List of works - Julie E. Niemela

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

scientific article

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

scientific article published on 22 January 2018

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance

article published in 2011

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

scientific article published on 7 October 2011

Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis

scientific article

CYBB mutation analysis in X-linked chronic granulomatous disease

scientific article

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

scientific article published on 27 March 2015

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay

scientific article published in February 2003

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

scientific article

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

scientific article

Effects of interleukin 2 therapy on lymphocyte magnesium levels

scientific article published in January 2002

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

scientific article (publication date: 15 May 2011)

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

scientific article published on 29 October 2014

Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome

scientific article published on July 2005

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

article by Jordan Orange et al published September 2004 in The Journal of Allergy and Clinical Immunology

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

scientific article

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

scientific article

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

scientific article (publication date: 26 September 2014)

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

scientific article published on 14 September 2012

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

scientific article published on 7 May 2015

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

scientific article published on 21 February 2013

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

scientific article published on 01 June 2019

Magnesium (mg) retention and mood effects after intravenous mg infusion in premenstrual dysphoric disorder

scientific article

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

scientific article published in February 2009

Mutation analysis in primary immunodeficiency diseases: case studies

scientific article

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

scientific article

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

scholarly article

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

scientific article published on 07 January 2014

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

scientific article published on 4 November 2005

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

scientific article

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

scientific article

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

scientific article

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome

scientific article

List of works by Julie E. Niemela

A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal transducing death domain: Molecular mechanisms and clinical penetrance

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance

Autoimmune lymphoproliferative syndrome misdiagnosed as hemophagocytic lymphohistiocytosis

CYBB mutation analysis in X-linked chronic granulomatous disease

Caspase-8 Deficiency Presenting as Late-Onset Multi-Organ Lymphocytic Infiltration with Granulomas in two Adult Siblings

Diagnostic paradigm for evaluation of male patients with chronic granulomatous disease, based on the dihydrorhodamine 123 assay

Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency

Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations

Effects of interleukin 2 therapy on lymphocyte magnesium levels

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome

Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis

Histologic features of sinus histiocytosis with massive lymphadenopathy in patients with autoimmune lymphoproliferative syndrome

Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia

Hypomorphic Rag mutations can cause destructive midline granulomatous disease

IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

In utero and early postnatal presentation of autoimmune lymphoproliferative syndrome in a family with a novel FAS mutation

Late-onset severe chronic active EBV in a patient for five years with mutations in STXBP2 (MUNC18-2) and PRF1 (perforin 1).

Loss-of-function of the protein kinase C δ (PKCδ) causes a B-cell lymphoproliferative syndrome in humans

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

Magnesium (mg) retention and mood effects after intravenous mg infusion in premenstrual dysphoric disorder

Molecular characterization of patients with X-linked Hyper-IgM syndrome: description of two novel CD40L mutations.

Mutation analysis in primary immunodeficiency diseases: case studies

Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility.

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Single nucleotide polymorphisms in the apoptosis receptor gene TNFRSF6.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

Somatic KRAS mutations associated with a human nonmalignant syndrome of autoimmunity and abnormal leukocyte homeostasis

Targeted NGS: A Cost-Effective Approach to Molecular Diagnosis of PIDs

Using biomarkers to predict the presence of FAS mutations in patients with features of the autoimmune lymphoproliferative syndrome