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Klin Padiatr 2012; 224(06): 386-389
DOI: 10.1055/s-0032-1323836
Case Report
© Georg Thieme Verlag KG Stuttgart · New York

Fatal EBV Infection and Variable Clinical Manifestations in an XLP-1 Pedigree – Rapid Diagnosis of Primary Immunodeficiencies may Save Lives

Fatale EBV-Infektionen und andere klinische Manifestationen in einer XLP-1 Familie – Familienanamnese und schnelle Diagnose können Leben retten
D. Sperl
1   Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
,
M. Benesch
1   Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
,
C. Urban
1   Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
,
H. Lackner
1   Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
,
P. Sovinz
1   Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
,
M. R. Speicher
2   Institut für Humangenetik, Medizinische Universität Graz, Graz, Austria
,
S. Uhrig
2   Institut für Humangenetik, Medizinische Universität Graz, Graz, Austria
,
T. Schwarzbraun
2   Institut für Humangenetik, Medizinische Universität Graz, Graz, Austria
,
W. Schwinger
1   Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
,
U. zur Stadt
3   Klinik und Poliklinik für pädiatrische Hämatologie and Onkologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
,
K. Beutel
3   Klinik und Poliklinik für pädiatrische Hämatologie and Onkologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
,
G. Janka
3   Klinik und Poliklinik für pädiatrische Hämatologie and Onkologie, Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany
,
M. Scarpatetti
4   Institut für Pathologie, Medizinische Universität Graz, Graz, Austria
,
M. G Seidel
1   Pädiatrische Hämatologie-Onkologie, Universitätsklinik für Kinder- und Jugendheilkunde, Medizinische Universität Graz, Graz, Austria
› Author Affiliations
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Publication History

Publication Date:
09 November 2012 (online)

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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.

Zusammenfassung

Zwei verwandte Buben verstarben innerhalb von 4 Monaten an fulminant verflaufender infektiöser Mononukleose (FIM). Die genetische Diagnostik ergab eine X-linked lymphoproliferative Erkrankung Typ 1 (XLP-1); im Familienscreening wurden 6 weibliche Mutationsträgerinnen und 2 weitere männliche XLP-1 Patienten mit rezidivierenden Infektionen, Agammaglobulinämie und Hodgkin Lymphom identifiziert. Diese XLP-1 Krankheitsverläufe demonstrieren, dass nicht nur bei FIM an zugrundeliegende Immundefizienzen wie XLP gedacht werden sollte.

Key words

EBV infection - lymphoproliferative disease - primary immunodeficiency - family screening - genetic counselling - hemophagocytic lymphohistiocytosis

Supplementary Material

 

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