Severe congenital neutropenia due to jagunal homolog 1 (JAGN1) mutation: a case report and literature review

被引:1
|
作者
Thomas, Sanya [1 ,2 ]
Guenther, Geoffrey [2 ,3 ]
Rowe, Jared H. [2 ,4 ,5 ]
Platt, Craig D. [2 ,6 ]
Shimamura, Akiko [2 ,7 ,8 ]
Levy, Ofer [1 ,2 ,3 ,9 ]
Ganapathi, Lakshmi [2 ,10 ,11 ]
机构
[1] Boston Childrens Hosp, Dept Pediat, Precis Vaccines Program, Boston, MA 02115 USA
[2] Harvard Med Sch, Boston, MA 02115 USA
[3] Boston Childrens Hosp, Div Infect Dis, Boston, MA USA
[4] Boston Childrens Hosp, Div Hematol, Boston, MA USA
[5] Dana Farber Canc Inst, Div Pediat Oncol, Boston, MA USA
[6] Boston Childrens Hosp, Div Immunol, Boston, MA USA
[7] Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA
[8] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA USA
[9] Broad Inst MIT & Harvard, Cambridge, MA USA
[10] Massachusetts Gen Hosp, Div Pediat Global Hlth, Boston, MA USA
[11] Massachusetts Gen Hosp, Div Pediat Infect Dis, Boston, MA USA
来源
FRONTIERS IN PEDIATRICS | 2023年 / 11卷
关键词
JAGN1; congenital; neutropenia; children; severe congenital neutropenia (SCN);
D O I
10.3389/fped.2023.1223191
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
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.
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页数:8
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