List of works - Joao B. Oliveira

Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia

scientific article published on 17 August 2010

Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.

scientific article published on 14 March 2013

Autoimmune lymphoproliferative syndrome.

scientific article

Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias

scientific article

Autoimmunity in hyper-IgM syndrome.

scientific article published on 02 February 2008

Cryopyrin associated periodic syndrome with neurological involvement in a 50-year-old patient

scientific article published on 01 March 2014

Disorders of apoptosis: mechanisms for autoimmunity in primary immunodeficiency diseases.

scientific article published on 12 January 2008

Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study

scientific article published on 19 September 2011

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

Evaluation of IL-2-withdrawal-induced apoptosis in human T lymphocytes.

scientific article published in January 2013

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

scientific article (publication date: 15 May 2011)

Functional flow cytometry testing: an emerging approach for the evaluation of genetic disease.

scientific article published on 15 January 2009

How I treat autoimmune lymphoproliferative syndrome

scientific article

ICON: the early diagnosis of congenital immunodeficiencies

scientific article published on 12 March 2014

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

scientific article (publication date: 26 September 2014)

Laboratory evaluation of primary immunodeficiencies

scientific article

Marginal zone B-cell dysfunction in ALPS.

scientific article

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

scientific article published in February 2009

Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders.

scientific article

Monogenic defects in lymphocyte apoptosis.

scientific article

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

scholarly article

Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies

scientific article published on 19 August 2020

Pediatric hereditary autoinflammatory syndromes.

scientific article published on September 2010

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

scientific article

Re: Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy

scientific article published on 24 December 2010

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

scientific article

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

scientific article

TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.

scientific article

The expanding spectrum of the autoimmune lymphoproliferative syndromes

scientific article published on December 2013

Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies.

scientific article published on 11 April 2008

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

scientific article

List of works by Joao B. Oliveira

Anti-cytokine autoantibodies are associated with opportunistic infection in patients with thymic neoplasia

Antibody deficiency associated with an inherited autosomal dominant mutation in TWEAK.

Autoimmune lymphoproliferative syndrome.

Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias

Autoimmunity in hyper-IgM syndrome.

Cryopyrin associated periodic syndrome with neurological involvement in a 50-year-old patient

Disorders of apoptosis: mechanisms for autoimmunity in primary immunodeficiency diseases.

Distribution of biventricular disease in arrhythmogenic cardiomyopathy: an autopsy study

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

Evaluation of IL-2-withdrawal-induced apoptosis in human T lymphocytes.

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

Functional flow cytometry testing: an emerging approach for the evaluation of genetic disease.

How I treat autoimmune lymphoproliferative syndrome

ICON: the early diagnosis of congenital immunodeficiencies

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

Laboratory evaluation of primary immunodeficiencies

Marginal zone B-cell dysfunction in ALPS.

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

Molecular- and flow cytometry-based diagnosis of primary immunodeficiency disorders.

Monogenic defects in lymphocyte apoptosis.

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

Novel mutation in the NRLP3 manifesting as an intermediate phenotype of cryopyrinopathies

Pediatric hereditary autoinflammatory syndromes.

Phenotype-genotype analysis of cryopyrin-associated periodic syndromes (CAPS): description of a rare non-exon 3 and a novel CIAS1 missense mutation.

Re: Inherited cardiomyopathies mimicking arrhythmogenic right ventricular cardiomyopathy

Reversion mutations in patients with leukocyte adhesion deficiency type-1 (LAD-1)

Revised diagnostic criteria and classification for the autoimmune lymphoproliferative syndrome (ALPS): report from the 2009 NIH International Workshop

TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.

The expanding spectrum of the autoimmune lymphoproliferative syndromes

Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies.

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