MEDICAL SCIENCES. For the article “Defective CD95/APO-1/Fas signal complex formation in the human autoimmune lymphoproliferative syndrome, type Ia,” by David A. Martin, Lixin Zheng, Richard M. Siegel, Baohua Huang, Galen H. Fisher, Jin Wang, Christine E. Jackson, Jennifer M. Puck, Janet Dale, Stephen E. Straus, Marcus E. Peter, Peter H. Krammer, Stephen Fesik, and Michael J. Lenardo, which appeared in issue 8, April 13, 1999, of Proc. Natl. Acad. Sci. USA (96, 4552–4557), the authors note the following. For patient 31 in Table 1, the nucleotide change incorrectly appeared as “G943C” instead of “G934C,” and the amino acid change appeared as “Arg-234-Pro” instead of “Gly-231-Ala.” The corrected table appears below.
Table 1. Clinical and molecular characteristics of nine ALPS patients with mutations in the CD95 death domain.
| Patient ID no. | Nucleotide change | Amino acid change | CD4-/CD8- αβ T cells, % (<1.0%) | Anti-CD3ε apoptosis,* % (50-70%) | Anti-CD95 apoptosis,* % (70-90%) | NMR structure | Disease manifestations† |
|---|---|---|---|---|---|---|---|
| 3 | A915C | Thr-225-Pro | 15 | 14 | 35 | Disrupted | LY, SM, AIHA, NP |
| 5 | C1011T | Gln-257-STOP | 18 | 33 | 25 | Disrupted | LY, SM, AIHA, ITP, NP |
| 6 | C966A | Ala-241-Asp | 13 | 8 | 21 | Intact | LY, HSM, AIHA |
| 17 | T1123G | Ile-294-Ser | 11 | 9 | 18 | Disrupted | LY, HSM, AIHA, NP |
| 26 | A975T | Asp-244-Val | ND | 16 | 1 | Intact | LY, HSM, AIHA |
| 29 | G943A | Arg-234-Gln | 2.2 | 15 | 18 | Intact | LY, SM, AIHA |
| 30 | ΔT1074 | Leu-278-STOP | 7.4 | ND | 5 | ND | LY, HSM, AIHA, ITP, GN, NP |
| 31 | G934C | Gly-231-Ala | 2.3 | ND | 5 | Disrupted | LY, SM, AIHA |
| 33 | C1020T | Gln-260-STOP | 5.7 | 22 | 17 | Disrupted | LY, SM, AIHA |
Assays performed on PHA-stimulated peripheral blood lymphocytes as described in Materials and Methods. The percent apoptosis induced in T cells from normal subjects under these assay conditions is shown in parentheses. All values reported are the results of the propidium iodide incorporation assay with the exception of the anti-CD95 assay on patient 30, which were done by the DNA content assay as described in ref. 23. ND, not determined
LY, lymphadenopathy; SM, splenomegaly; HSM, hepatosplenomegaly; AIHA, autoimmune hemolytic anemia; ITP, immune thrombocytopenic purpura; GN, glomerulonephritis; and NP, autoimmune neutropenia; direct antiglobulin-note that Coomb's test was positive in all patients