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001			95234
003			ES-MaUEC
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006			m o d
007			cr cnu|||unuuu
008			170119s2017 gw a ob 000 0 eng d
020			_a3658167963 _q(electronic bk.)
020			_a9783658167967 _q(electronic bk.)
020			_z3658167955
020			_z9783658167950 _q(print)
035			_a(OCoLC)969342141 _z(OCoLC)969553929 _z(OCoLC)974651031 _z(OCoLC)981844080 _z(OCoLC)1005832609 _z(OCoLC)1011847480
040			_aGW5XE _cGW5XE _dEBLCP _dN$T _dIDEBK _dUAB _dNJR _dYDX _dOCLCO _dUPM _dOCLCO _dOCLCF _dIOG _dOCLCO _dMERER _dESU _dZ5A _dOCLCO _dOCLCQ _dOCLCO _dJBG _dIAD _dOCLCO _dICW _dOCLCO _dICN _dOCLCQ _dOCLCO _dOTZ _dOCLCQ _dVT2 _dOCLCO _dOCLCQ _dU3W _dMERUC _dOCLCO _dOCLCQ _dOCLCO _dES-MaUEC _bspa
050		4	_aRC582 _b2017 EB
100	1		_aSalzer, Elisabeth, _eautor
245	1	0	_aIdentifying novel inborn errors of the immune system : _bprimary immunodeficiencies with defective class switch and autoimmunity _cElisabeth Salzer ; with a preface by Ass. Prof. Priv.-Doz. Dr. Kaan Boztug.
264		1	_aWiesbaden, Germany _bSpringer International Publishing _c2017
300			_a1 recurso en línea (xxiii, 76 páginas) _bilustraciones
336			_aTexto _btxt _2rdacontent
337			_aelectrónico _bc _2rdamedia
338			_arecurso electrónico _bcr _2rdacarrier
347			_atext file _bPDF _2rda
490	0		_aBestMedDiss
504			_aIncluye referencias bibliográficas
505	0		_aCD27 Deficiency-Description of a Large Patient Cohort -- PRKCD Deficiency with Lupus-Like Autoimmunity -- IL-21 Deficiency Results in Very Early-Onset Inflammatory Bowel Disease.
520	3		_aIn her study Elisabeth Salzer describes three novel monogenic diseases. For CD27 deficiency Elisabeth Salzer describes a large cohort of patients. Although all patients shared the same causative missense mutation, they displayed diverse clinical presentations. In another patient she was able to identify a mutation in PRKCD resulting in a primary immunodeficiency with severe Lupus-like autoimmunity. The patient exhibited increased mRNA levels of IL6. Therefore, treatment with Tocilizumab, a humanized anti-IL-6 receptor monoclonal antibody was suggested. In a family with a history of deaths due to inflammatory bowel disease she identified a missense mutation in IL21. She produced wild type and mutated IL-21 protein and demonstrated a loss of function phenotype. As IL-21 is in clinical trials, she proposed a potentially curative treatment option. These discoveries contributed to the understanding of the multifaceted regulatory mechanisms of the immune system and highlighted essential players in these complex signaling networks. Contents CD27 Deficiency-Description of a Large Patient Cohort PRKCD Deficiency with Lupus-Like Autoimmunity IL-21 Deficiency Results in Very Early-Onset Inflammatory Bowel Disease Target Groups Scientists and students in the field of pediatrics, immunology, gastroenterology, rheumatology and genetics Pediatricians About the Author Dr. Elisabeth Salzer works on the discovery and description of novel immunodeficiencies in children and adolescents at the CeMM Center for Molecular Medicine.
650		7	_aGenética humana _2embne _0(OCoLC)fst00963075 _0 _9140562
650		7	_aInmunología _0(OCoLC)fst00968006 _0 _2embne _9138330
856	4	0	_uhttps://go.openathens.net/redirector/universidadeuropea.es?url=http://link.springer.com/10.1007/978-3-658-16796-7 _zAcceso a este recurso digital (usuarios Universidad Europea de Madrid)
988			_aSpringer_Medicine_2017
998			_b02/2018 _dz _e- _zSI
999			_c95234 _d95234 _x1