A 30-Year-Old Immune Deficient Woman With Persistent Cough and Shortness of Breath.
Chest
; 160(4): e343-e346, 2021 10.
Article
em En
| MEDLINE
| ID: mdl-34625181
ABSTRACT
CASE PRESENTATION A 30-year-old woman was referred with increasing shortness of breath and cough in the setting of GATA2 deficiency. She initially presented 9 years previously with recurrent episodes of pneumonia and sinusitis. Genetic testing revealed a heterozygous GATA2 mutation (c.988C>T). She has since had multiple infections that have included necrotizing fasciitis of the right thumb, recurrent pilonidal infections (which required 23 procedures), esophageal candidiasis, and human papillomavirus-positive high-grade squamous intraepithelial lesion of the cervix. Serial bone marrow biopsy specimens showed persistent hypocellularity (20% to 60%) with intermittent erythroid atypia and variable detection of trisomy 8, which were concerning for evolving myelodysplastic syndrome. One year before the current admission, she was diagnosed with disseminated Mycobacterium avium complex and was treated with rifabutin, ethambutol, and azithromycin. She was taking voriconazole, acyclovir, and trimethoprim-sulfamethoxazole prophylaxis.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteinose Alveolar Pulmonar
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Tosse
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Dispneia
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Deficiência de GATA2
Tipo de estudo:
Etiology_studies
Limite:
Adult
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Female
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Humans
Idioma:
En
Revista:
Chest
Ano de publicação:
2021
Tipo de documento:
Article