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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, Vol. 224, No. 6, 6, 2012, p. 386-389.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Sperl, D, Benesch, M, Urban, C, Lackner, H, Sovinz, P, Speicher, MR, Uhrig, S, Schwarzbraun, T, Schwinger, W, Zur Stadt, U, Beutel, K, Janka-Schaub, G, Scarpatetti, M & Seidel, MG 2012, 'Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.', KLIN PADIATR, vol. 224, no. 6, 6, pp. 386-389. <http://www.ncbi.nlm.nih.gov/pubmed/23143765?dopt=Citation>

APA

Sperl, D., Benesch, M., Urban, C., Lackner, H., Sovinz, P., Speicher, M. R., Uhrig, S., Schwarzbraun, T., Schwinger, W., Zur Stadt, U., Beutel, K., Janka-Schaub, G., Scarpatetti, M., & Seidel, M. G. (2012). Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives. KLIN PADIATR, 224(6), 386-389. [6]. http://www.ncbi.nlm.nih.gov/pubmed/23143765?dopt=Citation

Vancouver

Sperl D, Benesch M, Urban C, Lackner H, Sovinz P, Speicher MR et al. Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives. KLIN PADIATR. 2012;224(6):386-389. 6.

Bibtex

@article{5fea8e1859d749368b036fc46c69a3e5,
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.",
keywords = "Humans, Male, Adolescent, Young Adult, Child, Preschool, Infant, Fatal Outcome, DNA Mutational Analysis, Pedigree, Mutation, Missense, Genetic Testing, Heterozygote Detection, Agammaglobulinemia/diagnosis/genetics, Epstein-Barr Virus Infections/diagnosis/genetics, Exons/genetics, Genetic Diseases, X-Linked/diagnosis/genetics, Hodgkin Disease/diagnosis/genetics, Infectious Mononucleosis/diagnosis/*genetics, Intellectual Disability/diagnosis/genetics, Intracellular Signaling Peptides and Proteins/*genetics, Lymphohistiocytosis, Hemophagocytic/diagnosis/*genetics/mortality, Lymphoproliferative Disorders/diagnosis/*genetics/mortality, Meningoencephalitis/complications/diagnosis/genetics, Humans, Male, Adolescent, Young Adult, Child, Preschool, Infant, Fatal Outcome, DNA Mutational Analysis, Pedigree, Mutation, Missense, Genetic Testing, Heterozygote Detection, Agammaglobulinemia/diagnosis/genetics, Epstein-Barr Virus Infections/diagnosis/genetics, Exons/genetics, Genetic Diseases, X-Linked/diagnosis/genetics, Hodgkin Disease/diagnosis/genetics, Infectious Mononucleosis/diagnosis/*genetics, Intellectual Disability/diagnosis/genetics, Intracellular Signaling Peptides and Proteins/*genetics, Lymphohistiocytosis, Hemophagocytic/diagnosis/*genetics/mortality, Lymphoproliferative Disorders/diagnosis/*genetics/mortality, Meningoencephalitis/complications/diagnosis/genetics",
author = "D Sperl and M Benesch and C Urban and H Lackner and P Sovinz and Speicher, {M R} and S Uhrig and T Schwarzbraun and W Schwinger and {Zur Stadt}, Udo and Karin Beutel and Gritta Janka-Schaub and M Scarpatetti and Seidel, {M G}",
year = "2012",
language = "English",
volume = "224",
pages = "386--389",
journal = "KLIN PADIATR",
issn = "0300-8630",
publisher = "Georg Thieme Verlag KG",
number = "6",

}

RIS

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 -