Figure 5.

Phenotypic Associations

Differences in (A) presence of ≥1 congenital abnormality, (B) heart malformations, (C) treatment requirements, and (D) eADA levels were observed between different RP genes. Differences remained significant after removing missense mutations. A Fisher’s exact test was used to test the hypothesis that there were differences in proportion of the outcome between RP genes. (D) The association between RP gene and treatment requirements appeared to primarily be due to differences in remission, and this association was no longer significant after removing individuals who went into remission.