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231225s2022 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2022.108933
|2 doi
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|a pubmed24n1224.xml
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|a eng
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|a Tomomasa, Dan
|e verfasserin
|4 aut
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|a Early diagnosis of partial interferon-γ receptor 1 deficiency prevents the development of Bacille de Calmette et Guérin osteomyelitis
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|c 2022
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
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|2 rdamedia
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|a ƒa Online-Ressource
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|a Date Completed 23.02.2022
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|a Date Revised 13.12.2023
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2022 Elsevier Inc. All rights reserved.
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|a We encountered two patients with partial interferon γ receptor 1 (IFN-γR1) deficiency in whom early diagnosis enhanced disease management. Patient 1 was a 44-year-old woman with enlarged lymph nodes diagnosed in a pre-pregnancy checkup, and pathological examination revealed a Mycobacterium avium infection. Based on her history of unknown multiple osteomyelitis during early childhood, mendelian susceptibility to mycobacterial disease was suspected. Genetic analysis revealed a novel heterozygous variant in IFNGR1. Genetic counseling was administered to the patient and her husband before they had their baby. Patient 2 was a 4-month-old boy whose father was previously diagnosed with autosomal dominant IFN-γR1 deficiency owing to Bacille de Calmette et Guérin (BCG) osteomyelitis. Genetic analysis showed that he had the same INFGR1 variant. He avoided BCG vaccination and has been disease-free since then. Early diagnosis is considered to be useful for genetic counseling and essential for preventing BCG osteomyelitis
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|a Journal Article
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|a Bacille de Calmette et Guérin osteomyelitis
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|a Partial interferon-γ receptor 1 deficiency
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|a BCG Vaccine
|2 NLM
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| 650 |
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|a Receptors, Interferon
|2 NLM
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| 700 |
1 |
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|a Tanita, Kay
|e verfasserin
|4 aut
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| 700 |
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|a Higashi, Seishi
|e verfasserin
|4 aut
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| 700 |
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|a Tasaka, Yuri
|e verfasserin
|4 aut
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| 700 |
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|a Shimamura, Takashi
|e verfasserin
|4 aut
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| 700 |
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|a Sakurai, Urara
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Matsubara, Tomoyo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Okada, Satoshi
|e verfasserin
|4 aut
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| 700 |
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|a Morio, Tomohiro
|e verfasserin
|4 aut
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| 700 |
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|a Kanegane, Hirokazu
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 235(2022) vom: 01. Feb., Seite 108933
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|g volume:235
|g year:2022
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