Whole Exome Sequencing Reveals Pathogenic Variants in ADA2 and FAS Causing DADA2 and ALPS.

Our patients' phenotypes are a mix of features found in both DADA2 and ALPS. It has been reported that patients with pathogenic variants in I FAS i will have 100% cellular and laboratory penetrance; however, only 25-45% of patients will express a clinical phenotype highlighting the variable expressivity seen in ALPS [[2]]. 1Hematologic, immunologic, and genetic findings in patients with variants in ADA2 and FAS causing DADA2 and ALPS. [Extracted from the article]