Severe congenital neutropenia due to G6PC3 deficiency: Case series of five patients and literature review-Reference-Cited by-同舟云学术

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

Published:2022-01-19 Issue: Volume: Page:
ISSN:0300-9475
Container-title:Scandinavian Journal of Immunology
language:en
Short-container-title:Scand J Immunol

Author:

Velez‐Tirado Natalia¹^ORCID,Yamazaki‐Nakashimada Marco Antonio²,Lopez Valentín Enrique³,Partida‐Gaytan Armando⁴,Scheffler‐Mendoza Selma C.²,Chaia Semerena Genny M.⁵,Alvarez‐Cardona Aristóteles⁶,Suárez Gutiérrez Marcos Alejandro⁶,Medina Torres Edgar Alejandro⁷,Baeza Capetillo Patricia⁸⁹,Hirschmugl Tatjana¹⁰,Garncarz Wojciech¹⁰,Espinosa‐Padilla Sara Elva⁷,Aguirre Hernández Jesús⁹,Klein Christoph¹¹,Boztug Kaan¹⁰¹²¹³¹⁴¹⁵,Lugo Reyes Saul O.⁷^ORCID

Affiliation:

1. Clinical Immunology Clínica del Country Bogotá Colombia

2. Clinical Immunology Service at the National Institute of Pediatrics Mexico City Mexico

3. Allergy Department Hospital del Niño de Toluca Toluca Mexico

4. Fundacion Mexicana Para Niños Con Inmunodeficiencias, AC Mexico City Mexico

5. Hospital Angeles Metropolitano Mexico City Mexico

6. Unidad de investigacion en Inmunologia Clinica y Alergia Aguascalientes Aguascalientes Mexico

7. Immune Deficiencies Lab at the National Institute of Pediatrics Mexico City Mexico

8. Genetics Department Hospital Infantil de Mexico ‘Federico Gómez’ Mexico City Mexico

9. Laboratory of Genomics Genetics and Bioinformatics Hospital Infantil de Mexico ‘Federico Gómez’ Mexico City Mexico

10. CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria

11. Department of Pediatrics Dr. von Hauner Children's Hospital University HospitalLMU Munich Munich Germany

12. Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria

13. St. Anna Children's Cancer Research Institute (CCRI) Vienna Austria

14. Department of Pediatrics and Adolescent Medicine Medical University of Vienna Austria

15. Department of Pediatrics and Adolescent Medicine St. Anna Children's HospitalMedical University of Vienna Vienna Austria

Publisher

Wiley

Subject

Immunology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/sji.13136

Reference25 articles.

1. Kostmann’s disease and HCLS1‐associated protein X‐1 (HAX1);Klein C;J Clin Immunol,2017

2. A novel syndrome with congenital neutropenia caused by mutations in G6PC3;Boztug K;N Engl J Med,2009

3. Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement;Dursun A;Clin Dysmorphol,2009

4. Extended spectrum of human glucose‐6‐phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia;Boztug K;J Pediatr,2012

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