Inherited human ZNF341 deficiency.

Vivien Béziat, Claire Fieschi, Mana Momenilandi, Mélanie Migaud, Brahim Belaid, Reda Djidjik, Anne Puel

Journal: Current opinion in immunology 2023;82():102326

PMID: 37080116

Free Full Text on Elsevier Science View on PubMed

Abstract

["Typical hyper-IgE syndromes (HIES) are caused by autosomal-dominant-negative (DN) variants of STAT3 (Signal Transducer And Activator Of Transcription 3) or IL6ST (Interleukin 6 Cytokine Family Signal Transducer), biallelic partial loss-of-function (LOF) variants of IL6ST, or biallelic complete LOF variants of ZNF341 (Zinc Finger Protein 341). Including the two new cases described in this review, only 20 patients with autosomal-recessive (AR) ZNF341 deficiency have ever been reported. Patients with AR ZNF341 deficiency have clinical and immunological phenotypes resembling those of patients with autosomal-dominant STAT3 deficiency, but with a usually milder clinical presentation and lower NK (Natural Killer) cell counts. ZNF341-deficient cells have 50% the normal level of STAT3 in the resting state. However, as there is no clear evidence that STAT3 haploinsufficiency causes HIES, this decrease alone is probably insufficient to explain the HIES phenotype observed in the ZNF341-deficient patients. The combination of decreased basal expression level and impaired autoinduction of STAT3 observed in ZNF341-deficient lymphocytes is considered a more likely pathophysiological mechanism. We review here what is currently known about the ZNF341 gene and ZNF341 deficiency, and briefly discuss possible roles for this protein in addition to its control of STAT3 activity.",{"copyright":"Copyright \u00a9 2023 The Authors. Published by Elsevier Ltd.. All rights reserved."}]

Address: Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris Cité, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. Electronic address: [email protected].; Clinical Immunology Department, Saint Louis Hospital, AP-HP de Paris University of Paris, Paris, France; Department of Clinical Immunology, University of Paris Cité, Assistance Publique Hôpitaux de Paris (AP-HP), Saint-Louis Hospital, Paris, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris Cité, Imagine Institute, Paris, France.; Department of Medical Immunology, Beni-Messous University Hospital Center, Algiers, Algeria; Faculty of Pharmacy, Benyoucef Benkhedda University of Algiers 1, Algiers, Algeria.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, Paris, France; University of Paris Cité, Imagine Institute, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA. Electronic address: [email protected].

DOI: 10.1016/j.coi.2023.102326