A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Vivien Beziat
(1)
,
Juan Li
(2)
,
Jian-Xin Lin
(3)
,
Cindy Ma
(4, 5)
,
Peng Li
(3)
,
Aziz Bousfiha
(6, 7)
,
Isabelle Pellier
(8)
,
Samaneh Zoghi
(9, 10)
,
Safa Baris
(11)
,
Sevgi Keles
(12)
,
Paul Gray
(5)
,
Ning Du
(3)
,
Yi Wang
(1)
,
Yoann Zerbib
(1)
,
Romain Levy
(1)
,
Thibaut Leclercq
(1)
,
Frédégonde About
(1)
,
Ai Ing Lim
(13)
,
Geetha Rao
(4)
,
Kathryn Payne
(4)
,
Simon Pelham
(4, 5)
,
Danielle Avery
(4)
,
Elissa Deenick
(4, 5)
,
Bethany Pillay
(4, 5)
,
Janet Chou
(14, 15)
,
Romain Guery
(16, 1)
,
Aziz Belkadi
(1)
,
Antoine Guerin
(1)
,
Melanie Migaud
(1)
,
Vimel Rattina
(1)
,
Fatima Ailal
(6, 7)
,
Ibtihal Benhsaien
(6, 7)
,
Matthieu Bouaziz
(1)
,
Tanwir Habib
(17)
,
Damien Chaussabel
(17)
,
Nico Marr
(17)
,
Jamel El-Benna
(18)
,
Bodo Grimbacher
(19)
,
Orli Wargon
(20)
,
Jacinta Bustamante
(1, 2, 21)
,
Bertrand Boisson
(2, 1)
,
Ingrid Müller-Fleckenstein
(22)
,
Bernhard Fleckenstein
(22)
,
Marie-Olivia Chandesris
(21)
,
Matthias Titeux
(1, 23)
,
Sylvie Fraitag
(24)
,
Marie-Alexandra Alyanakian
(25)
,
Marianne Leruez-Ville
(26, 27)
,
Capucine Picard
(28, 1, 27, 25)
,
Isabelle Meyts
(29, 30)
,
James P Di Santo
(13)
,
Alain Hovnanian
(1, 23, 31)
,
Ayper Somer
(32)
,
Ahmet Ozen
(11)
,
Nima Rezaei
(33, 34, 10)
,
Talal Chatila
(15, 14)
,
Laurent Abel
(1, 2)
,
Warren Leonard
(3)
,
Stuart G. Tangye
(4, 35)
,
Anne Puel
(1, 2)
,
Jean-Laurent Casanova
(1, 2, 36, 25)
1
IMAGINE - U1163 -
Imagine - Institut des maladies génétiques
2 Rockefeller University [New York]
3 NIH - National Institutes of Health [Bethesda, MD, USA]
4 Garvan Institute of medical research
5 UNSW - University of New South Wales [Sydney]
6 CHU Ibn Rochd [Casablanca]
7 UH2MC - Université Hassan II [Casablanca]
8 Service d'Immuno-Hémato-Oncologie Pédiatrique
9 SBUMS - Shahid Beheshti University of Medical Sciences [Tehran]
10 Universal Scientific Education and Research Network (USERN)
11 Marmara University [Kadıköy - İstanbul]
12 Necmettin Erbakan University [Konya, Turquie]
13 Immunité Innée - Innate Immunity
14 HMS - Harvard Medical School [Boston]
15 Boston Children's Hospital
16 Centre d'infectiologie Necker-Pasteur [CHU Necker]
17 Sidra Medicine [Doha, Qatar]
18 CRI (UMR_S_1149 / ERL_8252 / U1149) - Centre de recherche sur l'Inflammation
19 Uniklinik - Universitäts Klinikum Freiburg = University Medical Center Freiburg
20 Sydney Children's hospital
21 CEREDIH - Centre de Référence Déficits Immunitaires Héréditaires
22 FAU - Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg
23 Equipe Inserm U1163 - Genetic skin diseases : from disease mechanism to therapies
24 Service de pathologie [CHU Necker]
25 Service d'immuno-hématologie pédiatrique [CHU Necker]
26 Laboratoire de Virologie [CHU Necker]
27 UPD5 - Université Paris Descartes - Paris 5
28 Centre d'étude des Déficits Immunitaires
29 University Hospitals Leuven [Leuven]
30 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
31 Hôpital Necker - Enfants Malades [AP-HP]
32 Istanbul University
33 Research Center for Immunodeficiencies [Tehran, Iran]
34 TUMS - Tehran University of Medical Sciences
35 UNSW - University of New South Wales [Canberra Campus]
36 HHMI - Howard Hughes Medical Institute [New York]
2 Rockefeller University [New York]
3 NIH - National Institutes of Health [Bethesda, MD, USA]
4 Garvan Institute of medical research
5 UNSW - University of New South Wales [Sydney]
6 CHU Ibn Rochd [Casablanca]
7 UH2MC - Université Hassan II [Casablanca]
8 Service d'Immuno-Hémato-Oncologie Pédiatrique
9 SBUMS - Shahid Beheshti University of Medical Sciences [Tehran]
10 Universal Scientific Education and Research Network (USERN)
11 Marmara University [Kadıköy - İstanbul]
12 Necmettin Erbakan University [Konya, Turquie]
13 Immunité Innée - Innate Immunity
14 HMS - Harvard Medical School [Boston]
15 Boston Children's Hospital
16 Centre d'infectiologie Necker-Pasteur [CHU Necker]
17 Sidra Medicine [Doha, Qatar]
18 CRI (UMR_S_1149 / ERL_8252 / U1149) - Centre de recherche sur l'Inflammation
19 Uniklinik - Universitäts Klinikum Freiburg = University Medical Center Freiburg
20 Sydney Children's hospital
21 CEREDIH - Centre de Référence Déficits Immunitaires Héréditaires
22 FAU - Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg
23 Equipe Inserm U1163 - Genetic skin diseases : from disease mechanism to therapies
24 Service de pathologie [CHU Necker]
25 Service d'immuno-hématologie pédiatrique [CHU Necker]
26 Laboratoire de Virologie [CHU Necker]
27 UPD5 - Université Paris Descartes - Paris 5
28 Centre d'étude des Déficits Immunitaires
29 University Hospitals Leuven [Leuven]
30 KU Leuven - Catholic University of Leuven = Katholieke Universiteit Leuven
31 Hôpital Necker - Enfants Malades [AP-HP]
32 Istanbul University
33 Research Center for Immunodeficiencies [Tehran, Iran]
34 TUMS - Tehran University of Medical Sciences
35 UNSW - University of New South Wales [Canberra Campus]
36 HHMI - Howard Hughes Medical Institute [New York]
Vivien Beziat
Connectez-vous pour contacter l'auteur
- Fonction : Auteur correspondant
- PersonId : 1060114
Connectez-vous pour contacter l'auteur
Cindy Ma
- Fonction : Auteur
- PersonId : 794453
- ORCID : 0000-0001-5387-8413
Peng Li
- Fonction : Auteur
- PersonId : 1256345
- ORCID : 0000-0001-8487-9515
- IdRef : 270047093
Aziz Bousfiha
- Fonction : Auteur
- PersonId : 798775
- ORCID : 0000-0002-5011-9873
Safa Baris
- Fonction : Auteur
- PersonId : 797537
- ORCID : 0000-0002-4730-9422
Sevgi Keles
- Fonction : Auteur
- PersonId : 779159
- ORCID : 0000-0001-7344-8947
Paul Gray
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- PersonId : 798776
- ORCID : 0000-0003-2057-3968
Simon Pelham
- Fonction : Auteur
- PersonId : 798777
- ORCID : 0000-0002-3119-662X
Bethany Pillay
- Fonction : Auteur
- PersonId : 798778
- ORCID : 0000-0001-7964-544X
Romain Guery
- Fonction : Auteur
- PersonId : 1026879
Fatima Ailal
- Fonction : Auteur
- PersonId : 765429
- ORCID : 0000-0001-5824-3193
Ibtihal Benhsaien
- Fonction : Auteur
- PersonId : 798779
- ORCID : 0000-0001-5727-9629
Damien Chaussabel
- Fonction : Auteur
- PersonId : 761494
- ORCID : 0000-0002-6131-7242
Nico Marr
- Fonction : Auteur
- PersonId : 762966
- ORCID : 0000-0002-1927-7072
Jamel El-Benna
- Fonction : Auteur
- PersonId : 739956
- IdHAL : jamel-el-benna
- ORCID : 0000-0001-5733-216X
- IdRef : 130373249
Jacinta Bustamante
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- PersonId : 757899
- ORCID : 0000-0002-3439-2482
- IdRef : 124593461
Bertrand Boisson
- Fonction : Auteur
- PersonId : 757762
- ORCID : 0000-0001-5240-3555
- IdRef : 08188317X
Capucine Picard
- Fonction : Auteur
- PersonId : 758297
- ORCID : 0000-0001-8788-5056
- IdRef : 091572363
Isabelle Meyts
- Fonction : Auteur
- PersonId : 782528
- ORCID : 0000-0003-1214-0302
James P Di Santo
- Fonction : Auteur
- PersonId : 766326
- ORCID : 0000-0002-7146-1862
- IdRef : 074625594
Alain Hovnanian
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- PersonId : 760027
- ORCID : 0000-0003-3412-7512
- IdRef : 069491070
Laurent Abel
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- PersonId : 756191
- ORCID : 0000-0001-7016-6493
- IdRef : 07779432X
Résumé
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-immunoglobulin E syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341 ZNF341 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the STAT3 promoter. The patients' cells have low basal levels of STAT3 mRNA and protein. The autoinduction of STAT3 production, activation, and function by STAT3-activating cytokines is strongly impaired. Like patients with STAT3 DN mutations, ZNF341-deficient patients lack T helper 17 (TH17) cells, have an excess of TH2 cells, and have low memory B cells due to the tight dependence of STAT3 activity on ZNF341 in lymphocytes. Their milder extra-hematopoietic manifestations and stronger inflammatory responses reflect the lower ZNF341 dependence of STAT3 activity in other cell types. Human ZNF341 is essential for the STAT3 transcription-dependent autoinduction and sustained activity of STAT3.
Domaines
ImmunologieFormat du dépôt | Notice |
---|---|
Type de dépôt | Article dans une revue |
Résumé |
en
Heterozygosity for human signal transducer and activator of transcription 3 (STAT3) dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-immunoglobulin E syndrome (HIES). We describe patients with an autosomal recessive form of HIES due to loss-of-function mutations of a previously uncharacterized gene, ZNF341 ZNF341 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the STAT3 promoter. The patients' cells have low basal levels of STAT3 mRNA and protein. The autoinduction of STAT3 production, activation, and function by STAT3-activating cytokines is strongly impaired. Like patients with STAT3 DN mutations, ZNF341-deficient patients lack T helper 17 (TH17) cells, have an excess of TH2 cells, and have low memory B cells due to the tight dependence of STAT3 activity on ZNF341 in lymphocytes. Their milder extra-hematopoietic manifestations and stronger inflammatory responses reflect the lower ZNF341 dependence of STAT3 activity in other cell types. Human ZNF341 is essential for the STAT3 transcription-dependent autoinduction and sustained activity of STAT3.
|
Titre |
en
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
|
Auteur(s) |
Vivien Beziat
1
, Juan Li
2
, Jian-Xin Lin
3
, Cindy Ma
4, 5
, Peng Li
3
, Aziz Bousfiha
6, 7
, Isabelle Pellier
8
, Samaneh Zoghi
9, 10
, Safa Baris
11
, Sevgi Keles
12
, Paul Gray
5
, Ning Du
3
, Yi Wang
1
, Yoann Zerbib
1
, Romain Levy
1
, Thibaut Leclercq
1
, Frédégonde About
1
, Ai Ing Lim
13
, Geetha Rao
4
, Kathryn Payne
4
, Simon Pelham
4, 5
, Danielle Avery
4
, Elissa Deenick
4, 5
, Bethany Pillay
4, 5
, Janet Chou
14, 15
, Romain Guery
16, 1
, Aziz Belkadi
1
, Antoine Guerin
1
, Melanie Migaud
1
, Vimel Rattina
1
, Fatima Ailal
6, 7
, Ibtihal Benhsaien
6, 7
, Matthieu Bouaziz
1
, Tanwir Habib
17
, Damien Chaussabel
17
, Nico Marr
17
, Jamel El-Benna
18
, Bodo Grimbacher
19
, Orli Wargon
20
, Jacinta Bustamante
1, 2, 21
, Bertrand Boisson
2, 1
, Ingrid Müller-Fleckenstein
22
, Bernhard Fleckenstein
22
, Marie-Olivia Chandesris
21
, Matthias Titeux
1, 23
, Sylvie Fraitag
24
, Marie-Alexandra Alyanakian
25
, Marianne Leruez-Ville
26, 27
, Capucine Picard
28, 1, 27, 25
, Isabelle Meyts
29, 30
, James P Di Santo
13
, Alain Hovnanian
1, 23, 31
, Ayper Somer
32
, Ahmet Ozen
11
, Nima Rezaei
33, 34, 10
, Talal Chatila
15, 14
, Laurent Abel
1, 2
, Warren Leonard
3
, Stuart G. Tangye
4, 35
, Anne Puel
1, 2
, Jean-Laurent Casanova
1, 2, 36, 25
1
IMAGINE - U1163 -
Imagine - Institut des maladies génétiques
( 247401 )
- IHU Imagine,
156 rue de Vaugirard, 75015 PARIS
et
24 Boulevard du Montparnasse, 75015 Paris
- France
2
Rockefeller University [New York]
( 307157 )
- 1230 York Ave, New York, NY 10065, États-Unis
- États-Unis
3
NIH -
National Institutes of Health [Bethesda, MD, USA]
( 1182789 )
- 9000 Rockville Pike, Bethesda, Maryland 20892, USA
- États-Unis
4
Garvan Institute of medical research
( 471053 )
- Darlinghurst, New South Wales 2010
- Australie
5
UNSW -
University of New South Wales [Sydney]
( 74661 )
- High St
Kensington, Sydney, NSW 2052
- Australie
6
CHU Ibn Rochd [Casablanca]
( 328929 )
- Rue Lahcen El Arjoun, Casablanca, Maroc
- Maroc
7
UH2MC -
Université Hassan II [Casablanca]
( 233036 )
- Université Hassan II Mohammedia - Casablanca 20000, Maroc
- Maroc
8
Service d'Immuno-Hémato-Oncologie Pédiatrique
( 236799 )
- 4 rue Larrey, 49933 Angers Cedex 09
- France
9
SBUMS -
Shahid Beheshti University of Medical Sciences [Tehran]
( 570665 )
- Avenue Shahid Arabi, Boulevard Daneshjou, Velenjak, Téhéran, Iran
- Iran
10
Universal Scientific Education and Research Network (USERN)
( 475722 )
- Tehran
- Iran
11
Marmara University [Kadıköy - İstanbul]
( 466869 )
- MÜ Göztepe Kampüsü, 34722 Kadıköy/İstanbul, Turquey
- Turquie
12
Necmettin Erbakan University [Konya, Turquie]
( 575903 )
- Necmettin Erbakan Üniversitesi Rektörlüğü -
Yaka Mah. Kasım Halife Sok. , 42090 Meram / KONYA
- Turquie
13
Immunité Innée - Innate Immunity
( 130822 )
- Département d'Immunologie, 25-28 rue du Docteur Roux, 75724 Paris Cedex 15
- France
14
HMS -
Harvard Medical School [Boston]
( 130467 )
- 25 Shattuck Street Boston, MA 02115
- États-Unis
15
Boston Children's Hospital
( 575907 )
- 300 Longwood Avenue,
Boston, MA 02115
- États-Unis
16
Centre d'infectiologie Necker-Pasteur [CHU Necker]
( 181780 )
- Service des Maladies infectieuses et Tropicales
Bâtiment Jean Hamburger
149 rue de Sèvres
75015 Paris
- France
17
Sidra Medicine [Doha, Qatar]
( 534573 )
- Al Gharrafa Street, Ar-Rayyan, Doha
- Qatar
18
CRI (UMR_S_1149 / ERL_8252 / U1149) -
Centre de recherche sur l'Inflammation
( 246564 )
- Faculté de Médecine site Bichat - 16, Rue Henri Huchard - BP 416/4ème étage - 75870 Paris Cedex 18
- France
19
Uniklinik -
Universitäts Klinikum Freiburg = University Medical Center Freiburg
( 301832 )
- Main Clinical Campus,
Hugstetter Straße 55,
79106 Freiburg
- Allemagne
20
Sydney Children's hospital
( 458436 )
- High St, Randwick NSW 2031, Australie
- Australie
21
CEREDIH -
Centre de Référence Déficits Immunitaires Héréditaires
( 80990 )
- 149, rue de Sevres 75015 PARIS
- France
22
FAU -
Friedrich-Alexander Universität Erlangen-Nürnberg = University of Erlangen-Nuremberg
( 311714 )
- Schlossplatz 4, 91054 Erlangen, Germany
- Allemagne
23
Equipe Inserm U1163 -
Genetic skin diseases : from disease mechanism to therapies
( 530791 )
- Institut Imagine, 24 Boulevard du Montparnasse, 75015 Paris
- France
24
Service de pathologie [CHU Necker]
( 458686 )
- France
25
Service d'immuno-hématologie pédiatrique [CHU Necker]
( 19365 )
- 149 Rue de Sèvres, 75015 Paris
- France
26
Laboratoire de Virologie [CHU Necker]
( 59545 )
- 149, rue de Sèvres 75743 PARIS Cedex 15
- France
27
UPD5 -
Université Paris Descartes - Paris 5
( 301664 )
- 12, rue de l'École de Médecine - 75270 Paris cedex 06
- France
28
Centre d'étude des Déficits Immunitaires
( 109071 )
- Pavillon Kirmisson, Paris
- France
29
University Hospitals Leuven [Leuven]
( 327452 )
- Herestraat 49, 3000 Leuven
- Belgique
30
KU Leuven -
Catholic University of Leuven = Katholieke Universiteit Leuven
( 300656 )
- Oude Markt 13 - bus 5005, 3000 Leuven
- Belgique
31
Hôpital Necker - Enfants Malades [AP-HP]
( 414766 )
- 149 Rue de Sèvres 75015 Paris
- France
32
Istanbul University
( 495165 )
- Istanbul University Main Campus
34452 Beyazit/Fatih-Istanbul
- Turquie
33
Research Center for Immunodeficiencies [Tehran, Iran]
( 475813 )
- Children’s Medical Center - Tehran Province, Tehran, District 6, Pour Sina St
- Iran
34
TUMS -
Tehran University of Medical Sciences
( 478284 )
- Central Building of Tehran University of Medical Sciences: No. 226, Qods St., Keshavarz Blvd., Tehran, Iran
- Iran
35
UNSW -
University of New South Wales [Canberra Campus]
( 469323 )
- UNSW Australia at the Australian Defence Force Academy
Northcott Drive,
Canberra ACT 2600
- Australie
36
HHMI -
Howard Hughes Medical Institute [New York]
( 566781 )
- États-Unis
|
Langue du document |
Anglais
|
Nom de la revue |
|
Vulgarisation |
Non
|
Comité de lecture |
Oui
|
Audience |
Internationale
|
Date de publication |
2018-06-15
|
Volume |
3
|
Numéro |
24
|
Page/Identifiant |
eaat4956
|
Commentaire |
Comment in :
Who regulates whom: ZNF341 is an additional player in the STAT3/TH17 song. [Sci Immunol. 2018]
|
Collaboration/Projet |
|
Financement |
|
Domaine(s) |
|
Mots-clés (Mesh) |
|
DOI | 10.1126/sciimmunol.aat4956 |
Pubmed Id | 29907691 |
PubMed Central | PMC6141026 |
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