Defeitos genético-moleculares e aspectos clínicos de pacientes com síndrome de hiper IgM autossômica.

Autor: Klaver, Stefanie Gomes

A síndrome de HIGM é uma imunodeficiência, caracterizada por níveis séricos normais ou elevados de IgM associados com baixos níveis de IgG, IgA e IgE. Neste estudo investigamos pacientes com HIGM autossômico recessivo. Selecionamos 15 paciente

Externí odkaz: http://www.teses.usp.br/teses/disponiveis/42/42133/tde-09022012-124352/

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

Autor: Willmann, Katharina L., Klaver, Stefanie, Doğu, Figen, Santos-Valente, Elisangela, Garncarz, Wojciech, Bilic, Ivan, Mace, Emily, Salzer, Elisabeth, Domínguez Conde, Cecilia, Sic, Heiko, Májek, Peter, Banerjee, Pinaki P., Vladimer, Gregory I., Haskoloğlu, Şule, Gökalp Bolkent, Musa, Küpesiz, Alphan, Condino-Neto, Antonio, Colinge, Jacques, Superti-Furga, Giulio, Pickl, Winfried F., van Zelm, Menno C., Eibel, Hermann, Orange, Jordan S., Ikincioğulları, Aydan, Boztuğ, Kaan

Publikováno v: Nature Communications, 5. Nature Publishing Group
Nature Communications
Nature Communications, Nature Publishing Group, 2014, 5, pp.5360. ⟨10.1038/ncomms6360⟩

Primary immunodeficiency disorders enable identification of genes with crucial roles in the human immune system. Here we study patients suffering from recurrent bacterial, viral and Cryptosporidium infections, and identify a biallelic mutation in the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::704769d868aff827ac7ab47b398b5ffa
https://pure.eur.nl/en/publications/ced948dd-c0e5-445b-9af2-7f43cbdcba80

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Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.

Autor: Willmann KL; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Klaver S; 1] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria [2] Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-900, Brazil., Doğu F; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey., Santos-Valente E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Garncarz W; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Bilic I; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Mace E; Center for Human Immunobiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA., Salzer E; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Conde CD; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Sic H; Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg 79180, Germany., Májek P; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Banerjee PP; Center for Human Immunobiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA., Vladimer GI; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Haskoloğlu S; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey., Bolkent MG; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey., Küpesiz A; Department of Pediatric Hematology, Akdeniz University Medical School, Antalya 07985, Turkey., Condino-Neto A; Department of Immunology, Institute of Biomedical Sciences, University of São Paulo, São Paulo 05508-900, Brazil., Colinge J; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Superti-Furga G; CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria., Pickl WF; Christian Doppler Laboratory for Immunomodulation and Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna 1090, Austria., van Zelm MC; Department of Immunology, Erasmus MC, University Medical Center, Rotterdam 3015GE, The Netherlands., Eibel H; Centre of Chronic Immunodeficiency, University Medical Centre Freiburg, Freiburg 79180, Germany., Orange JS; Center for Human Immunobiology, Baylor College of Medicine and Texas Children's Hospital, Houston, Texas 77030, USA., Ikincioğulları A; Department of Pediatric Immunology and Allergy, Ankara University Medical School, Ankara 06100, Turkey., Boztuğ K; 1] CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna 1090, Austria [2] Department of Paediatrics and Adolescent Medicine, Medical University of Vienna, Vienna 1090, Austria.

Publikováno v: Nature communications [Nat Commun] 2014 Nov 19; Vol. 5, pp. 5360. Date of Electronic Publication: 2014 Nov 19.