An Adult-Onset Chronic Granulomatous Disease Case with Hemophagocytic Lymphohistiocytosis Caused by Burkholderia and Aspergillus Infections

被引：0

作者：

Kaygusuz, Yunus ^{[1
]}

Ustun, Ceren ^{[2
]}

Er, Ahmet Gorkem ^{[3
]}

Kiki, Zehranur ^{[4
]}

Yaz, Ismail ^{[5
]}

Tuten-Dal, Sevda ^{[2
]}

Uner, Aysegul ^{[4
]}

Cagdas, Deniz ^{[2
]}

Inkaya, Ahmet cagkan ^{[3
]}

Akova, Murat ^{[3
]}

机构：

[1] Hacettepe Univ, Sch Med, Dept Internal Med, Ankara, Turkiye

[2] Hacettepe Univ, Sch Med, Dept Pediat, Div Immunol, Ankara, Turkiye

[3] Hacettepe Univ, Sch Med, Dept Infect Dis & Clin Microbiol, Ankara, Turkiye

[4] Hacettepe Univ, Sch Med, Dept Pathol, Ankara, Turkiye

[5] Hacettepe Univ, Dept Pediat Basic Sci, Div Immunol, Sch Med, Ankara, Turkiye

来源：

INFECTIOUS DISEASES AND CLINICAL MICROBIOLOGY | 2024年 / 6卷 / 04期

关键词：

granulomatous disease; hemophagocytic lymphohistiocytosis; invasive pulmonary aspergillosis; Burkholderia infections; PRIMARY IMMUNODEFICIENCIES;

D O I：

10.36519/idcm.2024.381

中图分类号：

R51 [传染病];

学科分类号：

100401 ;

摘要：

Chronic granulomatous disease (CGD) is a congenital disorder impairing phagocyte function, causing recurrent, life-threatening infections, and is rarely seen in adulthood. We present a 36-year-old male initially diagnosed with pneumonia. Bronchoalveolar lavage and blood cultures yielded Burkholderia multivorans/cepacia complex, sputum cultures Aspergillus niger. Despite the antimicrobial treatment, his condition deteriorated. His clinical and laboratory findings indicated hemophagocytic lymphohistiocytosis. He responded to steroids. Nitroblue tetrazolium and dihydroergotamine-123 tests confirmed CGD. Whole exome sequencing identified NCF1 deletion. He received interferon-gamma, voriconazole, and trimethoprim-sulfamethoxazole. Allogeneic hematopoietic stem cell transplantation was planned. This case report improves understanding of CGD in adults, aiming to enhance diagnostic and therapeutic strategies.

引用

页码：334 / 338

页数：5

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