List of works - Myriam Ricarda Lorenz

A novel thymoma-associated immunodeficiency with increased naive T cells and reduced CD247 expression

scientific article published on 2 March 2015

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

scientific article published on 3 June 2014

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

scientific article published on 26 April 2016

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

scientific article

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels

scientific article published on 13 April 2018

Carboxylated superparamagnetic iron oxide particles label cells intracellularly without transfection agents

Cellular uptake behavior of unfunctionalized and functionalized PBCA particles prepared in a miniemulsion

scientific article

Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation

scientific article

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

scientific article published on 23 November 2019

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

scientific article published on 23 February 2016

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

scientific article

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

scientific article published on 27 October 2016

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

scientific article published in October 2015

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

scientific article published on 17 June 2017

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

scientific article

Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase-No detection by newborn screening for primary immunodeficiencies

scientific article published on 30 October 2019

Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development

scientific article published on 22 August 2020

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

scientific article

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

scientific article published on 28 August 2014

Preparation of Fluorescent Carboxyl and Amino Functionalized Polystyrene Particles by Miniemulsion Polymerization as Markers for Cells

Septic arthritis or juvenile idiopathic arthritis--the case of a 2 year old boy.

scientific article published on 24 April 2015

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

scientific article published on 12 July 2013

Synthesis and biomedical applications of functionalized fluorescent and magnetic dual reporter nanoparticles as obtained in the miniemulsion process

Synthesis of fluorescent polyisoprene nanoparticles and their uptake into various cells

scientific article published in August 2008

T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency

scientific article published on 21 January 2020

TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

scientific article published on 14 April 2020

Uptake of functionalized, fluorescent-labeled polymeric particles in different cell lines and stem cells

scientific article published on 23 January 2006

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.

scientific article

List of works by Myriam Ricarda Lorenz

A novel thymoma-associated immunodeficiency with increased naive T cells and reduced CD247 expression

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency

Activated PI3Kδ syndrome type 2: Two patients, a novel mutation, and review of the literature

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

CD59 deficiency presenting as polyneuropathy and Moyamoya syndrome with endothelial abnormalities of small brain vessels

Carboxylated superparamagnetic iron oxide particles label cells intracellularly without transfection agents

Cellular uptake behavior of unfunctionalized and functionalized PBCA particles prepared in a miniemulsion

Clinical heterogeneity of immunodysregulation, polyendocrinopathy, enteropathy, X-linked: pulmonary involvement as a non-classical disease manifestation

Distinct molecular response patterns of activating STAT3 mutations associate with penetrance of lymphoproliferation and autoimmunity

Disturbed B-lymphocyte selection in autoimmune lymphoproliferative syndrome

Disturbed B-lymphocytes selection in autoimmune lymphoproliferative syndrome

Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome

Gray platelet syndrome can mimic autoimmune lymphoproliferative syndrome

Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation

Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.

Impaired polysaccharide responsiveness without agammaglobulinaemia in three patients with hypomorphic mutations in Bruton Tyrosine Kinase-No detection by newborn screening for primary immunodeficiencies

Long-term robustness of a T-cell system emerging from somatic rescue of a genetic block in T-cell development

Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Patients with T+/lowNK+IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency

Preparation of Fluorescent Carboxyl and Amino Functionalized Polystyrene Particles by Miniemulsion Polymerization as Markers for Cells

Septic arthritis or juvenile idiopathic arthritis--the case of a 2 year old boy.

Sequential decisions on FAS sequencing guided by biomarkers in patients with lymphoproliferation and autoimmune cytopenia

Synthesis and biomedical applications of functionalized fluorescent and magnetic dual reporter nanoparticles as obtained in the miniemulsion process

Synthesis of fluorescent polyisoprene nanoparticles and their uptake into various cells

T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency

TIM-3 deficiency presenting with two clonally unrelated episodes of mesenteric and subcutaneous panniculitis-like T-cell lymphoma and hemophagocytic lymphohistiocytosis

Uptake of functionalized, fluorescent-labeled polymeric particles in different cell lines and stem cells

XLF deficiency results in reduced N-nucleotide addition during V(D)J recombination.