Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection

Haematologica

Volumn 91, Issue 9, 2006, Pages 1257-1260

  Mancebo, Esther ^a   Allende, Luis M ^a   Guzmán, María ^a   Paz Artal, Estela ^a   Gil, Juana ^b   Urrea Moreno, Ramón ^b   Fernández Cruz, Eduardo ^b   Gayà, Antoni ^c   Calvo, Javier ^c   Arbós, Aina ^c   Durán, M Antonia ^d   Canet, Ramón ^e   Balanzat, José ^e   Udina, María A ^e   Vercher, F Javier ^e  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

^c Laboratory of Molecular Biology   (Spain)

^d HOSPITAL UNIVERSITARIO SON ESPASES   (Spain)

^e HOSPITAL CAN MISSES   (Spain)

Author keywords

A91V mutation; Familial hemophagocytic lymphohistiocytosis; Perforin; Tuberculosis

Indexed keywords

IMIPENEM; PERFORIN;

A91V GENE; ADULT; ANAMNESIS; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; FLOW CYTOMETRY; GENE; GENE MUTATION; GENETIC SUSCEPTIBILITY; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HOSPITAL ADMISSION; HUMAN; HUMAN TISSUE; IMMUNOPHENOTYPING; LABORATORY TEST; LYMPHOCYTOTOXICITY; MALE; MONOZYGOTIC TWINS; PHYSICAL EXAMINATION; SPAIN; STAINING; SYMPTOMATOLOGY; TUBERCULOSIS;

HOMOZYGOTE; HUMANS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE GLYCOPROTEINS; MIDDLE AGED; MUTATION, MISSENSE; PORE FORMING CYTOTOXIC PROTEINS; TUBERCULOSIS; TWINS, MONOZYGOTIC;

EID: 33748796888     PISSN: 03906078     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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