A novel <i>DOCK2</i> variant in siblings with severe combined immunodeficiency-Reference-Cited by-同舟云学术

A novel DOCK2 variant in siblings with severe combined immunodeficiency

Published:2023-01-12 Issue:3 Volume:97 Page:
ISSN:0300-9475
Container-title:Scandinavian Journal of Immunology
language:en
Short-container-title:Scand J Immunol

Author:

Bruusgaard‐Mouritsen Maria Anna¹^ORCID,Masmas Tania²,Borgwardt Line³,Nazaryan‐Petersen Lusine³,Heilmann Carsten²,Madsen Hans O.¹,Vibeke Marquart Hanne¹

Affiliation:

1. Section for Diagnostic Immunology, Department of Clinical Immunology Copenhagen University Hospital – Rigshospitalet Copenhagen Denmark

2. Department of Paediatrics and Adolescent Medicine, Paediatric Haematopoietic Stem Cell Transplantation and Immunodeficiency Copenhagen University Hospital – Rigshospitalet Copenhagen Denmark

3. Center for Genomic Medicine Copenhagen University Hospital – Rigshospitalet Copenhagen Denmark

Publisher

Wiley

Subject

Immunology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/sji.13243

Reference10 articles.

1. Dock2 in the development of inflammation and cancer

2. Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

3. Hematopoietic stem cell transplantation complicated with ebv associated hemophagocytic lymphohistiocytosis in a patient with dock2 deficiency

4. Implementation of SCID Screening in Denmark

5. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

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