Detection of AIRE Mutation in Atypical Autoimmune Polyglandular Syndrome Type 1 (APS1)

Ines Guttmann-Bauman; Jing Da Shi; Cong Yi Wang; Jin Xiong She; Ines Guttmann-Bauman

doi:10.1515/IJDHD.2001.2.2.115

Detection of AIRE Mutation in Atypical Autoimmune Polyglandular Syndrome Type 1 (APS1)

Ines Guttmann-Bauman^*
, Jing Da Shi
, Cong Yi Wang
, Jin Xiong She
, Ines Guttmann-Bauman^*

^*Corresponding author for this work

Children's National Medical Center
University of Florida
Department of Pathology

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

Abstract

We describe several members of a family in which the R257X mutation in the AIRE gene responsible for autoimmune polyglandular syndrome type 1 (APS1) was found. The daughter, who is homozygous for the mutation, presented with a range of clinical pathology, including immunoglobulin deficiencies, mucocutaneous candidiaisis and hypothyroidism. Although this patient does not meet the strict clinical diagnostic criteria of APS1, genetic testing made a definitive diagnosis of APS1 and suggested that other APS1 component diseases may appear in this patient in the future. Our study demonstrates the power of screening for the AIRE mutations in all patients who present with one or more APS1-component diseases; genetic testing may become a part of routine clinical care for all such patients.

Original language	English
Pages (from-to)	115-122
Number of pages	8
Journal	International Journal on Disability and Human Development
Volume	2
Issue number	2
DOIs	https://doi.org/10.1515/IJDHD.2001.2.2.115
Publication status	Published - 2001
Externally published	Yes

Keywords

autoimmune polyendocrinopathy-candidi-asis-ectodermal dystrophy (APECED)
autoimmune polyglandular syndrome type 1 (APS1)
autoimmune regulator (AIRE) gene mutations
immunoglobulin deficiencies

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10.1515/IJDHD.2001.2.2.115

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title = "Detection of AIRE Mutation in Atypical Autoimmune Polyglandular Syndrome Type 1 (APS1)",

abstract = "We describe several members of a family in which the R257X mutation in the AIRE gene responsible for autoimmune polyglandular syndrome type 1 (APS1) was found. The daughter, who is homozygous for the mutation, presented with a range of clinical pathology, including immunoglobulin deficiencies, mucocutaneous candidiaisis and hypothyroidism. Although this patient does not meet the strict clinical diagnostic criteria of APS1, genetic testing made a definitive diagnosis of APS1 and suggested that other APS1 component diseases may appear in this patient in the future. Our study demonstrates the power of screening for the AIRE mutations in all patients who present with one or more APS1-component diseases; genetic testing may become a part of routine clinical care for all such patients.",

keywords = "autoimmune polyendocrinopathy-candidi-asis-ectodermal dystrophy (APECED), autoimmune polyglandular syndrome type 1 (APS1), autoimmune regulator (AIRE) gene mutations, immunoglobulin deficiencies",

author = "Ines Guttmann-Bauman and Shi, \{Jing Da\} and Wang, \{Cong Yi\} and She, \{Jin Xiong\} and Ines Guttmann-Bauman",

year = "2001",

doi = "10.1515/IJDHD.2001.2.2.115",

language = "English",

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pages = "115--122",

journal = "International Journal on Disability and Human Development",

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AU - Guttmann-Bauman, Ines

AU - Shi, Jing Da

AU - Wang, Cong Yi

AU - She, Jin Xiong

AU - Guttmann-Bauman, Ines

PY - 2001

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N2 - We describe several members of a family in which the R257X mutation in the AIRE gene responsible for autoimmune polyglandular syndrome type 1 (APS1) was found. The daughter, who is homozygous for the mutation, presented with a range of clinical pathology, including immunoglobulin deficiencies, mucocutaneous candidiaisis and hypothyroidism. Although this patient does not meet the strict clinical diagnostic criteria of APS1, genetic testing made a definitive diagnosis of APS1 and suggested that other APS1 component diseases may appear in this patient in the future. Our study demonstrates the power of screening for the AIRE mutations in all patients who present with one or more APS1-component diseases; genetic testing may become a part of routine clinical care for all such patients.

AB - We describe several members of a family in which the R257X mutation in the AIRE gene responsible for autoimmune polyglandular syndrome type 1 (APS1) was found. The daughter, who is homozygous for the mutation, presented with a range of clinical pathology, including immunoglobulin deficiencies, mucocutaneous candidiaisis and hypothyroidism. Although this patient does not meet the strict clinical diagnostic criteria of APS1, genetic testing made a definitive diagnosis of APS1 and suggested that other APS1 component diseases may appear in this patient in the future. Our study demonstrates the power of screening for the AIRE mutations in all patients who present with one or more APS1-component diseases; genetic testing may become a part of routine clinical care for all such patients.

KW - autoimmune polyendocrinopathy-candidi-asis-ectodermal dystrophy (APECED)

KW - autoimmune polyglandular syndrome type 1 (APS1)

KW - autoimmune regulator (AIRE) gene mutations

KW - immunoglobulin deficiencies

UR - https://www.scopus.com/pages/publications/85025294904

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M3 - Article

AN - SCOPUS:85025294904

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JO - International Journal on Disability and Human Development

JF - International Journal on Disability and Human Development

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ER -

Detection of AIRE Mutation in Atypical Autoimmune Polyglandular Syndrome Type 1 (APS1)

Abstract

Keywords

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