GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies

Mendes-de-Almeida, Daniela P.; Andrade, Francianne Gomes; Santos-Bueno, Filipe V Dos; Freitas, Dayvison Francis Saraiva; Soares-Lima, Sheila Coelho; Zancopé‐Oliveira, Rosely Maria; Pombo‐de‐Oliveira, Maria S.

doi:10.1016/j.htct.2022.01.014

Cited by 2 publications

(6 citation statements)

References 21 publications

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“…Subsequently, non-disseminated blastomycosis (pulmonary only, reportedly severe) was identified in a woman with GATA2 deficiency, although the trigger to identify this inborn error of immunity was not related to the fungal disease but rather the subsequent development of herpes-simplex-virus-induced Hemophagocytic lymphohistiocytosis (HLH) nine years later [ 171 ]. Variants in GATA2 have also been identified in a Brazilian cohort in association with histoplasmosis, paracoccidioidomycosis, and sporotrichosis [ 184 ]: Most of the variants were predicted in silico to be benign, while one was rare and classified as a variant of undetermined significance (minor allele frequency <0.01%; associated with paracoccidioidomycosis). Unfortunately, none of the variants were characterized molecularly or functionally.…”

Section: Thermally Dimorphic Endemic Mycosesmentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

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In medical mycology, the main context of disease is iatrogenic-based disease. However, historically, and occasionally, even today, fungal diseases affect humans with no obvious risk factors, sometimes in a spectacular fashion. The field of “inborn errors of immunity” (IEI) has deduced at least some of these previously enigmatic cases; accordingly, the discovery of single-gene disorders with penetrant clinical effects and their immunologic dissection have provided a framework with which to understand some of the key pathways mediating human susceptibility to mycoses. By extension, they have also enabled the identification of naturally occurring auto-antibodies to cytokines that phenocopy such susceptibility. This review provides a comprehensive update of IEI and autoantibodies that inherently predispose humans to various fungal diseases.

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Section: Thermally Dimorphic Endemic Mycosesmentioning

confidence: 99%

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Vinh

2023

Pathogens

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“…In the literature review, we identified 46 patients (eight patients with AML, 14 with MDS and 24 without myeloid malignancies) with GATA2 mutations and proven IFIs (Table 1). 1,4–12 The majority of cases were male (59%), with a median age of 41 (interquartile range 29–54). Clinical manifestations included sensorineural hearing loss (20%), pulmonary alveolar proteinosis (13%) and lymphedema (11%).…”

Section: Case Discussion and Review Of The Literaturementioning

confidence: 99%

“… e Other localised infections included central nervous system (one case of Scedosporium ), 11 osteoarticular (one case of Arthrocladium fulminans ), 5 mucocutaneous / skin / soft tissue infections (four cases of Sporothrix, 12 five cases of Candida spp., 1,8 one case of Aspergillus spp 1 …”

Section: Case Discussion and Review Of The Literaturementioning

confidence: 99%

“…Patients with GATA2 mutations and myeloid malignancies were more likely to have Candida infections than those without myeloid malignancies (46% vs. 17%, p = .034, Table 1), which might be attributable to mucosal injury in the setting of cytotoxic chemotherapy. In contrast, paracoccidioidomycosis (three cases, all disseminated infections) and Arthrocladium fulminans infection (one disseminated infection and one case of septic arthritis) were only reported in patients without myeloid malignancies 5,9,12 …”

Section: Case Discussion and Review Of The Literaturementioning

confidence: 99%

“…In the literature review, we identified 46 patients (eight patients with AML, 14 with MDS and 24 without myeloid malignancies) with GATA2 mutations and proven IFIs (Table 1). 1,[4][5][6][7][8][9][10][11][12] The majority of cases were male (59%), with a median age of 41 (interquartile e Other localised infections included central nervous system (one case of Scedosporium), 11 osteoarticular (one case of Arthrocladium fulminans), 5 mucocutaneous / skin / soft tissue infections (four cases of Sporothrix, 12 five cases of Candida spp., 1,8 one case of Aspergillus spp. 1 ).…”

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

confidence: 99%

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Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosedAML: A case report and literature review of invasive fungal infections inGATA2deficiency

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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GATA2 variants in patients with non-tuberculous mycobacterial or fungal infections without known immunodeficiencies

Cited by 2 publications

References 21 publications

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Of Mycelium and Men: Inherent Human Susceptibility to Fungal Diseases

Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosedAML: A case report and literature review of invasive fungal infections inGATA2deficiency

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