In case of recurrent wheezing and bronchiolitis: Think again, it may be a primary immunodeficiency

Abstract

Background: Wheezing, starting early in life, is a heterogeneous medical condition caused by airway obstruction due to different underlying mechanisms. Primary immunodeficiencies are also among the risk factors that cause wheezing and recurrent bronchiolitis. ADA deficiency is a primary immunodeficiency, also a rare metabolic disease associated with multisystemic clinical findings.Objective: This report will be helpful for adressing the importance of thinking primary immunodeficiency in case of wheezing and recurret bronchiolitis. Methods:The patient was diagnosed by using a targeted next generation sequencing PID panel. Lymphocyte subsets were measured by flow-cytometry.Results: Here we present an infant with ADA deficiency who admitted with wheezing and recurrent bronchiolitis as the first presentation. He was found to have wheezing, relative CD4+ T cell deficiency, and prolonged neutropenia. Conclusion:Primary immunodeficiencies including ADA deficiency should be considered in infants with wheezing, recurrent bronchiolitis, lymphopenia and neutropenia.

Risk Factors Affecting Development and Persistence of Preschool Wheezing: Consensus Document of the Emilia-Romagna Asthma (ERA) Study Group

“…The clinical spectrum presented by patients with PID is variable but increased susceptibility to infections is a common feature [ 181 ]. PID must be suspected in case of persistent wheeze refractory to therapies and a history of pulmonary or systemic infections with unusual organisms [ 182 ], although some data did not show an association between PIDs and recurrent wheezing [ 183 ].…”

“…The IgA antibodies present in the secretions play a major role in protecting from respiratory airways and gastrointestinal tract infections. In children, the main infections associated with IgA deficiency are pharyngotonsillitis, otitis, bronchitis, sinusitis and, less frequently, pneumonia [ 182 ].…”