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Tytuł pozycji:

[Immune dysregulation syndrome caused by STAT3 gene mutation: a complicated case study].

Tytuł:
[Immune dysregulation syndrome caused by STAT3 gene mutation: a complicated case study].
Autorzy:
Yao AQ; Department of Pediatric Hematologic Oncology, First Affiliated Hospital of Hunan Normal University/Children's Medical Center of Hunan People's Hospital, Changsha 410005, China.
Chen KK; Department of Pediatric Hematologic Oncology, First Affiliated Hospital of Hunan Normal University/Children's Medical Center of Hunan People's Hospital, Changsha 410005, China.
He XL; Department of Pediatric Hematologic Oncology, First Affiliated Hospital of Hunan Normal University/Children's Medical Center of Hunan People's Hospital, Changsha 410005, China.
Tian X; Department of Pediatric Hematologic Oncology, First Affiliated Hospital of Hunan Normal University/Children's Medical Center of Hunan People's Hospital, Changsha 410005, China.
Źródło:
Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics [Zhongguo Dang Dai Er Ke Za Zhi] 2021 Apr; Vol. 23 (4), pp. 397-401.
Typ publikacji:
Case Reports; Journal Article
Język:
Chinese
Imprint Name(s):
Original Publication: Changsha : Zhongguo dang dai er ke za zhi she, 1999-
MeSH Terms:
Fever*
Immune System Diseases*/genetics
STAT3 Transcription Factor*/genetics
Child, Preschool ; Heterozygote ; Humans ; Male ; Mutation ; Syndrome
References:
J Allergy Clin Immunol. 2018 Nov;142(5):1665-1669. (PMID: 30092289)
Mol Cell Endocrinol. 2018 Sep 15;473:166-177. (PMID: 29378236)
Zhonghua Er Ke Za Zhi. 2017 Jan 2;55(1):30-36. (PMID: 28072956)
Nat Genet. 2014 Aug;46(8):812-814. (PMID: 25038750)
Blood. 2015 Jan 22;125(4):583-4. (PMID: 25614633)
J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1958-1969.e9. (PMID: 30825606)
Blood. 2015 Jan 22;125(4):591-9. (PMID: 25359994)
Horm Res Paediatr. 2017;88(2):160-166. (PMID: 28253502)
Front Pediatr. 2017 Mar 13;5:49. (PMID: 28349047)
Zhonghua Er Ke Za Zhi. 2020 Aug 2;58(8):624-627. (PMID: 32842381)
J Clin Immunol. 2015 Nov;35(8):727-38. (PMID: 26445875)
Am J Respir Crit Care Med. 2018 Jun 1;197(11):e22-e23. (PMID: 29590538)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Substance Nomenclature:
0 (STAT3 Transcription Factor)
0 (STAT3 protein, human)
Entry Date(s):
Date Created: 20210412 Date Completed: 20210413 Latest Revision: 20220531
Update Code:
20240105
PubMed Central ID:
PMC8050543
PMID:
33840413
Czasopismo naukowe
A boy, aged 4 years and 6 months, had disease onset of fever, cough, pale complexion, and weakness, with hepatosplenomegaly, lymphadenectasis, and pancytopenia. He had been having repeated respiratory and digestive tract infections. Gene detection showed a pathogenic heterozygous mutation, c.C2147 > T(p.T716M), in the STAT3 gene. The boy was thus diagnosed with immune dysregulation syndrome. Anti-infective therapy and irregular corticosteroid therapy had an unsatisfactory effect in the early stage, but the symptoms improved after regular corticosteroid therapy. This article reported the case of immune dysregulation syndrome caused by STAT3 gene mutation and summarized the epidemiology, clinical features, diagnosis, and treatment of this disease, which can provide a reference for early diagnosis, treatment, and future studies of this disease.

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