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1.
N Engl J Med ; 385(10): 921-929, 2021 09 02.
Artigo em Inglês | MEDLINE | ID: mdl-34469647

RESUMO

Human papillomavirus (HPV) infections underlie a wide spectrum of both benign and malignant epithelial diseases. In this report, we describe the case of a young man who had encephalitis caused by herpes simplex virus during adolescence and currently presented with multiple recurrent skin and mucosal lesions caused by HPV. The patient was found to have a pathogenic germline mutation in the X-linked interleukin-2 receptor subunit gamma gene (IL2RG), which was somatically reverted in T cells but not in natural killer (NK) cells. Allogeneic hematopoietic-cell transplantation led to restoration of NK cytotoxicity, with normalization of the skin microbiome and persistent remission of all HPV-related diseases. NK cytotoxicity appears to play a role in containing HPV colonization and the ensuing HPV-related hyperplastic or dysplastic lesions. (Funded by the National Institutes of Health and the Herbert Irving Comprehensive Cancer Center Flow Cytometry Shared Resources.).


Assuntos
Mutação em Linhagem Germinativa , Transplante de Células-Tronco Hematopoéticas , Células Matadoras Naturais/fisiologia , Infecções por Papillomavirus/terapia , Citotoxicidade Imunológica , Encefalite/virologia , Feminino , Humanos , Células Matadoras Naturais/efeitos dos fármacos , Masculino , Microbiota/efeitos dos fármacos , Células T Matadoras Naturais/fisiologia , Papillomaviridae , Infecções por Papillomavirus/genética , Infecções por Papillomavirus/imunologia , Linhagem , Pele/microbiologia , Transplante Homólogo , Adulto Jovem
2.
Dermatol Online J ; 13(1): 11, 2007 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-17511944

RESUMO

A 32-year-old woman and her 35-year-old sister presented with plaques of scleroderma en coup de sabre. The younger sister's disease was more severe and preceded the older sister's by 10 years. This is the second reported case of familial en coup de sabre, and the first case of horizontal transmission. Treatment of the younger sister with antimalarials and narrow-band ultraviolet B (NB-UVB) phototherapy slowed disease progression and reversed hair loss. The observation that NB-UVB was effective in this case of linear scleroderma suggests that it may be indicated as a therapy for cutaneous scleroderma.


Assuntos
Antimaláricos/uso terapêutico , Cloroquina/uso terapêutico , Colchicina/uso terapêutico , Predisposição Genética para Doença , Supressores da Gota/uso terapêutico , Esclerodermia Localizada , Terapia Ultravioleta/métodos , Adulto , Progressão da Doença , Quimioterapia Combinada , Feminino , Seguimentos , Testa/patologia , Humanos , Esclerodermia Localizada/tratamento farmacológico , Esclerodermia Localizada/genética , Esclerodermia Localizada/radioterapia
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