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Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndromeFAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndromeImmune dysregulation in human subjects with heterozygous germline mutations in CTLA4Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutationsAutoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosisMutation analysis in primary immunodeficiency diseases: case studies.Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.Hypomorphic Rag mutations can cause destructive midline granulomatous disease.Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasisMutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency.Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiencyTargeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs.IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.Magnesium (mg) retention and mood effects after intravenous mg infusion in premenstrual dysphoric disorderCaspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult SiblingsNRAS mutation causes a human autoimmune lymphoproliferative syndrome.Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis.Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humansIn utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutationNatural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutationsHistologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome.Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.Effects of interleukin 2 therapy on lymphocyte magnesium levels.CYBB mutation analysis in X-linked chronic granulomatous disease.Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay.Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasiaAutoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetranceLymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance
P50
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P50
description
hulumtuese
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researcher
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wetenschapper
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հետազոտող
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name
Julie E Niemela
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Julie E Niemela
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Julie E. Niemela
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Julie E. Niemela
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type
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Julie E Niemela
@nl
Julie E Niemela
@sl
Julie E. Niemela
@en
Julie E. Niemela
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Julie E Niemela
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Julie E Niemela
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Julie E. Niemela
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Julie E. Niemela
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7006539187
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0000-0003-4197-3792