Cohort definitions
| Probands and relatives | The proband was defined as the first family member to be referred. Other family members meeting the ALPS-FAS criteria (Table 1) were defined as affected relatives. |
| Patients and follow up | We included 78 probands and their affected relatives totaling 150 patients. All except 7 affected relatives were evaluated at the NIH Clinical Center and all of them were followed for ≥2 years. |
| HMPRs | All 63 HMPRs belonging to the 78 families included in this report were evaluated at the NIH Clinical Center. HMPRs did not fulfill the criteria for ALPS-FAS. None had a history or physical findings suggestive of lymphadenopathy, splenomegaly, and autoimmune cytopenias. |
| Probands and relatives | The proband was defined as the first family member to be referred. Other family members meeting the ALPS-FAS criteria (Table 1) were defined as affected relatives. |
| Patients and follow up | We included 78 probands and their affected relatives totaling 150 patients. All except 7 affected relatives were evaluated at the NIH Clinical Center and all of them were followed for ≥2 years. |
| HMPRs | All 63 HMPRs belonging to the 78 families included in this report were evaluated at the NIH Clinical Center. HMPRs did not fulfill the criteria for ALPS-FAS. None had a history or physical findings suggestive of lymphadenopathy, splenomegaly, and autoimmune cytopenias. |