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STAT3 Deficiency

MedGen UID:
445391
•Concept ID:
C2936739
•
Disease or Syndrome
Synonyms: Autosomal Dominant HIES; Autosomal Dominant HIESs; HIES, Autosomal Dominant; HIESs, Autosomal Dominant; Hyper IgE Syndrome, Autosomal Dominant; Hyper Immunoglobulin E Syndrome, Autosomal Dominant; Hyper-IgE Syndrome, Autosomal Dominant; Hyper-Immunoglobulin E Syndrome, Autosomal Dominant
 
OMIM®: 147060

Definition

A condition of decreased or absent presence or activity of signal transducer and activator of transcription 3 protein. Deficiency of this protein is associated with hyper-IgE syndrome. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSTAT3 Deficiency

Professional guidelines

PubMed

Treatment of inborn errors of immunity patients with inflammatory bowel disease phenotype by allogeneic stem cell transplantation.
Moser LM, Fekadu J, Willasch A, Rettinger E, Sörensen J, Jarisch A, Kirwil M, Lieb A, Holzinger D, Calaminus G, Bader P, Bakhtiar S
Br J Haematol 2023 Mar;200(5):595-607. Epub 2022 Oct 10 doi: 10.1111/bjh.18497. PMID: 36214981
Perhexiline treatment improves toxic effects of β-adrenergic receptor stimulation in experimental peripartum cardiomyopathy.
Pfeffer TJ, List M, Müller JH, Scherr M, Bauersachs J, Hilfiker-Kleiner D, Ricke-Hoch M
ESC Heart Fail 2021 Aug;8(4):3375-3381. Epub 2021 May 17 doi: 10.1002/ehf2.13412. PMID: 34002539Free PMC Article

Recent clinical studies

Etiology

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AHC, Cabello EM, Laube J, Zweier M, Baumer A, Rauch A, Khan N
Eur J Hum Genet 2023 Jul;31(7):784-792. Epub 2023 Apr 4 doi: 10.1038/s41431-023-01320-0. PMID: 37012328Free PMC Article
Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.
Shakerian L, Nourizadeh M, Badalzadeh M, Fazlollahi MR, Shokouhi Shoormasti R, Saghafi S, Esmaeili B, Alizadeh Z, Borte S, Houshmand M, Hammarström L, Pourpak Z
Iran J Allergy Asthma Immunol 2021 Aug 7;20(4):402-412. PMID: 34418894
Clinical Profile of Hyper-IgE Syndrome in India.
Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144Free PMC Article
Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.
Duréault A, Tcherakian C, Poiree S, Catherinot E, Danion F, Jouvion G, Bougnoux ME, Mahlaoui N, Givel C, Castelle M, Picard C, Chansdesris MO, Lortholary O, Lanternier F; French Mycoses Study Group
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):1986-1995.e3. Epub 2019 Mar 13 doi: 10.1016/j.jaip.2019.02.041. PMID: 30878710
Human hyper-IgE syndrome: singular or plural?
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL
Mamm Genome 2018 Aug;29(7-8):603-617. Epub 2018 Aug 9 doi: 10.1007/s00335-018-9767-2. PMID: 30094507Free PMC Article

Diagnosis

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AHC, Cabello EM, Laube J, Zweier M, Baumer A, Rauch A, Khan N
Eur J Hum Genet 2023 Jul;31(7):784-792. Epub 2023 Apr 4 doi: 10.1038/s41431-023-01320-0. PMID: 37012328Free PMC Article
Investigating the Variation of TREC/KREC in Combined Immunodeficiencies.
Shakerian L, Nourizadeh M, Badalzadeh M, Fazlollahi MR, Shokouhi Shoormasti R, Saghafi S, Esmaeili B, Alizadeh Z, Borte S, Houshmand M, Hammarström L, Pourpak Z
Iran J Allergy Asthma Immunol 2021 Aug 7;20(4):402-412. PMID: 34418894
Clinical Profile of Hyper-IgE Syndrome in India.
Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144Free PMC Article
Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.
Duréault A, Tcherakian C, Poiree S, Catherinot E, Danion F, Jouvion G, Bougnoux ME, Mahlaoui N, Givel C, Castelle M, Picard C, Chansdesris MO, Lortholary O, Lanternier F; French Mycoses Study Group
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):1986-1995.e3. Epub 2019 Mar 13 doi: 10.1016/j.jaip.2019.02.041. PMID: 30878710
Human hyper-IgE syndrome: singular or plural?
Zhang Q, Boisson B, Béziat V, Puel A, Casanova JL
Mamm Genome 2018 Aug;29(7-8):603-617. Epub 2018 Aug 9 doi: 10.1007/s00335-018-9767-2. PMID: 30094507Free PMC Article

Therapy

Emergence of azole resistant-Aspergillus fumigatus infections during STAT3-deficiency.
Danion F, Duréault A, Gautier C, Senechal A, Persat F, Bougnoux ME, Givel C, Couderc LJ, Lortholary O, Garcia-Hermoso D, Lanternier F
J Med Microbiol 2020 Jun;69(6):844-849. doi: 10.1099/jmm.0.001200. PMID: 32459615
T cell-specific STAT3 deficiency abrogates lupus nephritis.
Yoshida N, He F, Kyttaris VC
Lupus 2019 Oct;28(12):1468-1472. Epub 2019 Sep 24 doi: 10.1177/0961203319877242. PMID: 31551033Free PMC Article
Spectrum of Pulmonary Aspergillosis in Hyper-IgE Syndrome with Autosomal-Dominant STAT3 Deficiency.
Duréault A, Tcherakian C, Poiree S, Catherinot E, Danion F, Jouvion G, Bougnoux ME, Mahlaoui N, Givel C, Castelle M, Picard C, Chansdesris MO, Lortholary O, Lanternier F; French Mycoses Study Group
J Allergy Clin Immunol Pract 2019 Jul-Aug;7(6):1986-1995.e3. Epub 2019 Mar 13 doi: 10.1016/j.jaip.2019.02.041. PMID: 30878710
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
Induction of innate lymphoid cell-derived interleukin-22 by the transcription factor STAT3 mediates protection against intestinal infection.
Guo X, Qiu J, Tu T, Yang X, Deng L, Anders RA, Zhou L, Fu YX
Immunity 2014 Jan 16;40(1):25-39. Epub 2014 Jan 9 doi: 10.1016/j.immuni.2013.10.021. PMID: 24412612Free PMC Article

Prognosis

Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.
Kasap N, Kara A, Celik V, Bilgic Eltan S, Akay Haci I, Kose H, Aygun A, Akkelle E, Yakici N, Guner SN, Reisli I, Keles S, Cekic S, Kilic SS, Karaca NE, Gulez N, Genel F, Ozen A, Yucelten AD, Karakoc-Aydiner E, Schmitz-Abe K, Baris S
J Clin Immunol 2023 Nov;43(8):1882-1890. Epub 2023 Jul 29 doi: 10.1007/s10875-023-01554-z. PMID: 37507632
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort.
Zanoni P, Steindl K, Sticht H, Oneda B, Joset P, Ivanovski I, Horn AHC, Cabello EM, Laube J, Zweier M, Baumer A, Rauch A, Khan N
Eur J Hum Genet 2023 Jul;31(7):784-792. Epub 2023 Apr 4 doi: 10.1038/s41431-023-01320-0. PMID: 37012328Free PMC Article
Severe Protein Loss in a 6-month-old Exclusively Breastfed Infant with Atopic Dermatitis.
Mašić M, Hojsak I, Niseteo T, Pustišek N, Jadrešin O, Ivković-Jureković I, Navratil M
Acta Dermatovenerol Croat 2022 Sep;30(2):106-109. PMID: 36254543
A set of clinical and laboratory markers differentiates hyper-IgE syndrome from severe atopic dermatitis.
Kasap N, Celik V, Isik S, Cennetoglu P, Kiykim A, Eltan SB, Nain E, Ogulur I, Baser D, Akkelle E, Celiksoy MH, Kocamis B, Cipe FE, Yucelten AD, Karakoc-Aydiner E, Ozen A, Baris S
Clin Immunol 2021 Feb;223:108645. Epub 2020 Dec 7 doi: 10.1016/j.clim.2020.108645. PMID: 33301882
Clinical significance of interleukin-6 in diagnosis of lung, oral, esophageal, and gall bladder carcinomas.
Vinocha A, Grover RK, Deepak R
J Cancer Res Ther 2018 Sep;14(Supplement):S758-S760. doi: 10.4103/0973-1482.183217. PMID: 30249899

Clinical prediction guides

Inherited human ZNF341 deficiency.
Béziat V, Fieschi C, Momenilandi M, Migaud M, Belaid B, Djidjik R, Puel A
Curr Opin Immunol 2023 Jun;82:102326. Epub 2023 Apr 18 doi: 10.1016/j.coi.2023.102326. PMID: 37080116Free PMC Article
Clinical Profile of Hyper-IgE Syndrome in India.
Saikia B, Rawat A, Minz RW, Suri D, Pandiarajan V, Jindal A, Sahu S, Karim A, Desai M, Taur PD, Pandrowala A, Gowri V, Madkaikar M, Dalvi A, Yadav RM, Lashkari HP, Raj R, Uppuluri R, Swaminathan VV, Bhattad S, Cyril G, Kumar H, Shukla A, Kalra M, Govindaraj G, Singh S
Front Immunol 2021;12:626593. Epub 2021 Feb 26 doi: 10.3389/fimmu.2021.626593. PMID: 33717144Free PMC Article
Essential role of mitochondrial Stat3 in p38(MAPK) mediated apoptosis under oxidative stress.
Cheng X, Peuckert C, Wölfl S
Sci Rep 2017 Nov 13;7(1):15388. doi: 10.1038/s41598-017-15342-4. PMID: 29133922Free PMC Article
IL-17 and infections.
Ling Y, Puel A
Actas Dermosifiliogr 2014 Oct;105 Suppl 1:34-40. doi: 10.1016/S0001-7310(14)70016-X. PMID: 25398490
STAT3 negatively regulates thyroid tumorigenesis.
Couto JP, Daly L, Almeida A, Knauf JA, Fagin JA, Sobrinho-Simões M, Lima J, Máximo V, Soares P, Lyden D, Bromberg JF
Proc Natl Acad Sci U S A 2012 Aug 28;109(35):E2361-70. Epub 2012 Aug 13 doi: 10.1073/pnas.1201232109. PMID: 22891351Free PMC Article

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