Figure 8.

Flowchart depicting the recommended immunophenotypic analysis used to define the molecular genetic defects of patients with immunodeficiency syndromes with Autoimmunity. In those cases with normal protein by flow cytometry, if there is a strong clinical indication for a specific immune dysregulation disease, it is recommended to perform gene sequencing to exclude missense mutations that do not impair protein expression. It is estimated that mutations in the FAS receptor are the most frequent pathology of ALPS (≅70% of genetically defined ALPS) (177, 178). However, the frequency of other immune dysregulation syndromes remains unknown. Bold and italic texts are disease-specific and non-disease specific flow cytometry tests, respectively.