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Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

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Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation. / Vieth, S; Ammann, S; Schwarz, K; Härtel, C; Schultz, C; Lehmberg, K; Lauten, M.

in: KLIN PADIATR, Jahrgang 225, Nr. 6, 01.11.2013, S. 343-6.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Vieth, S, Ammann, S, Schwarz, K, Härtel, C, Schultz, C, Lehmberg, K & Lauten, M 2013, 'Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation', KLIN PADIATR, Jg. 225, Nr. 6, S. 343-6. https://doi.org/10.1055/s-0033-1355393

APA

Vieth, S., Ammann, S., Schwarz, K., Härtel, C., Schultz, C., Lehmberg, K., & Lauten, M. (2013). Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation. KLIN PADIATR, 225(6), 343-6. https://doi.org/10.1055/s-0033-1355393

Vancouver

Vieth S, Ammann S, Schwarz K, Härtel C, Schultz C, Lehmberg K et al. Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation. KLIN PADIATR. 2013 Nov 1;225(6):343-6. https://doi.org/10.1055/s-0033-1355393

Bibtex

@article{cafef195db584425bca13813372b0518,
title = "Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation",
abstract = "X-linked lymphoproliferative syndromes (XLP) are rare primary immunodeficiencies. Mutations within the XIAP/BIRC4 gene characterize XLP type 2 and cause XIAP deficiency. We present the case of a 5-year-old boy with a novel mutation of the XIAP/BIRC4 gene and describe the immunological phenotype for the first time. We characterized the distinct immunological phenotype and evaluated the family history accordingly.",
author = "S Vieth and S Ammann and K Schwarz and C H{\"a}rtel and C Schultz and K Lehmberg and M Lauten",
note = "{\textcopyright} Georg Thieme Verlag KG Stuttgart · New York.",
year = "2013",
month = nov,
day = "1",
doi = "10.1055/s-0033-1355393",
language = "English",
volume = "225",
pages = "343--6",
journal = "KLIN PADIATR",
issn = "0300-8630",
publisher = "Georg Thieme Verlag KG",
number = "6",

}

RIS

TY - JOUR

T1 - Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation

AU - Vieth, S

AU - Ammann, S

AU - Schwarz, K

AU - Härtel, C

AU - Schultz, C

AU - Lehmberg, K

AU - Lauten, M

N1 - © Georg Thieme Verlag KG Stuttgart · New York.

PY - 2013/11/1

Y1 - 2013/11/1

N2 - X-linked lymphoproliferative syndromes (XLP) are rare primary immunodeficiencies. Mutations within the XIAP/BIRC4 gene characterize XLP type 2 and cause XIAP deficiency. We present the case of a 5-year-old boy with a novel mutation of the XIAP/BIRC4 gene and describe the immunological phenotype for the first time. We characterized the distinct immunological phenotype and evaluated the family history accordingly.

AB - X-linked lymphoproliferative syndromes (XLP) are rare primary immunodeficiencies. Mutations within the XIAP/BIRC4 gene characterize XLP type 2 and cause XIAP deficiency. We present the case of a 5-year-old boy with a novel mutation of the XIAP/BIRC4 gene and describe the immunological phenotype for the first time. We characterized the distinct immunological phenotype and evaluated the family history accordingly.

U2 - 10.1055/s-0033-1355393

DO - 10.1055/s-0033-1355393

M3 - SCORING: Journal article

C2 - 24166087

VL - 225

SP - 343

EP - 346

JO - KLIN PADIATR

JF - KLIN PADIATR

SN - 0300-8630

IS - 6

ER -