Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review
Severe congenital neutropenia caused by jagunal homolog 1 (JAGN1) mutation is a rare condition resulting from maturation arrest secondary to endoplasmic reticulum stress response from impaired neutrophil protein glycosylation. Here, we report a case of a 4-year-old boy who presented with a history o...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-07-01
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| Series: | Frontiers in Pediatrics |
| Subjects: | |
| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2023.1223191/full |
| _version_ | 1797778102920675328 |
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| author | Sanya Thomas Sanya Thomas Geoffrey Guenther Geoffrey Guenther Jared H. Rowe Jared H. Rowe Craig D. Platt Craig D. Platt Akiko Shimamura Akiko Shimamura Ofer Levy Ofer Levy Ofer Levy Ofer Levy Lakshmi Ganapathi Lakshmi Ganapathi Lakshmi Ganapathi |
| author_facet | Sanya Thomas Sanya Thomas Geoffrey Guenther Geoffrey Guenther Jared H. Rowe Jared H. Rowe Craig D. Platt Craig D. Platt Akiko Shimamura Akiko Shimamura Ofer Levy Ofer Levy Ofer Levy Ofer Levy Lakshmi Ganapathi Lakshmi Ganapathi Lakshmi Ganapathi |
| author_sort | Sanya Thomas |
| collection | DOAJ |
| description | Severe congenital neutropenia caused by jagunal homolog 1 (JAGN1) mutation is a rare condition resulting from maturation arrest secondary to endoplasmic reticulum stress response from impaired neutrophil protein glycosylation. Here, we report a case of a 4-year-old boy who presented with a history of recurrent infections and manifestations, including recurrent intracranial hemorrhage. A review of similar cases reported in the literature indicates that a bleeding diathesis has not been previously described in these patients. We hypothesize that this newly described association of bleeding complications in this patient with JAGN1 mutation is secondary to defective glycosylation in the normal functioning of platelets or clotting factors. Recurrent infections with intracranial hemorrhage, new focal neurologic defects, or altered mental status in a child should warrant a suspicion for this immunodeficiency for the prompt initiation of treatment and prophylaxis for life-threatening infections or trauma. |
| first_indexed | 2024-03-12T23:13:30Z |
| format | Article |
| id | doaj.art-6bee8d4495b94aa783dc4859f020c704 |
| institution | Directory Open Access Journal |
| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-03-12T23:13:30Z |
| publishDate | 2023-07-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj.art-6bee8d4495b94aa783dc4859f020c7042023-07-17T18:24:42ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602023-07-011110.3389/fped.2023.12231911223191Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature reviewSanya Thomas0Sanya Thomas1Geoffrey Guenther2Geoffrey Guenther3Jared H. Rowe4Jared H. Rowe5Craig D. Platt6Craig D. Platt7Akiko Shimamura8Akiko Shimamura9Ofer Levy10Ofer Levy11Ofer Levy12Ofer Levy13Lakshmi Ganapathi14Lakshmi Ganapathi15Lakshmi Ganapathi16Precision Vaccines Program, Department of Pediatrics, Boston Children’s Hospital, Boston, MA, United StatesHarvard Medical School, Boston, MA, United StatesHarvard Medical School, Boston, MA, United StatesDivision of Infectious Diseases, Boston Children’s Hospital, Boston, MA, United StatesHarvard Medical School, Boston, MA, United StatesDivision of Hematology, Boston Children’s Hospital and Division of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, United StatesHarvard Medical School, Boston, MA, United StatesDivision of Immunology, Boston Children’s Hospital, Boston, MA, United StatesHarvard Medical School, Boston, MA, United StatesDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, MA, United StatesPrecision Vaccines Program, Department of Pediatrics, Boston Children’s Hospital, Boston, MA, United StatesHarvard Medical School, Boston, MA, United StatesDivision of Infectious Diseases, Boston Children’s Hospital, Boston, MA, United StatesBroad Institute of MIT & Harvard, Cambridge, MA, United StatesHarvard Medical School, Boston, MA, United StatesDivision of Pediatric Global Health, Massachusetts General Hospital, Boston, MA, United StatesDivision of Pediatric Infectious Diseases, Massachusetts General Hospital, Boston, MA, United StatesSevere congenital neutropenia caused by jagunal homolog 1 (JAGN1) mutation is a rare condition resulting from maturation arrest secondary to endoplasmic reticulum stress response from impaired neutrophil protein glycosylation. Here, we report a case of a 4-year-old boy who presented with a history of recurrent infections and manifestations, including recurrent intracranial hemorrhage. A review of similar cases reported in the literature indicates that a bleeding diathesis has not been previously described in these patients. We hypothesize that this newly described association of bleeding complications in this patient with JAGN1 mutation is secondary to defective glycosylation in the normal functioning of platelets or clotting factors. Recurrent infections with intracranial hemorrhage, new focal neurologic defects, or altered mental status in a child should warrant a suspicion for this immunodeficiency for the prompt initiation of treatment and prophylaxis for life-threatening infections or trauma.https://www.frontiersin.org/articles/10.3389/fped.2023.1223191/fullJAGN1congenitalneutropeniachildrensevere congenital neutropenia (SCN) |
| spellingShingle | Sanya Thomas Sanya Thomas Geoffrey Guenther Geoffrey Guenther Jared H. Rowe Jared H. Rowe Craig D. Platt Craig D. Platt Akiko Shimamura Akiko Shimamura Ofer Levy Ofer Levy Ofer Levy Ofer Levy Lakshmi Ganapathi Lakshmi Ganapathi Lakshmi Ganapathi Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review Frontiers in Pediatrics JAGN1 congenital neutropenia children severe congenital neutropenia (SCN) |
| title | Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review |
| title_full | Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review |
| title_fullStr | Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review |
| title_full_unstemmed | Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review |
| title_short | Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review |
| title_sort | severe congenital neutropenia due to jagunal homolog 1 jagn1 mutation a case report and literature review |
| topic | JAGN1 congenital neutropenia children severe congenital neutropenia (SCN) |
| url | https://www.frontiersin.org/articles/10.3389/fped.2023.1223191/full |
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