Аннотация:In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutationAutoimmune lymphoproliferative syndrome (ALPS; MIM 601859) is a congenital disease of defective T-cell apoptosis and autoimmunity, most often caused by mutations in the FAS gene.2][3] Onset is typically early in life with a median age of 11.5 months. 4We report a family with a novel FAS mutation, in which the proband presented with onset of ALPS at three weeks of age and her brother in utero at 36 weeks gestation.To our knowledge, these are among the earliest documented presentations of ALPS.Based on these cases, we now recommend obstetricians to assess fetal spleen size by third trimester ultrasound in mothers with ALPS or a family history of ALPS, in addition to monitoring both mother and child for autoimmune hemolytic anemia and thrombocytopenia.The proband, (NIH ALPS Family n. 323.1) was born at 41 weeks gestation.She presented at three weeks of age with pallor, vomiting, lethargy, jaundice, splenomegaly and lymphadenopathy.Prior to diagnosis, she developed worsening lymphadenopathy and massive splenomegaly.Lymph node biopsy showed few germinal centers and expansion of the paracortical zone with mature T cells admixed with plasma cells and immunoblastic cells.Flow cytometry of peripheral blood showed 24% CD3 + T cells
