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    Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency
    (Academic Press Inc Elsevier Science, 2004) Quartier, P; Bustamante, J; Sanal, O; Plebani, A; Debre, M; Deville, A; Litzman, J; Levy, J; Fermand, JP; Lane, P; Horneff, G; Aksu, G; Yalcin, I; Davies, G; Tezcan, I; Ersoy, F; Catalan, N; Imai, K; Fischer, A; Durandy, A
    Mutations of the Activation-Induced Cytidine Deaminase (AID) gene have been found in patients with autosomal recessive hyper-IgM (HIGM) syndrome type 2. We retrospectively analyzed clinical, immunologic and genetic characteristics of 29 patients from 22 families with AID deficiency. Patients' median age at diagnosis and at last evaluation was 4.9 years (range: 0 to 53) and 14.2 years (range: 2.7 to 63), respectively. Most patients had suffered from recurrent and severe infections, however, intravenous immunoglobulin (IVIG) replacement therapy resulted in a dramatic decrease in the number of infections. Lymphoid hyperplasia developed in 22 patients and persisted in 7 at last follow-up. It is striking to note that six patients developed autoimmune or inflammatory disorders including diabetes mellitus, polyarthritis, autoimmune hepatitis, hemolytic anemia, immune thrombocytopenia, Crohn's disease and chronic uveitis. Fifteen distinct AID mutations were found but there was no significant genotype-phenotype correlation. In conclusion, AID-deficient patients are prone to infections and lymphoid hyperplasia, which may be prevented by early-onset IVIG replacement, but also to autoimmune and inflammatory disorders. (C) 2003 Elsevier Inc. All rights reserved.
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    Disseminated Cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency
    (Mosby-Elsevier, 2003) Kutukculer, N; Moratto, D; Aydinok, Y; Lougaris, V; Aksoylar, S; Plebani, A; Genel, F; Notarangelo, LD
    We report the case of an infant with severe respiratory infections, chronic diarrhea, failure to thrive, and disseminated Cryptosporidium parvum infection. Laboratory investigations disclosed a diagnosis of hyper-IgM syndrome caused by CD40 deficiency.
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    Disseminated Cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency
    (Mosby-Elsevier, 2003) Kutukculer, N; Moratto, D; Aydinok, Y; Lougaris, V; Aksoylar, S; Plebani, A; Genel, F; Notarangelo, LD
    We report the case of an infant with severe respiratory infections, chronic diarrhea, failure to thrive, and disseminated Cryptosporidium parvum infection. Laboratory investigations disclosed a diagnosis of hyper-IgM syndrome caused by CD40 deficiency.
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    Functional defects of dendritic cells in patients with CD40 deficiency
    (Amer Soc Hematology, 2003) Fontana, S; Moratto, D; Mangal, S; De Francesco, M; Vermi, W; Ferrari, S; Facchetti, F; Kutukculer, N; Fiorini, C; Duse, M; Das, PK; Notarangelo, LD; Plebani, A; Badolato, R
    We have recently identified 2 patients with a rare autosomal recessive form of hyper IgM disease, known as HIGM3, caused by mutations in the CD40 gene. These patients had opportunistic infections observed on X-linked hyper IgM syndrome (HIGM), suggesting that the CD40-CD40 ligand interaction is important for promoting T-cell-mediated immunity. To evaluate whether innate immunity signals may substitute CD154 for inducing the maturation of dendritic cells (DCs), we analyzed monocyte-derived DCs in these patients. Monocyte-derived DCs of HIGM3 subjects on ex vivo stimulation with tumor necrosis factor-alpha (TNP-alpha) or lipopolysaccharide (LIPS) combined with interferon-gamma (IFN-gamma) normally express all the markers of mature DCs, such as CD83 and DC-LAMP. However, cell surface levels of HLA-DR in mature DCs are reduced, as is costimulatory activity of these cells for allogeneic naive T cells. In addition, CD40-deficient DCs secrete lower amounts of interieukin-12 (IL-12) but larger quantities of IL-10 than control subjects. Finally, analysis of circulating plasmacytoid DCs demonstrates a normal percentage of this subset in CD40-deficient cells, but IFN-alpha secretion in response to herpes simplex virus 1 (HSV-1) infection is severely reduced in patients. These observations suggest that the severe impairment of DC maturation may contribute to the defect of T-cell-mediated immunity observed in HIGM3 patients. (C) 2003 by The American Society of Hematology.