Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked Syndrome in Two Siblings: Same Mutation But Different Clinical Manifestations at Onset
JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, cilt.14, sa.3, ss.361-365, 2022 (SCI-Expanded, Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 14 Sayı: 3
- Basım Tarihi: 2022
- Doi Numarası: 10.4274/jcrpe.galenos.2021.2021.0005
- Dergi Adı: JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.361-365
- Anahtar Kelimeler: Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome, neonatal diabetes, renal disease, FEATURES
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Karadeniz Teknik Üniversitesi Adresli: Evet
Özet
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is an early onset systemic autoimmune genetic disorder caused by mutation of the forkhead box protein 3 (FOXP3) gene. Enteropathy, endocrinopathy and skin manifestations are considered the classic triad of IPEX syndrome. However, patients with IPEX syndrome display a variety of phenotypes including life threatening multi-organ autoimmunity. Here, we present the case of two siblings with IPEX syndrome with the same hemizygous mutation, but with different types of symptomology at onset of the disease.