CareLit · DOI-Nachweis · Klinische Pädiatrie
Missense mutation in the inducible T-cell kinase (ITK) leading to immunodeficiency and fatal immune dysregulation after EBV infection
DOI 10.1055/s-0029-1222690
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Nachweis in CareLit
Autor:innenT Telieps, K Huck, O Feyen, T Niehues, F Rüschendorf, N Hübner, HJ Laws, S Knapp, HH Wacker, A Meindl, H Jumaa, A Borkhardt
ZeitschriftKlinische Pädiatrie
Ausgabe05/2009
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Background: In boys fatal immunodeficiencies linked to mutations in SAP or XIAP are known. Here we describe a novel primary immunodeficiency in girls caused by a homozygous mutation in ITK. Patients/Methods: MNCs/T-cells from 2 sisters of healthy consanguineous parents with severe immunodeficiency and therapy resistant EBV-positive B-cell proliferation after EBV infection. Additionally 293T cells transfected with mu…
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Zitierempfehlung
T Telieps, K Huck, O Feyen, T Niehues, F Rüschendorf, N Hübner, HJ Laws, S Knapp, HH Wacker, A Meindl, H Jumaa, A Borkhardt (2009) Missense mutation in the inducible T-cell kinase (ITK) leading to immunodeficiency and fatal immune dysregulation after EBV infection. Klinische Pädiatrie (05). https://doi.org/10.1055/s-0029-1222690
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