A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review-Reference-Cited by-同舟云学术

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

Published:2020-04-12 Issue:6 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

AlKhater Suzan A.¹^ORCID,Deswarte Caroline²³,Casanova Jean‐Laurent²³⁴⁵⁶,Bustamante Jacinta²³⁴⁷

Affiliation:

1. Department of Pediatrics King Fahad Hospital of University, Al-KhobarImam Abdulrahman Bin Faisal UniversityCollege of Medicine Dammam Saudi Arabia

2. Laboratory of Human Genetics of Infectious Diseases Necker Branch INSERM U1163Necker Hospital for Sick Children Paris France

3. Paris University Imagine Institute Paris France

4. St Giles Laboratory of Human Genetics of Infectious Diseases Rockefeller Branch The Rockefeller University New York NY USA

5. Howard Hughes Medical Institute New York NY USA

6. Pediatric Hematology and Immunology Unit Assistance Publique‐Hôpitaux de ParisNecker Hospital for Sick Children Paris France

7. Center for the Study of Primary Immunodeficiencies Necker Hospital for Sick Children AP‐HP Paris France

Funder

St. Giles Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1237

Reference49 articles.

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3. A novel mutation in NCF2 resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease

4. Primary Immunodeficiency Diseases in Saudi Arabia: a Tertiary Care Hospital Experience over a Period of Three Years (2010–2013)

5. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

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