Defects in ciliary arrangement a simulator of an inborn error of immunity.

Defects in ciliary arrangement a simulator of an inborn error of immunity.

We described a pulmonology case that simulated an inborn error of immunity.

Case presentation
Female eight years old with the relevant antecedent of recurrent pneumonia (1,2, 3, and 5 years) and many upper airway infections in the last year. Some events required hospitalization and treatment with parenteral antibiotics. We started a diagnostic protocol for inborn error of immunity (IEI). The immunization scheme was adequate for age, without antecedent of consanguinity, and no deaths of members in first grade. The physical examination identified adequate nutritional status (Z=1.47), bilateral turbinate hypertrophy, and no adenopathy/ visceromegaly. Paraclinical studies: WBC-6240 cell/mm3, neutrophils-3530 cell/mm3. Flow cytometry (cell/ml): CD45=1769, CD3=1270, CD4=348, CD8=848, CD4/CD8=0.41, HIV-negative antibodies. Immunoglobulins (mg/dL): IgG 1150, IgM 112, IgA 165, and IgE 234UI/L. Complement (mg/dL) C3=123, C4=26. CT shows bronchiectasis in the middle lobe and laminar atelectasis in the right lower lobe. Without evidence suggesting an IEI, we decided to perform a bronchoscopy; macroscopic findings identified chronic inflammatory changes in the entire tracheobronchial tree. However, the biopsy showed ciliary dyskinesia type V according to Barlocco’s classification. We concluded the approach with this result and applied a 23-valent pneumococcal polysaccharide vaccine.

We started a medical approach due to a suspicion of IEI relative to humoral deficiencies. However, the laboratories were standard except for CD4, probably concerning consumption. Due to the necessity of a specific and rapid diagnosis, we evaluated other causes of recurrent infections. In this case, we identified a primary ciliary dyskinesia type V, a rare genetic disorder characterized by severely impaired mucociliary clearance. This condition may lead to chronic sino-pulmonary disease and bronchiectasis without altered immunity function. All kinds of ciliary dyskinesia require hospitality management and should be considered a differential diagnostic of IEI.

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