Immunology and Host ResponseA Patient With AIRE Mutation Who Presented With Severe Diarrhea and Lung AbscessSoyak Aytekin, Elif MD*; Serin, Oguzhan MD†; Cagdas, Deniz MD, PhD*; Tan, Cagman PhD‡; Aksu, Tekin MD§; Unsal, Yagmur MD¶; Yeni, Selma MD∥; Orhan, Diclehan MD∥; Ozon, Zeynep Alev MD¶; Tezcan, Ilhan MD, PhD*Author Information From the *Department of Pediatrics, Division of Pediatric Immunology, Hacettepe University Medical School, Ankara, Turkey †Department of Pediatrics, Hacettepe University Medical School, Ankara, Turkey ‡Institute of Child Health, Immunology, Hacettepe University, Ankara, Turkey §Department of Pediatrics, Division of Pediatric Hematology, Hacettepe University Medical School, Ankara, Turkey ¶Department of Pediatrics, Division of Pediatric Endocrinology and Metabolism, Hacettepe University Medical School, Ankara, Turkey ∥Department of Clinical Pathology, Hacettepe University Medical School, Ankara, Turkey. Accepted for publication July 13, 2020. The authors have no funding or conflicts of interest to disclose. Address for correspondence: Deniz Cagdas, MD, Department of Pediatric Immunology, İhsan Doğramaci Children’s Hospital, Hacettepe University Medical School, Ankara, Turkey. E-mail: [email protected]. The Pediatric Infectious Disease Journal: January 2021 - Volume 40 - Issue 1 - p 66-69 doi: 10.1097/INF.0000000000002887 Buy Metrics Abstract Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) (polyglandular endocrinopathy type 1) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE). The major clinical features of APECED are hypoparathyroidism, adrenal insufficiency (Addison disease), and chronic mucocutaneous candidiasis. This disease is also associated with multiple other and uncommon autoimmune (autoimmune hepatitis, autoimmune enteropathy, atrophic gastritis with or without pernicious anemia, gonadal failure, diabetes mellitus, hypothyroidism, functional hyposplenism), ectodermal (alopecia and vitiligo), and inflammatory (intestinal lung disease, nephritis) features. Here, we report a case of a 13-year-old Turkish boy who presented wih enteropathy and lung abscess. Molecular genetic analysis demonstrated a homozygous frameshift mutation (p.Asp70fs, c.208_209insCAGG) in exon 2, in AIRE gene. APECED may present with severe, life-threatening infections due to functional hyposplenism. Multidisciplinary approach, careful follow-up, and molecular genetic studies are needed. Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.