Selective loss of function variants in

Biomarkers Cell Differentiation / genetics Child Child, Preschool Cytokine Receptor gp130 / chemistry DNA Mutational Analysis Disease Susceptibility Genetic Association Studies Humans Immunophenotyping Job Syndrome / diagnosis Loss of Function Mutation Lymphocyte Activation Male Models, Molecular Pedigree Phenotype Protein Conformation Radiography T-Lymphocyte Subsets / immunology

Journal

Haematologica
ISSN: 1592-8721
Titre abrégé: Haematologica
Pays: Italy
ID NLM: 0417435

Informations de publication

Date de publication:
03 2019
Historique:
received: 26 03 2018
accepted: 03 10 2018
pubmed: 13 10 2018
medline: 12 5 2020
entrez: 13 10 2018
Statut: ppublish

Résumé

Hyper-IgE syndromes comprise a group of inborn errors of immunity. STAT3-deficient hyper-IgE syndrome is characterized by elevated serum IgE levels, recurrent infections and eczema, and characteristic skeletal anomalies. A loss-of-function biallelic mutation in

Identifiants

DOI: 10.3324/haematol.2018.194233 PMID: 30309848 PMC: PMC6395342
pubmed: 30309848
pii: haematol.2018.194233
doi: 10.3324/haematol.2018.194233
pmc: PMC6395342
doi:

Substances chimiques

Biomarkers 0
IL6ST protein, human 0
Cytokine Receptor gp130 133483-10-0

Types de publication

Case Reports Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Pagination

609-621

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 102731/Z/13/Z
Pays : United Kingdom
Organisme : European Research Council
ID : 310857
Pays : International
Organisme : Austrian Science Fund FWF
ID : P 29951
Pays : Austria

Informations de copyright

Copyright© 2019 Ferrata Storti Foundation.

Références

J Allergy Clin Immunol. 2016 Nov;138(5):1384-1394.e2
pubmed: 27350570
J Immunol. 2005 Aug 1;175(3):1686-93
pubmed: 16034109
Cytometry A. 2013 Jun;83(6):530-2
pubmed: 23504907
J Allergy Clin Immunol Pract. 2018 May - Jun;6(3):996-1001
pubmed: 28939137
Biochem J. 2000 Jan 1;345 Pt 1:25-32
pubmed: 10600635
Immunity. 2012 Apr 20;36(4):542-50
pubmed: 22520847
J Allergy Clin Immunol. 2014 May;133(5):1400-9, 1409.e1-5
pubmed: 24589341
Methods Mol Biol. 2017;1514:241-256
pubmed: 27787804
J Allergy Clin Immunol. 2014 May;133(5):1410-9, 1419.e1-13
pubmed: 24698316
Front Immunol. 2012 Jul 31;3:211
pubmed: 23060872
Proc Natl Acad Sci U S A. 1996 Jan 9;93(1):407-11
pubmed: 8552649
Immunol Rev. 2005 Feb;203:244-50
pubmed: 15661034
Immunity. 2017 Feb 21;46(2):220-232
pubmed: 28228280
Nature. 2007 Aug 30;448(7157):1058-62
pubmed: 17676033
J Immunol. 2000 Jan 1;164(1):273-82
pubmed: 10605021
J Clin Immunol. 2018 Jan;38(1):13-27
pubmed: 29086100
Sci Immunol. 2018 Jun 15;3(24):
pubmed: 29907691
N Engl J Med. 2009 Nov 19;361(21):2046-55
pubmed: 19776401
Am J Hum Genet. 1999 Sep;65(3):735-44
pubmed: 10441580
Mamm Genome. 2018 Aug;29(7-8):603-617
pubmed: 30094507
Nature. 1994 Mar 24;368(6469):339-42
pubmed: 8127368
Nat Immunol. 2007 Sep;8(9):967-74
pubmed: 17581537
J Immunol. 2006 Oct 15;177(8):5377-85
pubmed: 17015723
Clin Exp Immunol. 2010 Nov;162(2):271-9
pubmed: 20854328
J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4
pubmed: 20004785
Mol Genet Genomic Med. 2013 Nov;1(4):223-37
pubmed: 24498618
Nat Commun. 2017 Apr 03;8:14816
pubmed: 28368018
Nat Genet. 2017 Aug;49(8):1192-1201
pubmed: 28628108
J Exp Med. 2017 Sep 4;214(9):2547-2562
pubmed: 28747427
J Exp Med. 2015 Jun 1;212(6):855-64
pubmed: 25941256
Medicine (Baltimore). 2012 Jul;91(4):e1-19
pubmed: 22751495
J Allergy Clin Immunol. 2018 May;141(5):1818-1830.e2
pubmed: 28826773
J Immunol. 2017 Dec 15;199(12):4036-4045
pubmed: 29127144
Eur J Biochem. 2002 Jun;269(11):2716-26
pubmed: 12047380
J Immunol. 2008 Jan 1;180(1):647-54
pubmed: 18097067
J Allergy Clin Immunol. 2015 Aug;136(2):402-12
pubmed: 25724123
Nature. 1993 May 27;363(6427):361-4
pubmed: 8497320
Sci Immunol. 2018 Jun 15;3(24):
pubmed: 29907690
J Biol Chem. 2010 Jul 9;285(28):21214-8
pubmed: 20489211
Eur J Immunol. 2009 Aug;39(8):2076-82
pubmed: 19672903
Clin Immunol. 2014 Jan;150(1):43-50
pubmed: 24333532
Blood. 2011 Sep 8;118(10):2752-62
pubmed: 21791427
Nat Immunol. 2015 May;16(5):448-57
pubmed: 25898198
Am J Hum Genet. 2011 Jul 15;89(1):67-81
pubmed: 21741611
N Engl J Med. 2007 Oct 18;357(16):1608-19
pubmed: 17881745
Mol Immunol. 2017 Oct;90:57-63
pubmed: 28704707
Eur J Immunol. 2011 Jan;41(1):47-59
pubmed: 21182076
J Exp Med. 2017 Mar 6;214(3):669-680
pubmed: 28126831
J Allergy Clin Immunol. 2017 Mar;139(3):933-949
pubmed: 27554822
J Allergy Clin Immunol. 2017 Jul;140(1):273-277.e10
pubmed: 27965109
J Exp Med. 1998 Nov 16;188(10):1955-65
pubmed: 9815272
N Engl J Med. 1999 Mar 4;340(9):692-702
pubmed: 10053178
Nature. 2007 Jul 26;448(7152):484-487
pubmed: 17581588
J Infect Dis. 1997 Aug;176(2):439-44
pubmed: 9237710
Annu Rev Immunol. 2015;33:417-43
pubmed: 25861977
J Exp Med. 2008 Jul 7;205(7):1551-7
pubmed: 18591410
J Immunol. 2008 Mar 1;180(5):2903-11
pubmed: 18292512
Nat Immunol. 2007 Jun;8(6):639-46
pubmed: 17486092
Nature. 1993 Sep 2;365(6441):27-32
pubmed: 8361533
J Immunol. 2008 Mar 1;180(5):2752-6
pubmed: 18292493
Blood. 2012 Apr 26;119(17):3997-4008
pubmed: 22403255

Auteurs

Tala Shahin (T)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

Dominik Aschenbrenner (D)

Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK.

Deniz Cagdas (D)

Section of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.
Institute of Child Health, Hacettepe University, Ankara, Turkey.

Sevgi Köstel Bal (SK)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Department of Pediatric Allergy and Immunology, Ankara University School of Medicine, Cebeci, Turkey.

Cecilia Domínguez Conde (CD)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

Wojciech Garncarz (W)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

David Medgyesi (D)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.

Tobias Schwerd (T)

Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK.
Dr. von Hauner Children's Hospital, Ludwig-Maximilians-University of Munich, Germany.

Betül Karaatmaca (B)

Section of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.

Pınar Gur Cetinkaya (PG)

Section of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.

Saliha Esenboga (S)

Section of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.

Stephen R F Twigg (SRF)

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK.

Andrew Cant (A)

Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne, UK.

Andrew O M Wilkie (AOM)

Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford, UK.

Ilhan Tezcan (I)

Section of Pediatric Immunology, Ihsan Doğramacı Children's Hospital, Hacettepe University, Ankara, Turkey.
Institute of Child Health, Hacettepe University, Ankara, Turkey.

Holm H Uhlig (HH)

Translational Gastroenterology Unit, John Radcliffe Hospital, University of Oxford, UK kaan.boztug@rud.lbg.ac.at holm.uhlig@ndm.ox.ac.uk.
Department of Paediatrics, University of Oxford, UK.

Kaan Boztug (K)

Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases, Vienna, Austria kaan.boztug@rud.lbg.ac.at holm.uhlig@ndm.ox.ac.uk.
CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences, Vienna, Austria.
Department of Pediatrics and Adolescent Medicine, Medical University of Vienna, Austria.
St. Anna Kinderspital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Austria.

Articles similaires

[Redispensing of expensive oral anticancer medicines: a practical application].

Lisanne N van Merendonk, Kübra Akgöl, Bastiaan Nuijen
1.00
Humans Antineoplastic Agents Administration, Oral Drug Costs Counterfeit Drugs

Smoking Cessation and Incident Cardiovascular Disease.

Jun Hwan Cho, Seung Yong Shin, Hoseob Kim et al.
1.00
Humans Male Smoking Cessation Cardiovascular Diseases Female

Evaluation of Low-Value Services Across Major Medicare Advantage Insurers and Traditional Medicare.

Ciara Duggan, Adam L Beckman, Ishani Ganguli et al.
1.00
Humans United States Aged Cross-Sectional Studies Medicare Part C

Effectiveness of Virtual Yoga for Chronic Low Back Pain: A Randomized Clinical Trial.

Hallie Tankha, Devyn Gaskins, Amanda Shallcross et al.
1.00
Humans Yoga Low Back Pain Female Male

Classifications MeSH

questionsmedicales.fr › Facteurs biologiques › Marqueurs biologiques › Selective loss of function variants in
questionsmedicales.fr › Phénomènes physiologiques cellulaires › Différenciation cellulaire › Selective loss of function variants in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Selective loss of function variants in
questionsmedicales.fr › Personnes › Tranches d'âge › Enfant › Enfant d'âge préscolaire › Selective loss of function variants in
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines membranaires › Récepteurs de surface cellulaire › Récepteurs peptidiques › Récepteur facteur croissance › Récepteurs facteur croissance nerf › Récepteur facteur neurotrophique ciliaire › Récepteur gp130 de cytokines › Selective loss of function variants in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Analyse de mutations d'ADN › Selective loss of function variants in
questionsmedicales.fr › Phénomènes physiologiques › Constitution physique › Prédisposition aux maladies › Selective loss of function variants in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Études d'associations génétiques › Selective loss of function variants in
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Selective loss of function variants in
questionsmedicales.fr › Techniques d'investigation › Techniques immunologiques › Tests immunologiques › Immunophénotypage › Selective loss of function variants in
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Syndrome de Job › Selective loss of function variants in
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Mutation perte de fonction › Selective loss of function variants in
questionsmedicales.fr › Phénomènes du système immunitaire › Activation des lymphocytes › Selective loss of function variants in
questionsmedicales.fr › Techniques d'investigation › Modèles théoriques › Modèles moléculaires › Selective loss of function variants in
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Pedigree › Selective loss of function variants in
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Selective loss of function variants in
questionsmedicales.fr › Phénomènes chimiques › Phénomènes biochimiques › Conformation moléculaire › Conformation des protéines › Selective loss of function variants in
questionsmedicales.fr › Diagnostic › Techniques et procédures diagnostiques › Imagerie diagnostique › Radiographie › Selective loss of function variants in
questionsmedicales.fr › Systèmes sanguin et immunitaire › Système immunitaire › Leucocytes › Agranulocytes › Lymphocytes › Lymphocytes T › Sous-populations de lymphocytes T › Selective loss of function variants in