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. 2023 May 31;14:1178582. doi: 10.3389/fimmu.2023.1178582

Table 5.

Incidental genetic findings and treatment of patients with inborn errors of immunity.

Case Gene Accession Nucleotide Amino acid Zygosity (VAF) ACMG classification Novel variants? Disease (MIM#) Inheritance Treatment
Incidental 1 KRAS NM_004985.3 c.37G>T p.Gly13Cys Somatic (19.6%) Likely pathogenic Known RAS-associated autoimmune leukoproliferative disorder (614470) AD Sirolimus
Rituximab
Incidental 2 ISG15 NM_005101.3 c.379G>T p.Glu127Ter Homo Likely pathogenic Known Immunodeficiency 38 (616126) AR Conservative care

VAF, variant allele frequency; AD, autosomal dominant; AR, autosomal recessive; HSCT, hematopoietic stem cell transplantation.