Constitutional Mismatch Repair Deficiency Syndrome in a patient from India
Abstract 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 pr...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-12-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.3249 |
| _version_ | 1819095842092482560 |
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| author | Chandramallika Paul Subhosmito Chakraborty Sarit Chakraborty Kalyan Goswami |
| author_facet | Chandramallika Paul Subhosmito Chakraborty Sarit Chakraborty Kalyan Goswami |
| author_sort | Chandramallika Paul |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-21T23:49:43Z |
| format | Article |
| id | doaj.art-203d21e52bb14c31a1b1bbf63ac61fc3 |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-21T23:49:43Z |
| publishDate | 2020-12-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-203d21e52bb14c31a1b1bbf63ac61fc32022-12-21T18:45:57ZengWileyClinical Case Reports2050-09042020-12-018122823282510.1002/ccr3.3249Constitutional Mismatch Repair Deficiency Syndrome in a patient from IndiaChandramallika Paul0Subhosmito Chakraborty1Sarit Chakraborty2Kalyan Goswami3Department of Biochemistry All India Institute of Medical Sciences (AIIMS‐Kalyani) Kalyani IndiaDepartment of Clinical Biochemistry TATA Medical Center Kolkata IndiaDepartment of Computer Science Engineering Government College of Engineering & Leather Technology Kolkata IndiaDepartment of Biochemistry All India Institute of Medical Sciences (AIIMS‐Kalyani) Kalyani IndiaAbstract 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.https://doi.org/10.1002/ccr3.3249constitutional mismatch repair deficiencyelectrophoresismicrosatellite instability |
| spellingShingle | Chandramallika Paul Subhosmito Chakraborty Sarit Chakraborty Kalyan Goswami Constitutional Mismatch Repair Deficiency Syndrome in a patient from India Clinical Case Reports constitutional mismatch repair deficiency electrophoresis microsatellite instability |
| 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 | constitutional mismatch repair deficiency electrophoresis microsatellite instability |
| url | https://doi.org/10.1002/ccr3.3249 |
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