Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review

被引：7

作者：

Velez-Tirado, Natalia ^{[1
]}

Yamazaki-Nakashimada, Marco Antonio ^{[2
]}

Lopez Valentin, Enrique ^{[3
]}

Partida-Gaytan, Armando ^{[4
]}

Scheffler-Mendoza, Selma C. ^{[2
]}

Chaia Semerena, Genny M. ^{[5
]}

Alvarez-Cardona, Aristoteles ^{[6
]}

Suarez Gutierrez, Marcos Alejandro ^{[6
]}

Medina Torres, Edgar Alejandro ^{[7
]}

Baeza Capetillo, Patricia ^{[8
,9
]}

Hirschmugl, Tatjana ^{[10
]}

Garncarz, Wojciech ^{[10
]}

Espinosa-Padilla, Sara Elva ^{[7
]}

Aguirre Hernandez, Jesus ^{[9
]}

Klein, Christoph ^{[15
]}

Boztug, Kaan ^{[10
,11
,12
,13
,14
]}

Lugo Reyes, Saul O.

机构：

[1] Clin Country, Clin Immunol, Bogota, Colombia

[2] Natl Inst Pediat, Clin Immunol Serv, Mexico City, DF, Mexico

[3] Hosp Nino Toluca, Dept Allergy, Toluca, Mexico

[4] Fdn Mexicana Ninos Con Inmunodeficiencias, Mexico City, DF, Mexico

[5] Hosp Angeles Metropolitano, Mexico City, DF, Mexico

[6] Unidad invest Inmunol Clin Alergia Aguasc, Aguascalientes, Aguascalientes, Mexico

[7] Natl Inst Pediat, Immune Deficiencies Lab, Mexico City, DF, Mexico

[8] Hosp Infantil Mexico Dr Federico Gomez, Dept Genet, Mexico City, DF, Mexico

[9] Hosp Infantil Mexico Dr Federico Gomez, Lab Genom Genet & Bioinformat, Mexico City, DF, Mexico

[10] Austrian Acad Sci, CeMM Res Ctr Mol Med, Vienna, Austria

[11] Ludwig Boltzmann Inst Rare & Undiagnosed Dis, Vienna, Austria

[12] St Anna Childrens Canc Res Inst CCRI, Vienna, Austria

[13] Med Univ Vienna, Dept Pediat & Adolescent Med, Vienna, Austria

[14] Med Univ Vienna, St Anna Childrens Hosp, Dept Pediat & Adolescent Med, Vienna, Austria

[15] Ludwig Maximilians Univ Munchen, Univ Hosp, Dr Hauner Childrens Hosp, Dept Pediat, Munich, Germany

来源：

SCANDINAVIAN JOURNAL OF IMMUNOLOGY | 2022年 / 95卷 / 04期

关键词：

case series; clinical features; Dursun syndrome; G6PC3; genetic variants; literature review; neutropenia; severe congenital neutropenia type 4; syndromic; MUTATIONS; DISEASE;

D O I：

10.1111/sji.13136

中图分类号：

R392 [医学免疫学]; Q939.91 [免疫学];

学科分类号：

100102 ;

摘要：

Background and objectives Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern and cardiovascular and urogenital malformations caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. Methods We reviewed our patients with G6PC3 deficiency diagnosed along the last decade in Mexico; we also searched the PubMed/Medline database for the terms ('G6PC3 deficiency' OR 'Dursun syndrome' OR 'Severe congenital neutropenia type 4'), and selected articles published in English from 2009 to 2020. Results We found 89 patients reported from at least 14 countries in 4 continents. We describe five new cases from Mexico. Of the 94 patients, 56% are male, 48% from Middle East countries and none of them had adverse reactions to live vaccines; all presented with at least 1 severe infection prior to age 2. Seventy-five per cent had syndromic features, mainly atrial septal defect in 55% and prominent superficial veins in 62%. Conclusions With a total of 94 patients reported in the past decade, we delineate the most frequent laboratory and genetic features, their treatment and outcomes, and to expand the knowledge of syndromic and non-syndromic phenotypes in these patients.

引用

页数：27

共 25 条

[1] A Novel G6PC3 Gene Mutation in a Patient With Severe Congenital Neutropenia [J].