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Case Report: A 10-year-old unimmunized boy initially presented to the hospital at 18-months of age with pneumonia and failure to thrive. He had multiple infections including Escherichia coli urosepsis, viral croup, chronic otitis media with bilateral ruptured tympanic membranes, and bacterial pneumonia. On physical examination, he was ill appearing and had diffuse crackles. His laboratory work-up showed leukocytosis, normocytic anemia, undetectable immunoglobulin (Ig) G, A, and E, low IgM (28 mg/dL), absent B cell with normal T cell (7800 mm3) and NK cell (527 mm3) counts, and low zinc level (63 mcg/dL). Genetic testing was negative for Bruton tyrosine kinase (BTK). Ig replacement therapy (IgRT) was initiated. Despite therapy he had persistent chronic rhinosinusitis and chronic cough. Computed tomography (CT) scan of the sinus and chest showed pansinusitis and bronchiectasis with mucoid impaction, predominantly in the lower left lobe. He was treated with inhaled corticosteroids and chest physiotherapy. He underwent functional endoscopic sinus surgery and bronchoscopy, which showed non-typeable Haemophilus. He was then treated with a course of Augmentin. He also consistently grew below the 3rd percentile while his mid-parental target height is close to the 50th percentile. He was started on growth hormone and has responded well. Exome sequencing showed compound heterozygous variants in the SLC39A7 gene encoding the zinc transporter, ZIP7. This leads to an autosomal recessive agammaglobulinemia-9, a primary immunodeficiency syndrome with recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells. The family declined prophylactic antibiotics despite persistent infections. At 10 years of age, he continued to have worsening chronic sinusitis and bronchiectasis. A trial of prophylactic antibiotics with Amoxicillin was initiated. Discussion: Our patient is a 10-year-old male with compound heterozygous variants in SLC39A7 presenting with agammaglobulinemia, short stature, and bronchiectasis. He continued to have chronic recurrent sinopulmonary infections despite therapeutic IgG level on IgRT. Starting prophylactic antimicrobials earlier may be helpful in reducing lung injury and preventing infections
Allergy and Immunology | Medical Genetics | Medical Immunology | Pediatrics
Le, Thao; Farrow, Emily; Singh, Alvin; Thiffault, Isabelle; and Raje, Nikita, "Clinical Course of a Patient With Agammaglobulinemia Caused by SLC39A7 defect" (2023). Posters. 323.