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HLA analysis of immune checkpoint inhibitor-induced and idiopathic isolated ACTH deficiency

Ono, Mayo ; Fukuda, Izumi ; Nagao, Mototsugu LU ; Tomiyama, Keiko ; Okazaki-Hada, Mikiko ; Shuto, Yuki ; Kobayashi, Shunsuke ; Yamaguchi, Yuji ; Nagamine, Tomoko and Nakajima, Yasushi , et al. (2022) In Pituitary 25(4). p.615-621
Abstract

PURPOSE: Isolated adrenocorticotropic hormone deficiency is a rare disease; however, since immune check point inhibitors (ICIs) have become widely used, many more cases have been reported. In this study, we compared the human leukocyte antigen (HLA) signatures between ICI-induced isolated adrenocorticotropic hormone deficiency (IAD) and idiopathic IAD (IIAD).

DESIGN AND METHODS: Clinical features and HLA frequencies were compared among 13 patients with ICI-induced IAD, 8 patients with IIAD, and healthy controls. HLA frequencies of healthy controls were adopted from a HLA database of Japanese population.

RESULTS: Age and body mass index were higher, while the rate of weight loss was lower, in patients with ICI-induced IAD... (More)

PURPOSE: Isolated adrenocorticotropic hormone deficiency is a rare disease; however, since immune check point inhibitors (ICIs) have become widely used, many more cases have been reported. In this study, we compared the human leukocyte antigen (HLA) signatures between ICI-induced isolated adrenocorticotropic hormone deficiency (IAD) and idiopathic IAD (IIAD).

DESIGN AND METHODS: Clinical features and HLA frequencies were compared among 13 patients with ICI-induced IAD, 8 patients with IIAD, and healthy controls. HLA frequencies of healthy controls were adopted from a HLA database of Japanese population.

RESULTS: Age and body mass index were higher, while the rate of weight loss was lower, in patients with ICI-induced IAD than in those with IIAD. No HLA alleles had a significantly higher frequency in patients with ICI-induced IAD than in healthy controls, whereas the frequencies of HLA-DRB1*09:01, HLA-DQA1*03:02, and DQB1*03:03 were significantly higher in patients with IIAD than in healthy controls.

CONCLUSIONS: ICI-induced IAD and IIAD were different in terms of HLA frequencies. There were no specific HLAs related to ICI-induced IAD, whereas several HLAs in strong linkage disequilibrium were associated with IIAD. This might suggest that the two diseases have different pathological mechanisms. HLAs unique to IIAD may be helpful in predicting its pathophysiology.

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publishing date
type
Contribution to journal
publication status
published
keywords
Adrenal Insufficiency, Adrenocorticotropic Hormone/deficiency, Alleles, Endocrine System Diseases, Gene Frequency, Genetic Diseases, Inborn, Humans, Hypoglycemia, Immune Checkpoint Inhibitors
in
Pituitary
volume
25
issue
4
pages
615 - 621
publisher
Springer
external identifiers
  • scopus:85131308176
  • pmid:35653047
ISSN
1573-7403
DOI
10.1007/s11102-022-01231-1
language
English
LU publication?
no
additional info
© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.
id
6bacad0a-6eff-4c9c-a867-a29a2712a525
date added to LUP
2023-01-12 02:08:30
date last changed
2024-06-13 15:07:56
@article{6bacad0a-6eff-4c9c-a867-a29a2712a525,
  abstract     = {{<p>PURPOSE: Isolated adrenocorticotropic hormone deficiency is a rare disease; however, since immune check point inhibitors (ICIs) have become widely used, many more cases have been reported. In this study, we compared the human leukocyte antigen (HLA) signatures between ICI-induced isolated adrenocorticotropic hormone deficiency (IAD) and idiopathic IAD (IIAD).</p><p>DESIGN AND METHODS: Clinical features and HLA frequencies were compared among 13 patients with ICI-induced IAD, 8 patients with IIAD, and healthy controls. HLA frequencies of healthy controls were adopted from a HLA database of Japanese population.</p><p>RESULTS: Age and body mass index were higher, while the rate of weight loss was lower, in patients with ICI-induced IAD than in those with IIAD. No HLA alleles had a significantly higher frequency in patients with ICI-induced IAD than in healthy controls, whereas the frequencies of HLA-DRB1*09:01, HLA-DQA1*03:02, and DQB1*03:03 were significantly higher in patients with IIAD than in healthy controls.</p><p>CONCLUSIONS: ICI-induced IAD and IIAD were different in terms of HLA frequencies. There were no specific HLAs related to ICI-induced IAD, whereas several HLAs in strong linkage disequilibrium were associated with IIAD. This might suggest that the two diseases have different pathological mechanisms. HLAs unique to IIAD may be helpful in predicting its pathophysiology.</p>}},
  author       = {{Ono, Mayo and Fukuda, Izumi and Nagao, Mototsugu and Tomiyama, Keiko and Okazaki-Hada, Mikiko and Shuto, Yuki and Kobayashi, Shunsuke and Yamaguchi, Yuji and Nagamine, Tomoko and Nakajima, Yasushi and Inagaki-Tanimura, Kyoko and Sugihara, Hitoshi}},
  issn         = {{1573-7403}},
  keywords     = {{Adrenal Insufficiency; Adrenocorticotropic Hormone/deficiency; Alleles; Endocrine System Diseases; Gene Frequency; Genetic Diseases, Inborn; Humans; Hypoglycemia; Immune Checkpoint Inhibitors}},
  language     = {{eng}},
  number       = {{4}},
  pages        = {{615--621}},
  publisher    = {{Springer}},
  series       = {{Pituitary}},
  title        = {{HLA analysis of immune checkpoint inhibitor-induced and idiopathic isolated ACTH deficiency}},
  url          = {{http://dx.doi.org/10.1007/s11102-022-01231-1}},
  doi          = {{10.1007/s11102-022-01231-1}},
  volume       = {{25}},
  year         = {{2022}},
}