(Q40993323)

25 September 2017

Genomics is rapidly advancing precision medicine for immunological disorders (English)

1 reference

25 September 2017

1 reference

1 reference

Yu Zhang

1

1 reference

25 September 2017

Helen C Su

series ordinal

2

1 reference

25 September 2017

Michael J Lenardo

series ordinal

3

1 reference

25 September 2017

language of work or name

English

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publication date

1 September 2015

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25 September 2017

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25 September 2017

16

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25 September 2017

10

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25 September 2017

1001-1004

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Discovery of single-gene inborn errors of immunity by next generation sequencing

25 September 2017

1 reference

A genomic approach to human autoimmune diseases

21 January 2018

1 reference

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing

21 January 2018

1 reference

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

21 January 2018

1 reference

A rapid ex vivo clinical diagnostic assay for fas receptor-induced T lymphocyte apoptosis

21 January 2018

1 reference

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

21 January 2018

1 reference

Dual proteolytic pathways govern glycolysis and immune competence

21 January 2018

1 reference

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

21 January 2018

1 reference

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

21 January 2018

1 reference

Fas preassociation required for apoptosis signaling and dominant inhibition by pathogenic mutations

21 January 2018

1 reference

Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

21 January 2018

1 reference

Immunology. Autoimmunity by haploinsufficiency

21 January 2018

1 reference

Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4

21 January 2018

1 reference

Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4

21 January 2018

1 reference

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans

21 January 2018

1 reference

The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3

21 January 2018

1 reference

Mg2+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D

21 January 2018

1 reference

Second messenger role for Mg2+ revealed by human T-cell immunodeficiency

21 January 2018

1 reference

Autoimmune lymphoproliferative syndrome with somatic Fas mutations

21 January 2018

1 reference

Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations

21 January 2018

1 reference

Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype

21 January 2018

1 reference

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

21 January 2018

1 reference

Impaired T(H)17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

21 January 2018

1 reference

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

21 January 2018

1 reference

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

21 January 2018

1 reference

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

21 January 2018

1 reference

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

21 January 2018

1 reference

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

21 January 2018

1 reference

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

21 January 2018

1 reference

Hypomorphic homozygous mutations in phosphoglucomutase 3 (PGM3) impair immunity and increase serum IgE levels

21 January 2018

1 reference

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

21 January 2018

1 reference

Clan genomics and the complex architecture of human disease

21 January 2018

1 reference

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease

21 January 2018

1 reference

NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

21 January 2018

1 reference

Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

21 January 2018

1 reference

Guidelines for investigating causality of sequence variants in human disease

21 January 2018

1 reference

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

21 January 2018

1 reference

Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26382860

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26382860

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NI.3275

1 reference

25 September 2017

1 reference