000 01479 a2200469 4500
005 20250515041034.0
264 0 _c20061024
008 200610s 0 0 eng d
022 _a1592-8721
040 _aNLM
_beng
_cNLM
100 1 _aMancebo, Esther
245 0 0 _aFamilial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
_h[electronic resource]
260 _bHaematologica
_cSep 2006
300 _a1257-60 p.
_bdigital
500 _aPublication Type: Case Reports; Journal Article
650 0 4 _aHomozygote
650 0 4 _aHumans
650 0 4 _aLymphohistiocytosis, Hemophagocytic
_xetiology
650 0 4 _aMale
650 0 4 _aMembrane Glycoproteins
_xgenetics
650 0 4 _aMiddle Aged
650 0 4 _aMutation, Missense
650 0 4 _aPerforin
650 0 4 _aPore Forming Cytotoxic Proteins
650 0 4 _aTuberculosis
_xcomplications
650 0 4 _aTwins, Monozygotic
700 1 _aAllende, Luis M
700 1 _aGuzmán, María
700 1 _aPaz-Artal, Estela
700 1 _aGil, Juana
700 1 _aUrrea-Moreno, Ramón
700 1 _aFernández-Cruz, Eduardo
700 1 _aGayà, Antoni
700 1 _aCalvo, Javier
700 1 _aArbós, Aina
700 1 _aDurán, M Antonia
700 1 _aCanet, Ramón
700 1 _aBalanzat, José
700 1 _aUdina, María A
700 1 _aVercher, F Javier
773 0 _tHaematologica
_gvol. 91
_gno. 9
_gp. 1257-60
999 _c16540401
_d16540401