Autoimmune Lymphoproliferative Syndrome in Children with Nonmalignant Organomegaly, Chronic Immune Cytopenia and Newly Diagnosed Lymphoma.

This study investigated the frequency and predictive factors for ALPS in children with lymphoma, chronic immune cytopenia, and non-malignant organomegaly. The 34 children with suspected ALPS (n:13, lymphoma; n:12, immune cytopenia; n:9, non-malignant organomegaly) were included. Double-negative T cells (DNTs), lymphocyte apoptosis, and genetic findings were analyzed. Patients were stratified into two groups as proven/probable ALPS and clinically suspected patients according to the ALPS diagnostic criteria. Of 34 patients, 18 (53%) were diagnosed with proven/probable ALPS. One patient had a mutation (c.652-2A>C) in the FAS gene. The remaining 16 (47%) patients were defined as clinically suspected patients. Predictive factors for ALPS were anemia and thrombocytopenia in patients with lymphoma; splenomegaly and lymphadenopathy in patients with immune cytopenia; young age in patients with non-malignant organomegaly. ALPS may not be rare in certain risk groups. Our study indicates that screening for ALPS may be useful in children having lymphoma with cytopenia at diagnosis, in those having non-malignant organomegaly with immune cytopenia, and in those having cITP and AIHA with organomegaly developed during follow-up.