List of works - Raquel Ruiz-García

A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⁺ and natural killer cell cytotoxicity.

scientific article published on 14 March 2014

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

scientific article

Acquired and Innate Immunity Impairment and Severe Disseminated Infection in a Patient With a NF-κB1 Deficiency

article

Autoimmune Septin-5 Disease Presenting as Spinocerebellar Ataxia and Nystagmus

scientific article published in 2021

Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

scientific article published on 17 August 2015

Caveats and Pitfalls of SOX1 Autoantibody Testing With a Commercial Line Blot Assay in Paraneoplastic Neurological Investigations

scientific article published on 12 April 2019

Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.

scientific article published on 3 September 2015

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense Homozygous Mutation

scientific article published on 01 January 2018

Fatal P. jirovecii and Cytomegalovirus Infections in an Infant with Normal Trecs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency.

scientific article

Frequency and relevance of IgM, and IgA antibodies against MOG in MOG-IgG-associated disease

scientific article published on 03 January 2019

Harmful effect of preformed anti-MICA antibodies on renal allograft evolution in early posttransplantation period

scientific article

Isolated IgA anti- β2 glycoprotein I antibodies in patients with clinical criteria for antiphospholipid syndrome

scientific article published on 23 March 2014

Late-onset neuromyelitis optica spectrum disorder: The importance of autoantibody serostatus

scientific article published on 30 August 2019

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

scientific article published on 9 January 2018

Paraneoplastic cerebellar ataxia and antibodies to metabotropic glutamate receptor 2

scientific article published on 11 December 2019

Seizure-related 6 homolog like 2 autoimmunity: Neurologic syndrome and antibody effects

scientific article published on 03 November 2020

Toll-like receptor 3 deficiency in autoimmune encephalitis post-herpes simplex encephalitis

scientific article published on 05 September 2019

List of works by Raquel Ruiz-García

A case of partial dedicator of cytokinesis 8 deficiency with altered effector phenotype and impaired CD8⁺ and natural killer cell cytotoxicity.

Acquired Senescent T-Cell Phenotype Correlates with Clinical Severity in GATA Binding Protein 2-Deficient Patients

Acquired and Innate Immunity Impairment and Severe Disseminated Infection in a Patient With a NF-κB1 Deficiency

Autoimmune Septin-5 Disease Presenting as Spinocerebellar Ataxia and Nystagmus

Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

Caveats and Pitfalls of SOX1 Autoantibody Testing With a Commercial Line Blot Assay in Paraneoplastic Neurological Investigations

Decreased activation-induced cell death by EBV-transformed B-cells from a patient with autoimmune lymphoproliferative syndrome caused by a novel FASLG mutation.

Extreme Phenotypes With Identical Mutations: Two Patients With Same Non-sense Homozygous Mutation

Fatal P. jirovecii and Cytomegalovirus Infections in an Infant with Normal Trecs Count: Pitfalls of Newborn Screening for Severe Combined Immunodeficiency.

Frequency and relevance of IgM, and IgA antibodies against MOG in MOG-IgG-associated disease

Harmful effect of preformed anti-MICA antibodies on renal allograft evolution in early posttransplantation period

Isolated IgA anti- β2 glycoprotein I antibodies in patients with clinical criteria for antiphospholipid syndrome

Late-onset neuromyelitis optica spectrum disorder: The importance of autoantibody serostatus

Mutations in PI3K110δ cause impaired NK cell function partially rescued by rapamycin treatment

Paraneoplastic cerebellar ataxia and antibodies to metabotropic glutamate receptor 2

Seizure-related 6 homolog like 2 autoimmunity: Neurologic syndrome and antibody effects

Toll-like receptor 3 deficiency in autoimmune encephalitis post-herpes simplex encephalitis