A Novel Combination of Compound Heterozygous Variants in IFNGR1 Causing Complete IFNGR1 Deficiency

J Clin Immunol. 2024 Apr 27;44(5):111. doi: 10.1007/s10875-024-01716-7.

Authors

Brenna Labere^{1

2}, Elizabeth Christian¹, Malika Kapadia^{1

3}, Susan Prockop^{1

3}, Douglas R McDonald¹, Alicia M Johnston⁴

Affiliations

¹ Boston Children's Hospital, Boston, MA, USA.
² Phoenix Children's Hospital, Phoenix, AZ, USA.
³ Dana Farber Cancer Institute, Boston, MA, USA.
⁴ Boston Children's Hospital, Boston, MA, USA. alicia.johnston@childrens.harvard.edu.

PMID: 38676746
DOI: 10.1007/s10875-024-01716-7

No abstract available

Publication types

Letter
Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Female
Heterozygote*
Humans
Interferon gamma Receptor*
Male
Mutation* / genetics
Receptors, Interferon* / deficiency
Receptors, Interferon* / genetics

Substances

Receptors, Interferon
Interferon gamma Receptor