کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6087397 1207360 2015 9 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation
موضوعات مرتبط
علوم زیستی و بیوفناوری ایمنی شناسی و میکروب شناسی ایمونولوژی
پیش نمایش صفحه اول مقاله
Autoimmune lymphoproliferative syndrome-like disease in patients with LRBA mutation
چکیده انگلیسی


- ALPS like phenotype extends the phenotypic spectrum of LRBA deficiency.
- Potential role of LRBA in the extrinsic apoptosis pathway
- Need for genetic diagnosis in ALPS like disorders.

Mutations in LPS-responsive and beige-like anchor (LRBA) gene were recently described in patients with combined immunodeficiency, enteropathy and autoimmune cytopenia. Here, we extend the clinical and immunological phenotypic spectrum of LRBA associated disorders by reporting on three patients from two unrelated families who presented with splenomegaly and lymphadenopathy, cytopenia, elevated double negative T cells and raised serum Fas ligand levels resembling autoimmune lymphoproliferative syndrome (ALPS) and one asymptomatic patient. Homozygous loss of function mutations in LRBA were identified by whole exome analysis. Similar to ALPS patients, Fas mediated apoptosis was impaired in LRBA deficient patients, while apoptosis in response to stimuli of the intrinsic mitochondria mediated apoptotic pathway was even enhanced. This manuscript illustrates the phenotypic overlap of other primary immunodeficiencies with ALPS-like disorders and strongly underlines the necessity of genetic diagnosis in order to provide early correct diagnosis and subsequent care.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Immunology - Volume 159, Issue 1, July 2015, Pages 84-92
نویسندگان
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