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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10389042/ https://www.ncbi.nlm.nih.gov/pubmed/37528877 http://dx.doi.org/10.3389/fped.2023.1223191 |
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author | Thomas, Sanya Guenther, Geoffrey Rowe, Jared H. Platt, Craig D. Shimamura, Akiko Levy, Ofer Ganapathi, Lakshmi |
author_facet | Thomas, Sanya Guenther, Geoffrey Rowe, Jared H. Platt, Craig D. Shimamura, Akiko Levy, Ofer Ganapathi, Lakshmi |
author_sort | Thomas, Sanya |
collection | PubMed |
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. |
format | Online Article Text |
id | pubmed-10389042 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Frontiers Media S.A. |
record_format | MEDLINE/PubMed |
spelling | pubmed-103890422023-08-01 Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review Thomas, Sanya Guenther, Geoffrey Rowe, Jared H. Platt, Craig D. Shimamura, Akiko Levy, Ofer Ganapathi, Lakshmi Front Pediatr Pediatrics 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. Frontiers Media S.A. 2023-07-17 /pmc/articles/PMC10389042/ /pubmed/37528877 http://dx.doi.org/10.3389/fped.2023.1223191 Text en © 2023 Thomas, Guenther, Rowe, Platt, Shimamura, Levy and Ganapathi. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY) (https://creativecommons.org/licenses/by/4.0/) . The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms. |
spellingShingle | Pediatrics Thomas, Sanya Guenther, Geoffrey Rowe, Jared H. Platt, Craig D. Shimamura, Akiko Levy, Ofer Ganapathi, Lakshmi Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review |
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 | Pediatrics |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10389042/ https://www.ncbi.nlm.nih.gov/pubmed/37528877 http://dx.doi.org/10.3389/fped.2023.1223191 |
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