Gastric Adenocarcinoma in the Setting of IPEX Syndrome

David Steffin; Saleh Bhar; Douglas S. Fishman; Nicholas L. Rider; Bindi Naik-Mathuria; Caridad Martinez; Rajkumar Venkatramani

doi:10.1155/2021/9967198

Gastric Adenocarcinoma in the Setting of IPEX Syndrome

David Steffin
, Saleh Bhar
, Douglas S. Fishman
, Nicholas L. Rider
, Bindi Naik-Mathuria
, Caridad Martinez
, Rajkumar Venkatramani

Research output: Contribution to journal › Article › peer-review

3 Scopus citations

Abstract

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.

Original language	English (US)
Article number	9967198
Journal	Case Reports in Immunology
Volume	2021
DOIs	https://doi.org/10.1155/2021/9967198
State	Published - 2021
Externally published	Yes

ASJC Scopus subject areas

Immunology and Allergy
Immunology

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title = "Gastric Adenocarcinoma in the Setting of IPEX Syndrome",

abstract = "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.",

author = "David Steffin and Saleh Bhar and Fishman, \{Douglas S.\} and Rider, \{Nicholas L.\} and Bindi Naik-Mathuria and Caridad Martinez and Rajkumar Venkatramani",

note = "Publisher Copyright: {\textcopyright} 2021 David Steffin et al.",

year = "2021",

doi = "10.1155/2021/9967198",

language = "English (US)",

volume = "2021",

journal = "Case Reports in Immunology",

issn = "2090-6609",

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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

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.

UR - https://www.scopus.com/pages/publications/85138092578

UR - https://www.scopus.com/pages/publications/85138092578#tab=citedBy

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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 -

Gastric Adenocarcinoma in the Setting of IPEX Syndrome

Abstract

ASJC Scopus subject areas

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