PURPOSE: Primary ciliary dyskinesia (PCD) is a rare, heterogenous disorder. We report on three children with primary ciliary dyskinesia in association with immune abnormalities. Despite standard-of-care treatment for primary ciliary dyskinesia syndrome, these patients continued to have severe difficulty with recurrent sinopulmonary infection. In these children, the severity of symptoms and disease prompted further evaluation.
METHODS: Evaluation with pulmonary function tests, sweat chloride, quantitative immunoglobulins and nasociliary biopsy for primary ciliary dyskinesia were undertaken. The three children were diagnosed as having primary ciliary dyskinesia. Additional evaluation by a pediatric immunologist revealed that all three children had specific antibody deficiency and other immune aberrations.
RESULTS: Two patients were non-responsive to additional immunization and required IVIG. One patient with inhalent and food allergies in addition to selective antibody deficiency responded to immunization, environmental controls, allergy medication and avoidance of the foods to which he was sensitive. After initiating appropriate therapy, all the children's symptoms improved remarkably.
CONCLUSION: After diagnosis of and initiation of aggressive therapy for the identified immune aberrations, sinopulmonary disease control improved remarkably. To our knowledge, this is the first time in the literature that the association of PCD with primary immunodeficiency has been reported.
CLINICAL IMPLICATIONS: We recommend that unusually severe rhinosinusitis and pulmonary infection in patients receiving standard treatment for PCD prompt thorough evaluation for immune abnormalities and other factors that may adversely affect the course of PCD.
DISCLOSURE: Ramalinga Reddy, None.