ArticleFrontiers in physiology2026
Trying to disentangle the causes of dyspnea and exercise limitation in a subject with GATA2 deficiency and normal spirometry: a case report.
Article in Frontiers in physiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: GATA-binding factor 2 (GATA2) deficiency is a genetic disorder characterized by prominent infectious and noninfectious pulmonary manifestations. Even though most patients with GATA2 deficiency seek medical attention for dyspnea and exercise intolerance, lung function data for this syndrome are scarce and rather inconclusive. Objective: To provide a comprehensive examination of lung function and quantitative computed tomography (CT) data and to assess responses to incremental exercise in a 38.5-year-old man with GATA2 deficiency and myelodysplastic syndrome, breathlessness, and normal spirometry. Methods: Lung volumes, spirometry, and single breath lung diffusing capacities for carbon monoxide (DL Results: Dyspnea and exercise intolerance were associated with Conclusions: This case study illustrates how clinical medicine benefits from applying the basic principles of respiratory physiology both at rest and during exercise to discern the mechanisms of dyspnea and exercise intolerance.
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