Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives

D Sperl; M Benesch; C Urban; H Lackner; P Sovinz; M R Speicher; S Uhrig; T Schwarzbraun; W Schwinger; U zur Stadt; K Beutel; G Janka; M Scarpatetti; M G Seidel

doi:10.1055/s-0032-1323836

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives

Klin Padiatr. 2012 Oct;224(6):386-9. doi: 10.1055/s-0032-1323836. Epub 2012 Nov 9.

Authors

D Sperl¹, M Benesch, C Urban, H Lackner, P Sovinz, M R Speicher, S Uhrig, T Schwarzbraun, W Schwinger, U zur Stadt, K Beutel, G Janka, M Scarpatetti, M G Seidel

Affiliation

¹ Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria. daniela.sperl@medunigraz.at

PMID: 23143765
DOI: 10.1055/s-0032-1323836

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.

Publication types

Case Reports

MeSH terms

Adolescent
Agammaglobulinemia / diagnosis
Agammaglobulinemia / genetics
Child, Preschool
DNA Mutational Analysis
Epstein-Barr Virus Infections / diagnosis
Epstein-Barr Virus Infections / genetics
Exons / genetics
Fatal Outcome
Genetic Carrier Screening
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / genetics
Genetic Testing
Hodgkin Disease / diagnosis
Hodgkin Disease / genetics
Humans
Infant
Infectious Mononucleosis / diagnosis
Infectious Mononucleosis / genetics*
Intellectual Disability / diagnosis
Intellectual Disability / genetics
Intracellular Signaling Peptides and Proteins / genetics*
Lymphohistiocytosis, Hemophagocytic / diagnosis
Lymphohistiocytosis, Hemophagocytic / genetics*
Lymphohistiocytosis, Hemophagocytic / mortality
Lymphoproliferative Disorders / diagnosis
Lymphoproliferative Disorders / genetics*
Lymphoproliferative Disorders / mortality
Male
Meningoencephalitis / complications
Meningoencephalitis / diagnosis
Meningoencephalitis / genetics
Mutation, Missense
Pedigree
Signaling Lymphocytic Activation Molecule Associated Protein
Young Adult

Substances

Intracellular Signaling Peptides and Proteins
SH2D1A protein, human
Signaling Lymphocytic Activation Molecule Associated Protein

Supplementary concepts

Bruton type agammaglobulinemia