title: Asthma associated with incontinentia pigmenti and Fanconi anemia: variable airflow limitation without cellular bronchitis.
abstract: Airway inflammation is considered a central component of asthma and, therefore, international guidelines recommend antiinflammatory medications. We describe the clinical history of a 34-year-old woman with airway hyperresponsiveness and asthma who had a reduced ability to mount an inflammatory response due to two unrelated and rare genetic conditions: Fanconi anemia and incontinentia pigmenti. Absence of eosinophils in blood and sputum led to a successful reduction in the dose of corticosteroids without loss of asthma control demonstrating the clinical utility of monitoring treatment using biomarkers and the importance of recognizing the components of airway diseases that contribute to symptoms.
authors: Divisions of Respirology, McMaster University, Hamilton, ON, Canada.
authors: Angira
authors: A
authors: Dasgupta
authors: Divisions of Respirology, McMaster University, Hamilton, ON, Canada.
authors: May S
authors: MS
authors: Sanaee
authors: McMaster Immunology Research Centre Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
authors: Carla M T
authors: CMT
authors: Bauer
authors: McMaster Immunology Research Centre Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
authors: Fernando M
authors: FM
authors: Botelho
authors: Hematology, Department of Medicine, McMaster University, Hamilton, ON, Canada.
authors: Donald M
authors: DM
authors: Arnold
authors: Divisions of Respirology, McMaster University, Hamilton, ON, Canada; McMaster Immunology Research Centre Department of Pathology and Molecular Medicine, McMaster University, Hamilton, ON, Canada.
authors: Martin R
authors: MR
authors: Stampfli
authors: Divisions of Respirology, McMaster University, Hamilton, ON, Canada. Electronic address: parames@mcmaster.ca.
authors: Parameswaran
authors: P
authors: Nair
mesh_terms: D000328:Adult; D001249:Asthma / Q000453:epidemiology*; D015897:Comorbidity; D004804:Eosinophils / Q000378:metabolism; D005199:Fanconi Anemia / Q000453:epidemiology*; D005260:Female; D006801:Humans; D007184:Incontinentia Pigmenti / Q000453:epidemiology* / Q000235:genetics; D013183:Sputum / Q000166:cytology / Q000378:metabolism