Table 2.
Family members evaluated based on ALPS Criteria.
| Subject | ||||||
|---|---|---|---|---|---|---|
| ALPS Criteria | V-1 | V-2 | V-3 | V-4 | IV-1 | IV-2 |
| Required: | ||||||
| TCR αβDNTcs >2% or >68 cells/μL | Present | Present | Present | Absent | N/A | N/A |
| Clinical: LAD and/or Organomegaly | Present | Present | Absent | Absent | Present | Present |
| Primary accessory: | ||||||
| Genetic sequencing | HMM | HMM | Declined Testing | Declined Testing | HMM | HMM |
| FAS c.758 G>T (p. Gly253 Val) | FAS c. 758 G>T (p. Gly253 Val) | N/A | N/A | FAS c. 758 G>T (p. Gly253 Val) | FAS c. 758 G>T (p. Gly253 Val) | |
| Apoptosis assay (normal 68-93%) | 38% | N/A | N/A | N/A | 41% | N/A |
| Secondary accessory: | ||||||
| IL-18 (normal <540 pg/mL) | 1513 | 958 | 714 | 260 | N/A | N/A |
| IL-10 (normal <2 pg/mL) | 300 | 186 | 40.5 | <1.6 | N/A | N/A |
| sFAS-L (normal 69-492 pg/mL) | 5952 | 4825 | 1601 | 169 | N/A | N/A |
| Vitamin B12 (normal 200-1100 ng/mL) | >2000 | >2000 | 1892 | 675 | N/A | N/A |
| Clinical manifestations | AIHA | ITP | Absent | Absent | History of anemia | History of Anemia |
| Family history | LP, AI | LP, AI | LP, AI | LP,AI | LP, AI | LP, AI |
AI, autoimmunity; AIHA, autoimmune hemolytic anemia; DNTCs, double negative T cells; HMM, heterozygous missense mutation; IL, interleukin; ITP, immune thrombocytopenia; LAD, lymphadenopathy; LP, lymphoproliferation; N/A, not applicable; sFAS-L, soluble FAS ligand.