Multiple Simultaneous Infections With Nontuberculous Mycobacteria in the Setting of <i>GATA2</i> Mutation and Myelodysplastic Syndrome

Tabaja, Hussam; Jensen, Kelsey; Rivera, Christina G.; Misra, Anisha; Pruthi, Rajiv K.; Vergidis, Paschalis

doi:10.1093/ofid/ofac309

Cited by 2 publications

(4 citation statements)

References 12 publications

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“…PVs in GATA2 can be either germline or somatic. Germline PVs follow an autosomal dominant inheritance pattern, and their clinical manifestations typically have a familiar predisposition, although the majority of germline PVs in GATA2 are de novo and not inherited 3,21 . Somatic GATA2 PVs are poorly described, and less than 4% of sporadic myeloid malignancies have somatic GATA2 PVs 11 .…”

Section: Case Discussion and Review Of The Literaturementioning

confidence: 99%

“…Germline PVs follow an autosomal dominant inheritance pattern, and their clinical manifestations typically have a familiar predisposition, although the majority of germline PVs in GATA2 are de novo and not inherited. 3,21 Somatic GATA2 PVs are poorly described, and less than 4% of sporadic myeloid malignancies have somatic GATA2 PVs. 11 A previous study from our institution showed that myeloid malignancies with somatic GATA2 PVs can also demonstrate diverse immunodeficiency phenotypes, similar to patients with germline GATA2 PVs.…”

Section: A S E Discussion and Re Vie W Of The Liter Aturementioning

confidence: 99%

“…Furthermore, these patients have an excess risk for myelodysplastic syndrome (MDS)/acute myeloid leukaemia (AML), pulmonary alveolar proteinosis and lymphedema 1 . Notably, patients with GATA2 PVs have a high prevalence of various infections, including invasive fungal infections (IFIs) 3 …”

Section: Introductionmentioning

confidence: 99%

“…with GATA2 PVs have a high prevalence of various infections, including invasive fungal infections (IFIs). 3 Herein, we present a patient with pancytopenia and Emberger syndrome (ie. germline GATA2 PV with the phenotypic triad of lymphedema, MDS/AML and hearing loss) 1 who developed Mucorales sinusitis while receiving his first cycle of remission induction chemotherapy (RIC) for AML.…”

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confidence: 99%

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Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML: A case report and literature review of invasive fungal infections in GATA2 deficiency

Chiu,

Matsuo,

Wurster

et al. 2023

Mycoses

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Germline pathogenic variants (PVs) in the gene encoding the GATA2 transcription factor can result in profound reductions of monocytes, dendritic cells, natural killer cells and B cells. GATA2 PVs are associated with an increased risk of myeloid malignancies and a predisposition to nontuberculous mycobacterial and human papillomavirus infections. Additionally, invasive fungal infections (IFIs) have been reported in individuals with GATA2 PVs, even in the absence of myeloid malignancies. In this report, we present the case of a 40‐year‐old man with Emberger syndrome (GATA2 mutation, recently diagnosed acute myeloid leukaemia [AML] and history of lymphedema with hearing loss) who developed Mucorales sinusitis while receiving his first course of remission induction chemotherapy. Additionally, we review the literature on all published cases of proven IFIs in patients with GATA2 PVs. Clinicians should be aware that patients with GATA2 PVs could be vulnerable to opportunistic IFIs, even in the absence of AML and antineoplastic therapy. Furthermore, the distinctly unusual occurrence of mucormycosis during the first course of induction chemotherapy for AML in our patient indicates that patients with germline GATA2 PVs receiving induction chemotherapy for AML might be at high risk for early onset of IFIs due to aggressive, opportunistic moulds.

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Section: Case Discussion and Review Of The Literaturementioning

confidence: 99%

Section: A S E Discussion and Re Vie W Of The Liter Aturementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

mentioning

confidence: 99%

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Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML: A case report and literature review of invasive fungal infections in GATA2 deficiency

Chiu,

Matsuo,

Wurster

et al. 2023

Mycoses

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A Patient With Mycobacteremia Due to Two Different Nontuberculous Mycobacteria

Hill

Wooten

2022

Open Forum Infectious Diseases

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Disseminated nontuberculous mycobacterial infections are most common in patients with severe immunosuppression, such as people with human immunodeficiency virus (HIV) and low CD4+ T-cell counts. In this report, we present a rare case of a person with HIV who was hospitalized for mycobacteremia due to 2 different nontuberculous mycobacteria. We also provide a comprehensive summary of published case reports describing nontuberculous mycobacterial coinfections.

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Multiple Simultaneous Infections With Nontuberculous Mycobacteria in the Setting of GATA2 Mutation and Myelodysplastic Syndrome

Cited by 2 publications

References 12 publications

Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML: A case report and literature review of invasive fungal infections in GATA2 deficiency

Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML: A case report and literature review of invasive fungal infections in GATA2 deficiency

A Patient With Mycobacteremia Due to Two Different Nontuberculous Mycobacteria

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