ABSTRACT
HLA-A*01:302 was likely generated by intralocus conversion between an A*01:01:01 allele and an A*29 allele.
Subject(s)
HLA-A Antigens , Alleles , Base Sequence , HLA-A Antigens/genetics , Humans , SpainABSTRACT
Hemophagocytic lymphohistiocytosis is characterized by uncontrolled activation of the immune system that leads to systemic hyperinflammation. Lymphoproliferative syndrome linked to the X chromosome is a hereditary immunodeficiency characterized by an inability to mount an adequate immune response to an Epstein-Barr virus infection. Hemophagocytic lymphohistiocytosis is one of the main clinical features of X-linked lymphoproliferative syndrome. We report the case of a patient who presented with primary hemophagocytic lymphohistiocytosis associated with Epstein-Barr virus infection without a familial history of immunodeficiency. A mutation in the SH2D1A gene was identified, which confirmed the diagnosis of type 1 X-linked lymphoproliferative syndrome.
