Mancebo, Esther <br/><br/>
Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.  [electronic resource] 

 -  Haematologica  Sep 2006 
 - 1257-60 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1592-8721 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Homozygote<br/>Humans<br/>Lymphohistiocytosis, Hemophagocytic--etiology<br/>Male<br/>Membrane Glycoproteins--genetics<br/>Middle Aged<br/>Mutation, Missense<br/>Perforin<br/>Pore Forming Cytotoxic Proteins<br/>Tuberculosis--complications<br/>Twins, Monozygotic