Clinical Heterogeneity of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked: Pulmonary Involvement as a Non-Classical Disease Manifestation


BARIŞ S. , Schulze I., Ozen A. O. , AYDINER E. , Altuncu E., Karasu G. T. , ...More

JOURNAL OF CLINICAL IMMUNOLOGY, vol.34, no.6, pp.601-606, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 34 Issue: 6
  • Publication Date: 2014
  • Doi Number: 10.1007/s10875-014-0059-7
  • Title of Journal : JOURNAL OF CLINICAL IMMUNOLOGY
  • Page Numbers: pp.601-606
  • Keywords: IPEX, FOXP3, clinical heterogeneity, lung involvement, REGULATORY T-CELLS, IMMUNE DYSREGULATION, IPEX SYNDROME, FOXP3, MUTATIONS, GENES

Abstract

IPEX (Immunodysregulation, Polyendocrinopathy, Enteropathy, X-linked) is a rare X-linked recessive life-threatening disorder characterized by autoimmunity and early death. Pulmonary complication related with IPEX has not been elucidated exactly. Here, we report 4 IPEX patients, 3 of which died from severe pulmonary disease.