Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

Jochen Rössler; Anselm Enders; Georgia Lahr; Andreas Heitger; Karl Winkler; Hans Fuchs; Matthias Kopp; Charlotte Niemeyer; Stephan Ehl

doi:10.1016/j.jpeds.2005.07.027

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

Jochen Rössler, Anselm Enders, Georgia Lahr, Andreas Heitger, Karl Winkler, Hans Fuchs, Matthias Kopp, Charlotte Niemeyer, Stephan Ehl^*

^*Corresponding author for this work

Clinic of Pediatric and Adolescent Medicine

University of Freiburg

6 Citations (Scopus)

Abstract

In a patient with a somatic mutation in the CD95 gene, the long-term evolution of the clinical phenotype was indistinguishable from that of patients with autoimmune lymphoproliferative syndrome caused by germline CD95 mutations. A new diagnostic algorithm for autoimmune lymphoproliferative syndrome is suggested incorporating studies on sorted TCRα/β+CD3+CD8-CD4- T cells.

Original language	English
Journal	Journal of Pediatrics
Volume	147
Issue number	5
Pages (from-to)	691-694
Number of pages	4
ISSN	0022-3476
DOIs	https://doi.org/10.1016/j.jpeds.2005.07.027
Publication status	Published - 11.2005

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Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

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10.1016/j.jpeds.2005.07.027

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abstract = "In a patient with a somatic mutation in the CD95 gene, the long-term evolution of the clinical phenotype was indistinguishable from that of patients with autoimmune lymphoproliferative syndrome caused by germline CD95 mutations. A new diagnostic algorithm for autoimmune lymphoproliferative syndrome is suggested incorporating studies on sorted TCRα/β+CD3+CD8-CD4- T cells.",

author = "Jochen R{\"o}ssler and Anselm Enders and Georgia Lahr and Andreas Heitger and Karl Winkler and Hans Fuchs and Matthias Kopp and Charlotte Niemeyer and Stephan Ehl",

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AU - Rössler, Jochen

AU - Enders, Anselm

AU - Lahr, Georgia

AU - Heitger, Andreas

AU - Winkler, Karl

AU - Fuchs, Hans

AU - Kopp, Matthias

AU - Niemeyer, Charlotte

AU - Ehl, Stephan

PY - 2005/11

Y1 - 2005/11

N2 - In a patient with a somatic mutation in the CD95 gene, the long-term evolution of the clinical phenotype was indistinguishable from that of patients with autoimmune lymphoproliferative syndrome caused by germline CD95 mutations. A new diagnostic algorithm for autoimmune lymphoproliferative syndrome is suggested incorporating studies on sorted TCRα/β+CD3+CD8-CD4- T cells.

AB - In a patient with a somatic mutation in the CD95 gene, the long-term evolution of the clinical phenotype was indistinguishable from that of patients with autoimmune lymphoproliferative syndrome caused by germline CD95 mutations. A new diagnostic algorithm for autoimmune lymphoproliferative syndrome is suggested incorporating studies on sorted TCRα/β+CD3+CD8-CD4- T cells.

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U2 - 10.1016/j.jpeds.2005.07.027

DO - 10.1016/j.jpeds.2005.07.027

M3 - Journal articles

C2 - 16291365

AN - SCOPUS:27744518886

SN - 0022-3476

VL - 147

SP - 691

EP - 694

JO - Journal of Pediatrics

JF - Journal of Pediatrics

IS - 5

ER -

Identical phenotype in patients with somatic and germline CD95 mutations requires a new diagnostic approach to autoimmune lymphoproliferative syndrome

Abstract

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