A novel DOCK2 variant in siblings with severe combined immunodeficiency

Scand J Immunol. 2023 Mar;97(3):e13243. doi: 10.1111/sji.13243. Epub 2023 Jan 12.

Authors

Maria Anna Bruusgaard-Mouritsen¹, Tania Masmas², Line Borgwardt³, Lusine Nazaryan-Petersen³, Carsten Heilmann², Hans O Madsen¹, Hanne Vibeke Marquart¹

Affiliations

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.

PMID: 36541113
DOI: 10.1111/sji.13243

No abstract available

Publication types

Letter

MeSH terms

B-Lymphocytes
GTPase-Activating Proteins
Guanine Nucleotide Exchange Factors
Humans
Severe Combined Immunodeficiency*
Siblings

Substances

Guanine Nucleotide Exchange Factors
DOCK2 protein, human
GTPase-Activating Proteins

Associated data

RefSeq/NM_004946.3