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., ...Daha Fazla

JOURNAL OF CLINICAL IMMUNOLOGY, cilt.34, sa.6, ss.601-606, 2014 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 34 Sayı: 6
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1007/s10875-014-0059-7
  • Dergi Adı: JOURNAL OF CLINICAL IMMUNOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.601-606
  • Anahtar Kelimeler: IPEX, FOXP3, clinical heterogeneity, lung involvement, REGULATORY T-CELLS, IMMUNE DYSREGULATION, IPEX SYNDROME, FOXP3, MUTATIONS, GENES
  • Marmara Üniversitesi Adresli: Evet

Özet

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.