Partial recapitulation of fetal thymic T‐cell constitution postnatally in a patient with cartilage hair hypoplasia‐anauxetic dysplasia spectrum disorder: A case report

Author(s):  
Joseph Rohr ◽  
Carmelita Alvares ◽  
Hana B. Niebur ◽  
Sachit Patel ◽  
Danita Velasco ◽  
...  
2017 ◽  
Vol Ano 7 ◽  
pp. 38-41
Author(s):  
Ana Sofia Pontes Trillo ◽  
Mariana Gianola Arruda ◽  
Camila Fernandes Bonifácio Jubara ◽  
Isabela Mosconi Caldas ◽  
Sonia Maria Motta Palma

O presente relato descreve o caso de um paciente com transtorno do espectro autista (TEA) associado ao mosaicismo genético 46XY, uma condição rara e pouco relatada. Os autores descrevem a evolução do paciente e discutem a literatura sobre anomalias cromossônicas associadas ao TEA. Conclui-se enfatizando que a avaliação clínica de cada caso de TEA deveria contemplar sempre aspectos neurológicos, psiquiátricos e genéticos.


2021 ◽  
Author(s):  
Daniel S Krauth ◽  
Christina M Jamros ◽  
Shayna C Rivard ◽  
Niels H Olson ◽  
Ryan C Maves

ABSTRACT We describe a patient with subclinical coccidioidomycosis who experienced rapid disease dissemination shortly after SARS-CoV-2 infection, suggesting host immune response dysregulation to coccidioidomycosis by SARS-CoV-2. We hypothesize that disrupted cell-mediated signaling may result after SARS-CoV-2 infection leading to functional exhaustion and CD8+ T-cell senescence with impairment in host cellular response to Coccidioides infection.


2021 ◽  
Vol 82 ◽  
pp. 105858
Author(s):  
K. Chaker ◽  
M. Beghdad ◽  
M.A. Mennouni ◽  
A. Mkhatri ◽  
Y. Oukessou ◽  
...  

2021 ◽  
Vol 9 (8) ◽  
Author(s):  
Hiroshi Imamura ◽  
Yuichiro Kashima ◽  
Masao Hattori ◽  
Kotaro Mori ◽  
Kanako Takeshige ◽  
...  

2021 ◽  
pp. 030089162110272
Author(s):  
Ginevra Lolli ◽  
Beatrice Casadei ◽  
Cinzia Pellegrini ◽  
Lisa Argnani ◽  
Federica Cocito ◽  
...  

Objective: Peripheral T-cell lymphomas (PTCLs) are a group of heterogeneous T-cell malignancies representing 5%–10% of aggressive lymphomas. The prognosis is poor for patients with relapsed/refractory (R/R) disease, with a median overall survival of less than 6 months and no standardized treatments. We discuss the role of the phosphatidylinositol 3-kinase (PI3K) γδ inhibitor duvelisib as bridge to allotransplantation in a patient with R/R PTCL. Methods: Case report. Results: A 55-year-old woman diagnosed with relapsed nodal PTCL with T-follicular helper phenotype received PI3K γδ inhibitor duvelisib in the context of the phase II PRIMO clinical trial. After two cycles at a dose of 75 mg twice daily, the patient achieved complete response (CR), which was subsequently consolidated with human leukocyte antigen fully matched unrelated donor allotransplantation. No major toxicities were recorded during the duvelisib treatment period or during hospitalization for allotransplantation. At the latest follow-up, the patient was alive and still in CR 10 months posttransplant. Conclusions: Duvelisib should be further explored as a bridge to allotransplantation in patients with R/R PTCL, given the success and low toxicity in our patient.


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