(Q43894530)

27 November 2017

Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes (English)

1 reference

27 November 2017

3

Luigi D Notarangelo

1 reference

27 November 2017

Itai Pessach

1

1 reference

27 November 2017

Jolan Walter

series ordinal

2

1 reference

27 November 2017

language of work or name

English

0 references

publication date

1 May 2009

1 reference

27 November 2017

1 reference

27 November 2017

65

1 reference

27 November 2017

5 Pt 2

1 reference

27 November 2017

3R-12R

1 reference

https://scigraph.springernature.com/pub.10.1203/pdr.0b013e31819dbe1e

27 November 2017

0 references

cites work

Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Antibody deficiency diseases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

From infectious diseases to primary immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Human genetics of infectious diseases: a unified theory

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Revisiting human primary immunodeficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Reticular dysgenesis (aleukocytosis) is caused by mutations in the gene encoding mitochondrial adenylate kinase 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

DNA repair and the immune system: From V(D)J recombination to aging lymphocytes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Defective DNA-dependent protein kinase activity is linked to V(D)J recombination and DNA repair defects associated with the murine scid mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

DNA-PKcs mutations in dogs and horses: allele frequency and association with neoplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Lessons from the Wiskott-Aldrich syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A molecular classification of congenital neutropenia syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genetic heterogeneity in severe congenital neutropenia: how many aberrant pathways can kill a neutrophil?

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Mutations in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Inactivation of the glucose 6-phosphate transporter causes glycogen storage disease type 1b.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A syndrome with congenital neutropenia and mutations in G6PC3

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Inherited human IRAK-4 deficiency: an update.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Pyogenic bacterial infections in humans with MyD88 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Complement and properidin deficiencies in meningococcal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Interactions between Neisseria meningitidis and the complement system.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Herpes simplex virus encephalitis in human UNC-93B deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

TLR3 deficiency in patients with herpes simplex encephalitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Molecular and cellular pathogenesis of X-linked lymphoproliferative disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genetics of epidermodysplasia verruciformis: Insights into host defense against papillomaviruses

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genetic dissection of immunity to mycobacteria: the human model

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Interferon-gamma-receptor deficiency in an infant with fatal bacille Calmette-Guérin infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A mutation in the interferon-gamma-receptor gene and susceptibility to mycobacterial infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Mutation in the signal-transducing chain of the interferon-gamma receptor and susceptibility to mycobacterial infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The novel IFNGR1 mutation 774del4 produces a truncated form of interferon-gamma receptor 1 and has a dominant-negative effect on interferon-gamma signal transduction

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Gain-of-glycosylation mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The role of interleukin-12 in human infectious diseases: only a faint signature

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO)

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Human herpes simplex virus infections: epidemiology, pathogenesis, symptomatology, diagnosis, and management

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A systematic review of the epidemiology and interaction of herpes simplex virus types 1 and 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Herpes encephalitis is a disease of middle aged and elderly people: polymerase chain reaction for detection of herpes simplex virus in the CSF of 516 patients with encephalitis. The Study Group

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Herpes simplex encephalitis: adolescents and adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The interaction between the ER membrane protein UNC93B and TLR3, 7, and 9 is crucial for TLR signaling

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The role of Streptococcus pneumoniae virulence factors in host respiratory colonization and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Primary immunodeficiencies associated with pneumococcal disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Pyogenic bacterial infections in humans with IRAK-4 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Primary immunodeficiency to pneumococcal infection due to a defect in Toll-like receptor signaling.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Interleukin receptor-associated kinase (IRAK-4) deficiency associated with bacterial infections and failure to sustain antibody responses

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

TLR9 activation induces normal neutrophil responses in a child with IRAK-4 deficiency: involvement of the direct PI3K pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Inherited disorders of human Toll-like receptor signaling: immunological implications.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Recurrent infection with genetically identical pneumococcal isolates in a patient with interleukin-1 receptor-associated kinase-4 deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The population genetics of the haemoglobinopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Heritability of malaria in Africa

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Human malaria: segregation analysis of blood infection levels in a suburban area and a rural area in Burkina Faso

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Linkage and association between Plasmodium falciparum blood infection levels and chromosome 5q31-q33.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

How malaria has affected the human genome and what human genetics can teach us about malaria

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genome-wide linkage analysis of malaria infection intensity and mild disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Positive replication and linkage disequilibrium mapping of the chromosome 21q22.1 malaria susceptibility locus

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Association of the GNAS locus with severe malaria

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Schistosomal hepatic fibrosis and the interferon gamma receptor: a linkage analysis using single-nucleotide polymorphic markers

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genetic epidemiology of human schistosomiasis in Brazil

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A Major Susceptibility Locus on Chromosome 22q12 Plays a Critical Role in the Control of Kala-Azar

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genetic control of visceral leishmaniasis in a Sudanese population: candidate gene testing indicates a linkage to the NRAMP1 region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genes and environment in susceptibility to visceral leishmaniasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Y chromosome lineage- and village-specific genes on chromosomes 1p22 and 6q27 control visceral leishmaniasis in Sudan.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genetic dissection of immunity in leprosy

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Leprosy as a genetic model for susceptibility to common infectious diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Chromosome 6q25 is linked to susceptibility to leprosy in a Vietnamese population

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Susceptibility to leprosy is associated with PARK2 and PACRG.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Genetic predisposition to leprosy: A major gene reveals novel pathways of immunity to Mycobacterium leprae

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Membrane cofactor protein mutations in atypical hemolytic uremic syndrome (aHUS), fatal Stx-HUS, C3 glomerulonephritis, and the HELLP syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Mutations in complement C3 predispose to development of atypical hemolytic uremic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

The spectrum of complement alternative pathway-mediated diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Inherited complement regulatory protein deficiency predisposes to human disease in acute injury and chronic inflammatory statesthe examples of vascular damage in atypical hemolytic uremic syndrome and debris accumulation in age-related macular degen

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Idiopathic pulmonary alveolar proteinosis as an autoimmune disease with neutralizing antibody against granulocyte/macrophage colony-stimulating factor.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

An immunodeficiency disease with RAG mutations and granulomas

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Clinical features of dominant and recessive interferon γ receptor 1 deficiencies

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Autosomal recessive Interleukin-1 receptor-associated kinase 4 deficiency in fourth-degree relatives

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Shigella sonnei Meningitis Due to Interleukin-1 Receptor--Associated Kinase--4 Deficiency: First Association with a Primary Immune Deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

Full results of the genome-wide scan which localises a locus controlling the intensity of infection by Schistosoma mansoni on chromosome 5q31–q33

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

A major susceptibility locus for leprosy in India maps to chromosome 10p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1203%2FPDR.0B013E31819DBE1E

10.1203/PDR.0B013E31819DBE1E

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

27 November 2017

0 references

1 reference