title: Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
abstract: Two related boys who died from fulminant infectious mononucleosis were diagnosed with X-linked lymphoproliferative disease type 1 (XLP-1). Family screening (n=17) identified 6 female mutation carriers and 2 more XLP-1 patients in whom, despite recurrent infections, agammaglobulinemia, and Hodgkin's Disease, the genetic basis had been unknown; demonstrating that awareness and early genetic testing are crucial to reveal underlying primary immunodeficiencies and improve outcome. Furthermore, XLP should be included routinely in the differential diagnosis of severe hypogammaglobulinemia and/or lymphoma in males.
authors.affiliation: Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria. daniela.sperl@medunigraz.at
authors.forename: D
authors.initials: D
authors.lastname: Sperl
authors.forename: M
authors.initials: M
authors.lastname: Benesch
authors.forename: C
authors.initials: C
authors.lastname: Urban
authors.forename: H
authors.initials: H
authors.lastname: Lackner
authors.forename: P
authors.initials: P
authors.lastname: Sovinz
authors.forename: M R
authors.initials: MR
authors.lastname: Speicher
authors.forename: S
authors.initials: S
authors.lastname: Uhrig
authors.forename: T
authors.initials: T
authors.lastname: Schwarzbraun
authors.forename: W
authors.initials: W
authors.lastname: Schwinger
authors.forename: U
authors.initials: U
authors.lastname: zur Stadt
authors.forename: K
authors.initials: K
authors.lastname: Beutel
authors.forename: G
authors.initials: G
authors.lastname: Janka
authors.forename: M
authors.initials: M
authors.lastname: Scarpatetti
authors.forename: M G
authors.initials: MG
authors.lastname: Seidel
mesh_terms: D000293:Adolescent; D000361:Agammaglobulinemia / Q000175:diagnosis / Q000235:genetics; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D020031:Epstein-Barr Virus Infections / Q000175:diagnosis / Q000235:genetics; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D006580:Genetic Carrier Screening; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis / Q000235:genetics; D005820:Genetic Testing; D006689:Hodgkin Disease / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D007223:Infant; D007244:Infectious Mononucleosis / Q000175:diagnosis / Q000235:genetics*; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D008232:Lymphoproliferative Disorders / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D008297:Male; D008590:Meningoencephalitis / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D020125:Mutation, Missense; D010375:Pedigree; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D055815:Young Adult
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein