Constitutional Mismatch Repair Deficiency Syndrome in a patient from India

This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and the associated challenge during CSF protein ele...

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Autores principales: Paul, Chandramallika, Chakraborty, Subhosmito, Chakraborty, Sarit, Goswami, Kalyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752390/
https://www.ncbi.nlm.nih.gov/pubmed/33363830
http://dx.doi.org/10.1002/ccr3.3249
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author Paul, Chandramallika
Chakraborty, Subhosmito
Chakraborty, Sarit
Goswami, Kalyan
author_facet Paul, Chandramallika
Chakraborty, Subhosmito
Chakraborty, Sarit
Goswami, Kalyan
author_sort Paul, Chandramallika
collection PubMed
description This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and the associated challenge during CSF protein electrophoresis interpretation.
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spelling pubmed-77523902020-12-23 Constitutional Mismatch Repair Deficiency Syndrome in a patient from India Paul, Chandramallika Chakraborty, Subhosmito Chakraborty, Sarit Goswami, Kalyan Clin Case Rep Case Reports This report highlights an extremely rare genetic condition constitutional mismatch repair deficiency (CMMRD) in an Indian pediatric patient with dual malignancies, who suffered from transient encephalopathy, a rare side effect of the drug Nivolumab and the associated challenge during CSF protein electrophoresis interpretation. John Wiley and Sons Inc. 2020-09-03 /pmc/articles/PMC7752390/ /pubmed/33363830 http://dx.doi.org/10.1002/ccr3.3249 Text en © 2020 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Paul, Chandramallika
Chakraborty, Subhosmito
Chakraborty, Sarit
Goswami, Kalyan
Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
title Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
title_full Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
title_fullStr Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
title_full_unstemmed Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
title_short Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
title_sort constitutional mismatch repair deficiency syndrome in a patient from india
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7752390/
https://www.ncbi.nlm.nih.gov/pubmed/33363830
http://dx.doi.org/10.1002/ccr3.3249
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AT chakrabortysarit constitutionalmismatchrepairdeficiencysyndromeinapatientfromindia
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