First report of an SH2D1A mutation associated with X-linked lymphoproliferative disease in Turkey

encephalopathy or bone marrow failure with fatal hemorrhages in various organs [5].The only curative treatment of XLP is hematopoietic stem cell transplantation [6].In our case, the HLH-2004 protocol, initiated on the 6 th hospitalization day, did not prevent the deterioration of the patient's clinical status.Rituximab therapy has been reported to successfully induce remission in some cases of XLP [7,8].Unfortunately, our patient was lost before we could start rituximab therapy.Establishment of the genetic diagnosis in male children suspected to have XLP will enable valuable genetic counseling.