable immunodeficiency is characterized by recurrent infections and defective immunoglobulin production. METHODS The DEFI French national study prospectively enrolled adultExpand
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Pyogenic Bacterial Infections in Humans with IRAK-4 Deficiency
Members of the Toll-like receptor (TLR) and interleukin-1 receptor (IL-1R) superfamily share an intracytoplasmic Toll–IL-1 receptor (TIR) domain, which mediates recruitment of the interleukin-1Expand
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Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.
Mendelian susceptibility to mycobacterial diseases confers predisposition to clinical disease caused by weakly virulent mycobacterial species in otherwise healthy individuals. Since 1996,Expand
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X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production
Germline mutations in five autosomal genes involved in interleukin (IL)-12–dependent, interferon (IFN)-γ–mediated immunity cause Mendelian susceptibility to mycobacterial diseases (MSMD). TheExpand
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Impaired response to interferon-α/β and lethal viral disease in human STAT1 deficiency
The receptors for interferon-α/β (IFN-α/β) and IFN-γ activate components of the Janus kinase–signal transducer and activator of transcription (JAK–STAT) signaling pathway, leading to the formation ofExpand
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Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells
The cytokines controlling the development of human interleukin (IL) 17–producing T helper cells in vitro have been difficult to identify. We addressed the question of the development of humanExpand
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Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
Interleukin-12 (IL12) is a cytokine that is secreted by activated phagocytes and dendritic cells and that induces interferon-gamma production by natural-killer and T lymphocytes. It consists of twoExpand
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