Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
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Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives. / Sperl, D; Benesch, M; Urban, C; Lackner, H; Sovinz, P; Speicher, M R; Uhrig, S; Schwarzbraun, T; Schwinger, W; Zur Stadt, Udo; Beutel, Karin; Janka-Schaub, Gritta; Scarpatetti, M; Seidel, M G.
in: KLIN PADIATR, Jahrgang 224, Nr. 6, 6, 2012, S. 386-389.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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TY - JOUR
T1 - Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.
AU - Sperl, D
AU - Benesch, M
AU - Urban, C
AU - Lackner, H
AU - Sovinz, P
AU - Speicher, M R
AU - Uhrig, S
AU - Schwarzbraun, T
AU - Schwinger, W
AU - Zur Stadt, Udo
AU - Beutel, Karin
AU - Janka-Schaub, Gritta
AU - Scarpatetti, M
AU - Seidel, M G
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Humans
KW - Male
KW - Adolescent
KW - Young Adult
KW - Child, Preschool
KW - Infant
KW - Fatal Outcome
KW - DNA Mutational Analysis
KW - Pedigree
KW - Mutation, Missense
KW - Genetic Testing
KW - Heterozygote Detection
KW - Agammaglobulinemia/diagnosis/genetics
KW - Epstein-Barr Virus Infections/diagnosis/genetics
KW - Exons/genetics
KW - Genetic Diseases, X-Linked/diagnosis/genetics
KW - Hodgkin Disease/diagnosis/genetics
KW - Infectious Mononucleosis/diagnosis/genetics
KW - Intellectual Disability/diagnosis/genetics
KW - Intracellular Signaling Peptides and Proteins/genetics
KW - Lymphohistiocytosis, Hemophagocytic/diagnosis/genetics/mortality
KW - Lymphoproliferative Disorders/diagnosis/genetics/mortality
KW - Meningoencephalitis/complications/diagnosis/genetics
KW - Humans
KW - Male
KW - Adolescent
KW - Young Adult
KW - Child, Preschool
KW - Infant
KW - Fatal Outcome
KW - DNA Mutational Analysis
KW - Pedigree
KW - Mutation, Missense
KW - Genetic Testing
KW - Heterozygote Detection
KW - Agammaglobulinemia/diagnosis/genetics
KW - Epstein-Barr Virus Infections/diagnosis/genetics
KW - Exons/genetics
KW - Genetic Diseases, X-Linked/diagnosis/genetics
KW - Hodgkin Disease/diagnosis/genetics
KW - Infectious Mononucleosis/diagnosis/genetics
KW - Intellectual Disability/diagnosis/genetics
KW - Intracellular Signaling Peptides and Proteins/genetics
KW - Lymphohistiocytosis, Hemophagocytic/diagnosis/genetics/mortality
KW - Lymphoproliferative Disorders/diagnosis/genetics/mortality
KW - Meningoencephalitis/complications/diagnosis/genetics
M3 - SCORING: Journal article
VL - 224
SP - 386
EP - 389
JO - KLIN PADIATR
JF - KLIN PADIATR
SN - 0300-8630
IS - 6
M1 - 6
ER -