000 03275nam a22004815i 4500
001 60513
005 20200226102419.0
007 cr nn 008mamaa
008 170103s2017 gw | s |||| 0|eng d
020 _a9783658167967
_9978-3-658-16796-7
024 7 _a10.1007/978-3-658-16796-7
_2doi
035 _a(DE-He213)978-3-658-16796-7
050 4 _aRJ1-570
072 7 _aMJW
_2bicssc
072 7 _aMED069000
_2bisacsh
082 0 4 _a618.92
_223
100 1 _aSalzer, Elisabeth.
_eauthor.
245 1 0 _aIdentifying Novel Inborn Errors of the Immune System
_h[electronic resource] :
_bPrimary Immunodeficiencies with Defective Class Switch and Autoimmunity /
_cby Elisabeth Salzer.
264 1 _aWiesbaden :
_bSpringer Fachmedien Wiesbaden :
_bImprint: Springer,
_c2017.
300 _aXXIII, 76 p. 11 illus.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aBestMedDiss
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 _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 0 _aMedicine.
650 0 _aHuman genetics.
650 0 _aImmunology.
650 0 _aPediatrics.
650 1 4 _aMedicine & Public Health.
650 2 4 _aPediatrics.
650 2 4 _aImmunology.
650 2 4 _aHuman genetics.
710 2 _aSpringerLink (Online service)
773 0 _tSpringer eBooks
776 0 8 _iPrinted edition:
_z9783658167950
830 0 _aBestMedDiss
856 4 0 _uhttp://dx.doi.org/10.1007/978-3-658-16796-7
912 _aZDB-2-SME
999 _c3758
_d3758