Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome Manifesting as Lymphocytic Interstitial Pneumonia and Treatment-Resistant Bullous Pemphigoid

Pediatr Allergy Immunol Pulmonol. 2021 Jun;34(2):76-79. doi: 10.1089/ped.2020.1307.

Abstract

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare immune deficiency with a broad clinical presentation. IPEX syndrome causes dysfunctional regulatory T cells, increasing the risk of autoimmune diseases. In this case report, we describe a 7-year-old boy with lymphocytic interstitial pneumonia and bullous pemphigoid who was recently diagnosed with IPEX syndrome.

Keywords: IPEX; bullous pemphigoid; lymphocytic interstitial pneumonia.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Diabetes Mellitus, Type 1 / congenital
  • Diarrhea
  • Forkhead Transcription Factors
  • Genetic Diseases, X-Linked
  • Humans
  • Immune System Diseases / congenital
  • Lung Diseases, Interstitial* / diagnosis
  • Lung Diseases, Interstitial* / genetics
  • Male
  • Pemphigoid, Bullous* / diagnosis
  • Pemphigoid, Bullous* / drug therapy
  • Pemphigoid, Bullous* / genetics
  • T-Lymphocytes, Regulatory

Substances

  • Forkhead Transcription Factors

Supplementary concepts

  • Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked Syndrome