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Journal of Clinical Immunology

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01-08-2021 | Craniosynostosis | Letter to Editor

The Seven STAT3-Related Hyper-IgE Syndromes

Authors: Ilham Fadil, Meriem Ben-Ali, Leila Jeddane, Mohamed-Ridha Barbouche, Ahmed Aziz Bousfiha

Published in: Journal of Clinical Immunology | Issue 6/2021

Excerpt

To the Editor: …

Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24–64.CrossRef

Bousfiha A, Jeddane L, Picard C, Al-Herz W, Ailal F, Chatila T, et al. Human inborn errors of immunity: 2019 update of the IUIS phenotypical classification. J Clin Immunol. 2020;40(1):66–81.CrossRef

Ponsford MJ, Klocperk A, Pulvirenti F, Dalm VASH, Milota T, Cinetto F, et al. Hyper-IgE in the allergy clinic–when is it primary immunodeficiency? Allergy. 2018;73(11):2122–36.CrossRef

Lyons JJ, Milner JD. Primary atopic disorders. J Exp Med. 2018;215(4):1009–22.CrossRef

Minegishi Y, Saito M, Tsuchiya S, Tsuge I, Takada H, Hara T, et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 2007;448(7157):1058–62.CrossRef

Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007;357(16):1608–19.CrossRef

Yong PF, Freeman AF, Engelhardt KR, Holland S, Puck JM, Grimbacher B. An update on the hyper-IgE syndromes. Arthritis Res Ther. 2012;14(6):228.CrossRef

Keupp K, Li Y, Vargel I, Hoischen A, Richardson R, Neveling K, et al. Mutations in the interleukin receptor IL 11 RA cause autosomal recessive Crouzon-like craniosynostosis. Mol Genet Genomic Med. 2013;1(4):223–37.CrossRef

Sassi A, Lazaroski S, Wu G, Haslam SM, Fliegauf M, Mellouli F, et al. Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels. J Allergy Clin Immunol. 2014;133(5):1410-1419.e13.CrossRef

10.

Zhang Y, Yu X, Ichikawa M, Lyons JJ, Datta S, Lamborn IT, et al. Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment. J Allergy Clin Immunol. 2014;133(5):1400-1409.e5.CrossRef

11.

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, et al. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014;95(1):96–107.CrossRef

12.

Ben-Ali M, Ben-Khemis L, Mekki N, Yaakoubi R, Ouni R, Benabdessalem C, et al. Defective glycosylation leads to defective gp130-dependent STAT3 signaling in PGM3-deficient patients. J Allergy Clin Immunol. 2019;143(4):1638-1640.e2.CrossRef

13.

Schwerd T, Twigg SRF, Aschenbrenner D, Manrique S, Miller KA, Taylor IB, et al. A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis. J Exp Med. 2017;214(9):2547–62.CrossRef

14.

Béziat V, Tavernier SJ, Chen Y-H, Ma CS, Materna M, Laurence A, et al. Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome. J Exp Med. 2020;217(6):e20191804.CrossRef

15.

Spencer S, Köstel Bal S, Egner W, Lango Allen H, Raza SI, Ma CA, et al. Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses. J Exp Med. 2019;216(9):1986–98.CrossRef

16.

Nahum A, Sharfe N, Broides A, Dadi H, Naghdi Z, Mandola AB, et al. Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency. J Allergy and Clin Immunol. 2020;145(3):1011-1015.e6.CrossRef

17.

Lyons JJ, Liu Y, Ma CA, Yu X, O’Connell MP, Lawrence MG, et al. ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans. J Exp Med. 2017;214:669–80. https://doi.org/10.1084/jem.20161435.CrossRefPubMedPubMedCentral

18.

Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, et al. Severe eczema and hyper-IgE in Loeys–Dietz-syndrome — contribution to new findings of immune dysregulation in connective tissue disorders. Clin Immunol. 2014;150(1):43–50.CrossRef

19.

Béziat V, Li J, Lin J-X, Ma CS, Li P, Bousfiha A, et al. A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity. Sci Immunol. 2018;3(24):eaat4956.CrossRef

Title: The Seven STAT3-Related Hyper-IgE Syndromes
Authors: Ilham Fadil
Meriem Ben-Ali
Leila Jeddane
Mohamed-Ridha Barbouche
Ahmed Aziz Bousfiha
Publication date: 01-08-2021
Publisher: Springer US
Keyword: Craniosynostosis
Published in: Journal of Clinical Immunology / Issue 6/2021
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI: https://doi.org/10.1007/s10875-021-01041-3

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