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. Author manuscript; available in PMC: 2024 Jun 1.
Published in final edited form as: J Allergy Clin Immunol Pract. 2023 Apr 11;11(6):1579–1591. doi: 10.1016/j.jaip.2023.03.049

Figure 10: IFNGR1 expression.

Figure 10:

IFNγR1 expression on the surface of circulating monocytes is evaluated in healthy control as well as 2 IFNGR1 deficient patients. In Case 8, the patient had defective expression due to homozygous defect c.672G>A variant. In contrast, monocytes from Case 9 had excessive expression of IFNγR1 due to the autosomal dominant defect with a pathogenic IFNγR1 variant (c.819_822delTAAT), where the abnormal allele codes for a protein that is expressed but does not combine with its partner protein IFNγR2 and is not recycled properly.