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1.
Int J Mol Sci ; 25(9)2024 Apr 26.
Artículo en Inglés | MEDLINE | ID: mdl-38731927

RESUMEN

Bordetella hinzii (B. hinzii), a Gram-negative bacillus commonly associated with respiratory infections in animals, has garnered attention for its sporadic cases in humans, particularly in immunocompromised individuals. Despite its opportunistic nature, there remains limited understanding regarding its pathogenicity, diagnostic challenges, and optimal treatment strategies, especially in the context of immunosuppression. Herein, we present the first documented case of acute bronchitis caused by B. hinzii in an immunocompromised patient following double-lung transplantation. The patient, a former smoker with sarcoidosis stage IV, underwent transplant surgery and subsequently developed a febrile episode, leading to the identification of B. hinzii in broncho-alveolar lavage samples. Antimicrobial susceptibility testing revealed resistance to multiple antibiotics, necessitating tailored treatment adjustments. Our case underscores the importance of heightened awareness among clinicians regarding B. hinzii infections and the imperative for further research to elucidate its epidemiology and optimal management strategies, particularly in immunocompromised populations.


Asunto(s)
Infecciones por Bordetella , Bordetella , Huésped Inmunocomprometido , Trasplante de Pulmón , Trasplante de Pulmón/efectos adversos , Humanos , Bordetella/aislamiento & purificación , Infecciones por Bordetella/microbiología , Infecciones por Bordetella/diagnóstico , Masculino , Persona de Mediana Edad , Antibacterianos/uso terapéutico , Antibacterianos/farmacología , Receptores de Trasplantes
2.
J Allergy Clin Immunol Pract ; 9(2): 803-818.e11, 2021 02.
Artículo en Inglés | MEDLINE | ID: mdl-33217613

RESUMEN

BACKGROUND: Gain-of-function mutations in STING1 underlie a type I interferonopathy termed SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably characterized by early-onset systemic inflammation, skin vasculopathy, and interstitial lung disease (ILD). OBJECTIVE: To describe a cohort of patients with SAVI. METHODS: Assessment of clinical, radiological and immunological data from 21 patients (17 families) was carried out. RESULTS: Patients carried heterozygous substitutions in STING1 previously described in SAVI, mainly the p.V155M. Most were symptomatic from infancy, but late onset in adulthood occurred in 1 patient. Systemic inflammation, skin vasculopathy, and ILD were observed in 19, 18, and 21 patients, respectively. Extensive tissue loss occurred in 4 patients. Severity of ILD was highly variable with insidious progression up to end-stage respiratory failure reached at teenage in 6 patients. Lung imaging revealed early fibrotic lesions. Failure to thrive was almost constant, with severe growth failure seen in 4 patients. Seven patients presented polyarthritis, and the phenotype in 1 infant mimicked a combined immunodeficiency. Extended features reminiscent of other interferonopathies were also found, including intracranial calcification, glaucoma and glomerular nephropathy. Increased expression of interferon-stimulated genes and interferon α protein was constant. Autoantibodies were frequently found, in particular rheumatoid factor. Most patients presented with a T-cell defect, with low counts of memory CD8+ cells and impaired T-cell proliferation in response to antigens. Long-term follow-up described in 8 children confirmed the clinical benefit of ruxolitinib in SAVI where the treatment was started early in the disease course, underlying the need for early diagnosis. Tolerance was reasonably good. CONCLUSION: The largest worldwide cohort of SAVI patients yet described, illustrates the core features of the disease and extends the clinical and immunological phenotype to include overlap with other monogenic interferonopathies.


Asunto(s)
Enfermedades Pulmonares Intersticiales , Proteínas de la Membrana/genética , Enfermedades Vasculares , Adolescente , Adulto , Niño , Humanos , Lactante , Inflamación , Mutación
3.
J Thorac Dis ; 10(7): 4653-4658, 2018 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-30174918

RESUMEN

BACKGROUND: Endobronchial ultrasound-guided fine-needle aspiration (EBUS-FNA) of mediastinal lymph nodes is a minimally invasive and efficient tool for both diagnosis and staging of lung cancer. EBUS-FNA also permits tumor genotyping. However this critical datum for the therapeutic management is often long to obtain for metastatic patients with short life expectancy. METHODS: From May 2011 to December 2017, 398 lung cancer patients underwent a genetic analysis based on EBUS-FNA samples. EBUS-FNAs were performed with rapid on-site evaluation. Mutations were studied with Sanger or new generation sequencing. Forty-three cases were also tested with a fully automated real-time PCR rapid technique. ALK abnormalities were assessed by immunohistochemistry and/or in situ hybridization. RESULTS: A genotypic result could be obtained in 316 cases (79.4%) and in 180 of the 198 more recent cases (90.9%). Genetic abnormalities were observed in 191 cases (48.0%). Using the rapid technique, EGFR/KRAS mutational status was obtained within a few hours following the histological diagnosis and on the same day of the EBUS-FNA by analyzing fresh specimens after intra-operative cytological diagnosis. CONCLUSIONS: In term of molecular diagnosis, EBUS-FNA provides high-quality biological material similar to that of other clinical sampling methods. Furthermore, our study suggests that a rapid molecular diagnostic method could lead to a prompt and appropriate therapeutic management for many advanced stage patients.

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