TY - JOUR
T1 - Gastric Adenocarcinoma in the Setting of IPEX Syndrome
AU - Steffin, David
AU - Bhar, Saleh
AU - Fishman, Douglas S.
AU - Rider, Nicholas L.
AU - Naik-Mathuria, Bindi
AU - Martinez, Caridad
AU - Venkatramani, Rajkumar
N1 - Publisher Copyright:
© 2021 David Steffin et al.
PY - 2021
Y1 - 2021
N2 - Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant FOXP3 expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic FOXP3 mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome.
AB - Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare X-linked disorder caused by a loss of function mutation in the FOXP3 gene. It manifests early in infancy with clinical symptoms including autoimmune enteropathy, type 1 diabetes mellitus, and eczema. While aberrant FOXP3 expression has been associated with several types of cancer, little is known regarding the risk of cancer in patients with IPEX harboring the characteristic FOXP3 mutation. Here, we present a unique case of a primary signet ring gastric adenocarcinoma in a pediatric patient with IPEX syndrome.
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U2 - 10.1155/2021/9967198
DO - 10.1155/2021/9967198
M3 - Article
C2 - 34258086
AN - SCOPUS:85138092578
SN - 2090-6609
VL - 2021
JO - Case Reports in Immunology
JF - Case Reports in Immunology
M1 - 9967198
ER -