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231225s2020 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2020.108365
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|a eng
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1 |
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|a Essa, Mohammed F
|e verfasserin
|4 aut
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|a Successful hematopoietic stem cell transplant in leukocyte adhesion deficiency type III presenting primarily as malignant infantile osteopetrosis
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|c 2020
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|a Text
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|a ƒaComputermedien
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|a Date Completed 19.10.2020
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|a Date Revised 15.01.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2020 Elsevier Inc. All rights reserved.
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|a Leukocyte adhesion deficiency type III (LAD-III) is caused by mutations in FERMT3 that encodes Kindlin-3 which regulates integrins activation. LAD-III predisposes to infections and bleeding. Osteopetrosis was reported in some cases. We report three patients who presented as malignant infantile osteopetrosis. One had recurrent infections and none had bleeding. Exome sequencing revealed a novel homozygous mutation in FERMT3 c.1555C > T (p.Gln519Ter). Two patients underwent successful hematopoietic stem cell transplant (HSCT) from matched siblings with resolution of osteopetrosis. The third patient died secondary to sepsis prior to HSCT. Our results support early HSCT in LAD-III prior to the occurrence of life-threatening complications
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|a Case Reports
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|a Journal Article
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|a FERMT3 protein, human
|2 NLM
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|a Membrane Proteins
|2 NLM
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|a Neoplasm Proteins
|2 NLM
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| 700 |
1 |
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|a Elbashir, Enas
|e verfasserin
|4 aut
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1 |
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|a Alroqi, Fayhan
|e verfasserin
|4 aut
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|a Mohammed, Reem
|e verfasserin
|4 aut
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|a Alsultan, Abdulrahman
|e verfasserin
|4 aut
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 213(2020) vom: 15. Apr., Seite 108365
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|x 1521-7035
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|g volume:213
|g year:2020
|g day:15
|g month:04
|g pages:108365
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