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Adenoid Hyperplasia in a Patient With a Rare Type of Hyper Immunoglobulin M Syndrome Due to Cd40 Deficiency



Bahrami A1 ; Soltani Z1 ; Fazlollahi MR2 ; Rahmani F3, 4, 5 ; Houshmand M6 ; Mazinani M2 ; Rezaei N3, 4, 7
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Authors Affiliations
  1. 1. Division of Allergy and Immunology, Ali-Asghar Hospital, Iran University of Medical Sciences, Tehran, Iran
  2. 2. Immunology, Asthma and Allergy Research Institute, Tehran University of Medical Sciences, Tehran, Iran
  3. 3. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  4. 4. Network of Immunology in Infections, Malignancy, and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  5. 5. NeuroImaging Network (NIN), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  6. 6. Department of Medical Genetics, National Institute of Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran
  7. 7. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Source: Acta Medica Iranica Published:2018

Abstract

CD40 deficiency yield to an autosomal recessive subtype of hyper-immunoglobulin M syndrome (HGIM type 3), presenting with an almost identical clinical picture to X-linked CD40L deficiency (HIGM type 1) with profound T-cell dysfunction yielding to opportunistic infections as well as neutropenia, autoimmunity, and malignancy. We presented a girl with recurrent upper respiratory tract infections and lymphoid hyperplasia which was diagnosed with type 3 hyper IgM syndrome due to CD40 gene mutation. Otitis media with opportunistic germs and no evidence for an X-linked pattern of inheritance were diagnostic keys to type 3 hyper IgM syndrome in our patient. © 2018 Tehran University of Medical Sciences. All rights reserved.
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