Autoimmune lymphoproliferative syndrome 1A (ALPS1A) [MIM:601859]: A disorder of apoptosis that manifests in early childhood and results in the accumulation of autoreactive lymphocytes. It is characterized by non-malignant lymphadenopathy with hepatosplenomegaly, and autoimmune hemolytic anemia, thrombocytopenia and neutropenia. {ECO:0000269|PubMed:10090885, ECO:0000269|PubMed:10340403, ECO:0000269|PubMed:10515860, ECO:0000269|PubMed:11418480, ECO:0000269|PubMed:17336828, ECO:0000269|PubMed:20935634, ECO:0000269|PubMed:7540117, ECO:0000269|PubMed:8929361, ECO:0000269|PubMed:9028321, ECO:0000269|PubMed:9028957, ECO:0000269|PubMed:9322534, ECO:0000269|PubMed:9821419, ECO:0000269|PubMed:9927496}. Note=The disease is caused by mutations affecting the gene represented in this entry.
MUTAGEN 250 250 R->E: Strongly decreased interaction with FADD. {ECO:0000269|PubMed:20935634}.; MUTAGEN 261 261 E->K: Loss of interaction with FADD. {ECO:0000269|PubMed:20935634}.; MUTAGEN 283 283 Q->K: Loss of interaction with FADD. {ECO:0000269|PubMed:20935634}.; MUTAGEN 287 287 K->D: Strongly decreased interaction with FADD. {ECO:0000269|PubMed:20935634}.; MUTAGEN 291 291 Y->D: Decreased interaction with FADD. {ECO:0000269|PubMed:19118384}.; MUTAGEN 313 313 I->D: Constitutive activation. Promotes apoptosis, both in the presence and in the absence of stimulation by a ligand. {ECO:0000269|PubMed:19118384}.