Cryptococcal pneumonia in an adolescent with a gain-of-function variant in signal transduction and activator of transcription 1 (STAT1)

被引：5

作者：

Marinelli, Lisa ^{[1
]}

Ristagno, Elizabeth ^{[2
]}

Fischer, Philip ^{[2
]}

Abraham, Roshini ^{[3
]}

Joshi, Avni ^{[2
]}

机构：

[1] San Antonio Mil Med Ctr, Dept Pathol, Ft Sam Houston, TX USA

[2] Mayo Clin Minnesota, Dept Pediat & Adolescent Med, Rochester, MN 55905 USA

[3] Nationwide Childrens Hosp, Dept Pathol, Columbus, OH USA

来源：

BMJ CASE REPORTS | 2020年 / 13卷 / 04期

关键词：

Cryptococcus; infections; immunological products and vaccines; radiology; drugs: respiratory system; CHRONIC MUCOCUTANEOUS CANDIDIASIS; AUTOSOMAL-DOMINANT; FUNCTION MUTATIONS; IMMUNODEFICIENCY; RUXOLITINIB; UNDERLIE;

D O I：

10.1136/bcr-2019-234120

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

An adolescent male with a history of autoimmune enteropathy, autoimmune hypothyroidism, aphthous stomatitis and recurrent oral Candida infections only in the setting of curative antibiotic courses presented with cryptococcal pneumonia and perihilar adenitis, which was successfully treated with antifungal therapy. The patient had a complex history with several immunological anomalies. Whole exome sequencing revealed a known STAT1 pathogenic variant, associated with gain of function (GOF). This case expands our understanding of the broad clinical phenotype manifested by STAT1 GOF and emphasises the importance of consideration of this diagnosis in patients presenting with opportunistic infections and autoimmunity.

引用

页数：5

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