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Pulmonary Manifestations of GATA2 Deficiency.
Marciano, Beatriz E; Olivier, Kenneth N; Folio, Les R; Zerbe, Christa S; Hsu, Amy P; Freeman, Alexandra F; Filie, Armando C; Spinner, Michael A; Sanchez, Lauren A; Lovell, Jana P; Parta, Mark; Cuellar-Rodriguez, Jennifer M; Hickstein, Dennis D; Holland, Steven M.
Afiliación
  • Marciano BE; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Olivier KN; Pulmonary Branch, National Heart, Lung and Blood Institute, National Cancer Institute, National Institutes of Health, Bethesda, MD. Electronic address: kenneth.olivier@nih.gov.
  • Folio LR; Department of Radiology and Imaging Sciences, Clinical Center, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Zerbe CS; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Hsu AP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Freeman AF; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Filie AC; Cytology Services Laboratory Pathology, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Spinner MA; Division of Oncology, Department of Medicine, Stanford University, Stanford.
  • Sanchez LA; Division of Allergy, Immunology, and Bone Marrow Transplantation, Department of Pediatrics, University of California, San Francisco, CA.
  • Lovell JP; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Parta M; Clinical Research Directorate, Frederick National Laboratory for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Cuellar-Rodriguez JM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Hickstein DD; Experimental Transplantation and Immunology Branch, National Cancer Institute, National Institutes of Health, Bethesda, MD.
  • Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Cancer Institute, National Institutes of Health, Bethesda, MD.
Chest ; 160(4): 1350-1359, 2021 10.
Article en En | MEDLINE | ID: mdl-34089740
BACKGROUND: GATA2 deficiency is a genetic disorder of hematopoiesis, lymphatics, and immunity caused by autosomal dominant or sporadic mutations in GATA2. The disease has a broad phenotype encompassing immunodeficiency, myelodysplasia, leukemia, and vascular or lymphatic dysfunction as well as prominent pulmonary manifestations. RESEARCH QUESTION: What are the pulmonary manifestations of GATA2 deficiency? STUDY DESIGN AND METHODS: A retrospective review was conducted of clinical medical records, diagnostic imaging, pulmonary pathologic specimens, and tests of pulmonary function. RESULTS: Of 124 patients (95 probands and 29 ascertained), the lung was affected in 56%. In addition to chronic infections, pulmonary alveolar proteinosis (11 probands) and pulmonary arterial hypertension (nine probands) were present. Thoracic CT imaging found small nodules in 54% (54 probands and 12 relatives), reticular infiltrates in 40% (45 probands and four relatives), paraseptal emphysema in 25% (30 probands and one relative), ground-glass opacities in 35% (41 probands and two relatives), consolidation in 21% (23 probands and two relatives), and a typical crazy-paving pattern in 7% (eight probands and no relatives). Nontuberculous mycobacteria were the most frequent organisms associated with chronic infection. Allogeneic hematopoietic stem cell transplantation successfully reversed myelodysplasia and immune deficiency and also improved pulmonary hypertension and pulmonary alveolar proteinosis in most patients. INTERPRETATION: GATA2 deficiency has prominent pulmonary manifestations. These clinical observations confirm the essential role of hematopoietic cells in many aspects of pulmonary function, including infections, alveolar proteinosis, and pulmonary hypertension, many of which precede the formal diagnosis, and many of which respond to stem cell transplantation.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteinosis Alveolar Pulmonar / Enfisema Pulmonar / Infecciones del Sistema Respiratorio / Nódulos Pulmonares Múltiples / Deficiencia GATA2 / Hipertensión Arterial Pulmonar Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Chest Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteinosis Alveolar Pulmonar / Enfisema Pulmonar / Infecciones del Sistema Respiratorio / Nódulos Pulmonares Múltiples / Deficiencia GATA2 / Hipertensión Arterial Pulmonar Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Aged80 / Child / Female / Humans / Male / Middle aged Idioma: En Revista: Chest Año: 2021 Tipo del documento: Article Pais de publicación: Estados Unidos