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Case Report

A Novel STAT3 Mutation in a Patient with Hyper-IgE Syndrome Diagnosed with a Severe Necrotizing Pulmonary Infection

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Pages 219-227 | Published online: 12 Mar 2021

Figures & data

Table 1 Basic Laboratory Work-Up of a Female Patient with AD-HIES

Figure 1 Pulmonary imaging by CT scan before and after treatment.

Notes: (A and B) The patient had numerous enhanced solid lesions and cavities in the upper and lower lobes of the right lung (red arrows in the left panels). Bronchiectasis was observed in the left lung (red arrow in the right panels). (C and D) After four bronchoscopic lavage procedures combined with antimicrobial medicine treatments, the patient was examined again after 15 days. The abscesses were eliminated and absorbed compared to the acute infection phase, and cavities remained (blue arrows).
Figure 1 Pulmonary imaging by CT scan before and after treatment.

Figure 2 (A) Tracheal microscopy image of the right upper lobe at the first time of bronchoscope. (B) The tracheal microscopy image of the right middle lower lobe at the first time of bronchoscope. (C and D) Tracheal microscopy images were captured at same location, (C) for the right upper lobe and (D) for the right middle lower lobe, when the patient was re-examined half a month later, after four bronchoscope procedures and antibiotic treatments.

Figure 2 (A) Tracheal microscopy image of the right upper lobe at the first time of bronchoscope. (B) The tracheal microscopy image of the right middle lower lobe at the first time of bronchoscope. (C and D) Tracheal microscopy images were captured at same location, (C) for the right upper lobe and (D) for the right middle lower lobe, when the patient was re-examined half a month later, after four bronchoscope procedures and antibiotic treatments.

Table 2 Scoring of This Patient According to the NIH HIES Scoring System

Table 3 Dynamic Analysis of Changes in Blood Cell Counts Before and After Four Bronchoscopic Lavages

Table 4 Dynamic Analysis of Changes in Inflammatory Cytokine Levels in BALF Before and After Four Bronchoscopic Lavages

Figure 3 A de novo mutation in STAT3 and decreased number of Th17 cells were detected.

Notes: (A and B) Targeted Sanger sequencing revealed a STAT3 mutation, (C) 1552C>T (leading to p.Arg645*), in the patient that was not present in her parents. (C) Flow cytometric analysis of Th17 cells in the patient. CD45/SSC gating was used to select all leukocytes, CD3+/CD4+ gating was used to choose T helper cells, and CD183/CD196 gating was used for the analysis of Th1, Th2, and Th17 cells. CD183+CD196+ represents Th1 cells, CD196+CD183- represents Th17 cells, and CD196-CD183+ represents Th1 cells.
Figure 3 A de novo mutation in STAT3 and decreased number of Th17 cells were detected.

Table 5 Analysis of the Serum T Helper Cell Counts in This Patient