A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity
Heterozygosity for human ( ) 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 is a transcriptio...
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| Published in | Science immunology Vol. 3; no. 24 |
|---|---|
| Main Authors | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
United States
15.06.2018
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| Subjects | |
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| Abstract | Heterozygosity for human
(
) 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 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the
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
DN mutations, ZNF341-deficient patients lack T helper 17 (T
17) cells, have an excess of T
2 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
transcription-dependent autoinduction and sustained activity of STAT3. |
|---|---|
| AbstractList | Heterozygosity for human
(
) 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 is a transcription factor that resides in the nucleus, where it binds a specific DNA motif present in various genes, including the
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
DN mutations, ZNF341-deficient patients lack T helper 17 (T
17) cells, have an excess of T
2 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
transcription-dependent autoinduction and sustained activity of STAT3. |
| Author | Pillay, Bethany Zoghi, Samaneh Keles, Sevgi Di Santo, James P Chaussabel, Damien Ozen, Ahmet Habib, Tanwir Payne, Kathryn Hovnanian, Alain Chandesris, Marie-Olivia Béziat, Vivien Li, Peng Boisson, Bertrand Fraitag, Sylvie Marr, Nico Wargon, Orli Bustamante, Jacinta Bousfiha, Aziz Lim, Ai Ing El-Benna, Jamel Ailal, Fatima Meyts, Isabelle Guery, Romain Baris, Safa Pelham, Simon J About, Frédégonde Pellier, Isabelle Ma, Cindy S Bouaziz, Matthieu Alyanakian, Marie-Alexandra Du, Ning Zerbib, Yoann Lin, Jian-Xin Avery, Danielle T Fleckenstein, Bernhard Chatila, Talal A Rezaei, Nima Guérin, Antoine Müller-Fleckenstein, Ingrid Chou, Janet Migaud, Mélanie Belkadi, Aziz Tangye, Stuart G Leruez-Ville, Marianne Titeux, Matthias Deenick, Elissa K Rattina, Vimel Leonard, Warren J Lévy, Romain Gray, Paul Li, Juan Puel, Anne Wang, Yi Grimbacher, Bodo Leclercq, Thibaut Somer, Ayper Benhsaien, Ibtihal Abel, Laurent Casanova, Jean-Laurent Rao, Geetha Picard, Capucine |
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givenname: Anne orcidid: 0000-0003-2603-0323 surname: Puel fullname: Puel, Anne email: anne.puel@inserm.fr, jean-laurent.casanova@rockefeller.edu, vivien.beziat@inserm.fr organization: St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY 10065, USA – sequence: 61 givenname: Jean-Laurent orcidid: 0000-0002-7782-4169 surname: Casanova fullname: Casanova, Jean-Laurent email: anne.puel@inserm.fr, jean-laurent.casanova@rockefeller.edu, vivien.beziat@inserm.fr organization: Howard Hughes Medical Institute, New York, NY 10065, USA |
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| Copyright | Copyright © 2018 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. |
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| PublicationDateYYYYMMDD | 2018-06-15 |
| PublicationDate_xml | – month: 6 year: 2018 text: 20180615 day: 15 |
| PublicationDecade | 2010 |
| PublicationPlace | United States |
| PublicationPlace_xml | – name: United States |
| PublicationTitle | Science immunology |
| PublicationTitleAlternate | Sci Immunol |
| PublicationYear | 2018 |
| References | 29907692 - Sci Immunol. 2018 Jun 15;3(24):eaat9779. doi: 10.1126/sciimmunol.aat9779. |
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| Snippet | Heterozygosity for human
(
) dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-immunoglobulin E syndrome (HIES). We describe... |
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| SubjectTerms | Adolescent Adult Cell Differentiation - genetics Cell Differentiation - immunology Cell Nucleus - metabolism Consanguinity Cytokines - immunology Cytokines - metabolism Exome Sequencing Exons - genetics Female Gene Expression Regulation - immunology Genes, Recessive - genetics Genes, Recessive - immunology Homozygote Humans Immunoglobulin E - blood Immunoglobulin E - immunology Job Syndrome - blood Job Syndrome - genetics Job Syndrome - immunology Loss of Function Mutation Lymphocyte Count Male Middle Aged Pedigree Promoter Regions, Genetic - genetics RNA, Messenger - metabolism STAT3 Transcription Factor - genetics STAT3 Transcription Factor - immunology STAT3 Transcription Factor - metabolism Th17 Cells - immunology Th17 Cells - metabolism Th2 Cells - immunology Th2 Cells - metabolism Transcription Factors - genetics Transcription Factors - immunology Transcription Factors - metabolism Transcription, Genetic - immunology Young Adult Zinc Fingers - genetics |
| Title | A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity |
| URI | https://www.ncbi.nlm.nih.gov/pubmed/29907691 |
| Volume | 3 |
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