Genomics

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Human ZNF341 deficiency underlies a recessive form of hyper IgE syndrome by disrupting STAT3 transcription-dependent STAT3 activity


ABSTRACT: Heterozygosity for human STAT3 dominant-negative (DN) mutations underlies an autosomal dominant form of hyper-IgE 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, most notably the STAT3 promoter. The patients’ cells have low basal levels of STAT3 mRNA and protein. The auto-induction of STAT3 production, activation, and function by STAT3-activating cytokines is particularly strongly impaired. Like patients with STAT3 DN mutations, ZNF341-deficient patients lack Th17 cells, have an excess of Th2 cells, and 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 auto-induction and sustained activity of STAT3. Overall design: Total of 11 samples were analyzed from two micorarray platforms (Clariom S Human and HuGene2_0). Clariom S human array was used for 5 samples and HuGene was used for 6 T cell samples. Out of 5 samples from Clariom array, 3 were control samples with Beads with IL-6 stimulation, and 2 patients (P4 and P7) with Beads with IL-6 stimulation. Out of 6 samples from HuGene array, 4 were control samples and two patients (P4 and P7).

INSTRUMENT(S): [HuGene-2_0-st] Affymetrix Human Gene 2.0 ST Array [transcript (gene) version]

ORGANISM(S): Homo Sapiens

SUBMITTER: Tanwir Habib 

PROVIDER: GSE113945 | GEO | 2018-06-04

REPOSITORIES: GEO

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A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.

Béziat Vivien V   Li Juan J   Lin Jian-Xin JX   Ma Cindy S CS   Li Peng P   Bousfiha Aziz A   Pellier Isabelle I   Zoghi Samaneh S   Baris Safa S   Keles Sevgi S   Gray Paul P   Du Ning N   Wang Yi Y   Zerbib Yoann Y   Lévy Romain R   Leclercq Thibaut T   About Frédégonde F   Lim Ai Ing AI   Rao Geetha G   Payne Kathryn K   Pelham Simon J SJ   Avery Danielle T DT   Deenick Elissa K EK   Pillay Bethany B   Chou Janet J   Guery Romain R   Belkadi Aziz A   Guérin Antoine A   Migaud Mélanie M   Rattina Vimel V   Ailal Fatima F   Benhsaien Ibtihal I   Bouaziz Matthieu M   Habib Tanwir T   Chaussabel Damien D   Marr Nico N   El-Benna Jamel J   Grimbacher Bodo B   Wargon Orli O   Bustamante Jacinta J   Boisson Bertrand B   Müller-Fleckenstein Ingrid I   Fleckenstein Bernhard B   Chandesris Marie-Olivia MO   Titeux Matthias M   Fraitag Sylvie S   Alyanakian Marie-Alexandra MA   Leruez-Ville Marianne M   Picard Capucine C   Meyts Isabelle I   Di Santo James P JP   Hovnanian Alain A   Somer Ayper A   Ozen Ahmet A   Rezaei Nima N   Chatila Talal A TA   Abel Laurent L   Leonard Warren J WJ   Tangye Stuart G SG   Puel Anne A   Casanova Jean-Laurent JL  

Science immunology 20180601 24


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 pati  ...[more]

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