Identical twin brothers concordant for Langerhans' cell histiocytosis and discordant for Epstein-Barr virus-associated haemophagocytic syndrome.
We report on identical twin brothers, one of whom presented at 14 months of age with fever and clinical, laboratory and histological evidence of Epstein-Barr virus-associated haemophagocytic syndrome (EBV-AHS) and 4 months later with typical signs and symptoms of Langerhans' cell histiocytosis (LCH). The other twin, without previous symptoms, also displayed at that time LCH associated with signs of recent EBV infection, but without symptoms of haemophagocytic syndrome. No mutation in the SH2D1A gene, as observed in X-linked lymphoproliferative disease, or in the perforin gene as observed in some cases of hereditary haemophagocytic syndrome, was found.


CONCLUSIONS
the occurrence of haemophagocytic syndrome and Langerhans' cell histiocytosis, although genetically based, can be triggered by environmental agents and viruses, in particular Epstein-Barr virus.
Chen
Chun-Jung
CJ
Department of Paediatrics, Tri-Service General Hospital, National Defence Medical Centre, No. 325 Cheng-Kung Road Sec. 2, 114, Neihu, Taipei, Taiwan.
Ho
Tsyr-Yuh
TY
Lu
Jang-Jih
JJ
Sheu
Lai-Fa
LF
Lee
Shih-Yi
SY
Tien
Chiung-Hsi
CH
Cheng
Shin-Nan
SN
D004200:Diseases in Twins / Q000235:genetics / Q000821:virology; D020031:Epstein-Barr Virus Infections / Q000150:complications*; D006646:Histiocytosis, Langerhans-Cell / Q000235:genetics / Q000821:virology; D015616:Histiocytosis, Non-Langerhans-Cell / Q000235:genetics / Q000821:virology; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics; D054353:Perforin; D052899:Pore Forming Cytotoxic Proteins; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D014430:Twins, Monozygotic
D047908:Intracellular Signaling Peptides and Proteins; D008562:Membrane Glycoproteins; D052899:Pore Forming Cytotoxic Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D054353:Perforin