Human genetics of infectious diseases: Unique insights into immunological redundancy (Q47279598)

13 January 2018

review article

1 reference

title

Human genetics of infectious diseases: Unique insights into immunological redundancy (English)

1 reference

13 January 2018

1 reference

Jean-Laurent Casanova

series ordinal

1

object named as

Jean-Laurent Casanova

1 reference

13 January 2018

Laurent Abel

series ordinal

2

object named as

Laurent Abel

1 reference

13 January 2018

publication date

15 December 2017

1 reference

13 January 2018

published in

Seminars in Immunology

1 reference

13 January 2018

Primary immunodeficiencies suggest redundancy within the human immune system.

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Heterogeneity of Human CD4(+) T Cells Against Microbes

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Human RAG mutations: biochemistry and clinical implications

26 August 2018

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Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

26 August 2018

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Health and population effects of rare gene knockouts in adult humans with related parents

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Genomic Signatures of Selective Pressures and Introgression from Archaic Hominins at Human Innate Immunity Genes

26 August 2018

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Severe infectious diseases of childhood as monogenic inborn errors of immunity

26 August 2018

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Human genetic basis of interindividual variability in the course of infection

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Host Genetic Susceptibility to Enteric Viruses: A Systematic Review and Metaanalysis

26 August 2018

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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

26 August 2018

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Mannose-Binding Lectin Gene, MBL2, Polymorphisms Do Not Increase Susceptibility to Invasive Meningococcal Disease in a Population of Danish Children

26 August 2018

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The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies

26 August 2018

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Epidemiologic Association Between FUT2 Secretor Status and Severe Rotavirus Gastroenteritis in Children in the United States

26 August 2018

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Genomics is rapidly advancing precision medicine for immunological disorders

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26 August 2018

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26 August 2018

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26 August 2018

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

26 August 2018

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Identification of a large set of rare complete human knockouts

26 August 2018

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Variation in the human immune system is largely driven by non-heritable influences

26 August 2018

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Disentangling inborn and acquired immunity in human twins

26 August 2018

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Human knockout research: new horizons and opportunities

26 August 2018

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

26 August 2018

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Immunology. Autoimmunity by haploinsufficiency

26 August 2018

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CD36 and malaria: friends or foes? A decade of data provides some answers.

26 August 2018

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Both Lewis and secretor status mediate susceptibility to rotavirus infections in a rotavirus genotype-dependent manner

26 August 2018

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Distribution and medical impact of loss-of-function variants in the Finnish founder population

26 August 2018

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Restoration of MBL-deficiency: redefining the safety, efficacy and viability of MBL-substitution therapy.

26 August 2018

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A general framework for estimating the relative pathogenicity of human genetic variants

26 August 2018

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Deep dermatophytosis and inherited CARD9 deficiency

26 August 2018

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Immunology taught by human genetics

26 August 2018

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Evolutionary implications of a third lymphocyte lineage in lampreys

26 August 2018

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Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

26 August 2018

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Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations

26 August 2018

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The genetic theory of infectious diseases: a brief history and selected illustrations

26 August 2018

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26 August 2018

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Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

26 August 2018

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Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

26 August 2018

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EVER2 deficiency is associated with mild T-cell abnormalities

26 August 2018

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Expansion of somatically reverted memory CD8+ T cells in patients with X-linked lymphoproliferative disease caused by selective pressure from Epstein-Barr virus.

26 August 2018

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Haemoglobinopathies and the clinical epidemiology of malaria: a systematic review and meta-analysis

26 August 2018

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Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

26 August 2018

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Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

26 August 2018

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Spike protein VP8* of human rotavirus recognizes histo-blood group antigens in a type-specific manner

26 August 2018

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VLR-based adaptive immunity

26 August 2018

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Evolutionary genetic dissection of human interferons

26 August 2018

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Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP.

26 August 2018

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CCR5 antagonism in HIV infection: current concepts and future opportunities

26 August 2018

1 reference

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The NLRC4 inflammasome receptors for bacterial flagellin and type III secretion apparatus.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia

26 August 2018

1 reference

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Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

26 August 2018

1 reference

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

26 August 2018

1 reference

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Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

26 August 2018

1 reference

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Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and Turkey

26 August 2018

1 reference

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IRF8 mutations and human dendritic-cell immunodeficiency

26 August 2018

1 reference

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Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency

26 August 2018

1 reference

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The global distribution of the Duffy blood group

26 August 2018

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Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity

26 August 2018

1 reference

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Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics

26 August 2018

1 reference

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Genetic defects in severe congenital neutropenia: emerging insights into life and death of human neutrophil granulocytes

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Evidence for the cure of HIV infection by CCR5Δ32/Δ32 stem cell transplantation

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Isolated congenital asplenia: a French nationwide retrospective survey of 20 cases

26 August 2018

1 reference

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Mechanisms underlying lineage commitment and plasticity of helper CD4+ T cells

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

A life of adventure in immunobiology

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

From evolutionary genetics to human immunology: how selection shapes host defence genes

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Human dectin-1 deficiency and mucocutaneous fungal infections

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

A homozygous CARD9 mutation in a family with susceptibility to fungal infections

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

A natural history of FUT2 polymorphism in humans.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Genetic control of resistance to human malaria

26 August 2018

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Positive selection of a CD36 nonsense variant in sub-saharan Africa, but no association with severe malaria phenotypes

26 August 2018

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Primary B cell immunodeficiencies: comparisons and contrasts

26 August 2018

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Long-term control of HIV by CCR5 Delta32/Delta32 stem-cell transplantation

26 August 2018

1 reference

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Host defenses against human papillomaviruses: lessons from epidermodysplasia verruciformis.

26 August 2018

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Pyogenic bacterial infections in humans with MyD88 deficiency

26 August 2018

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Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.

26 August 2018

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Naturally acquired Duffy-binding protein-specific binding inhibitory antibodies confer protection from blood-stage Plasmodium vivax infection

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Plasmodium vivax invasion of human erythrocytes inhibited by antibodies directed against the Duffy binding protein

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Immunology in natura: clinical, epidemiological and evolutionary genetics of infectious diseases

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

TLR3 deficiency in patients with herpes simplex encephalitis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Combining evidence of natural selection with association analysis increases power to detect malaria-resistance variants

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Human Trypanosoma evansi infection linked to a lack of apolipoprotein L-I

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

B lymphocytes from early vertebrates have potent phagocytic and microbicidal abilities.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Herpes simplex virus encephalitis in human UNC-93B deficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Mendelian resistance to human norovirus infections

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Population distribution of the functional caspase-12 allele

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Evolutionary insights into the high worldwide prevalence of MBL2 deficiency alleles

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Positive natural selection in the human lineage

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Mendelian traits that confer predisposition or resistance to specific infections in humans

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Enhanced bacterial clearance and sepsis resistance in caspase-12-deficient mice

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Sequence variations in PCSK9, low LDL, and protection against coronary heart disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Spread of an inactive form of caspase-12 in humans is due to recent positive selection

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Characterization and functional investigation of single nucleotide polymorphisms (SNPs) in the human TLR5 gene.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Structural basis for Duffy recognition by the malaria parasite Duffy-binding-like domain.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

A homozygous nonsense mutation (428G-->A) in the human secretor (FUT2) gene provides resistance to symptomatic norovirus (GGII) infections

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Inborn errors of immunity to infection: the rule rather than the exception

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

The lectin-complement pathway--its role in innate immunity and evolution

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Human Mannose-binding Lectin in Immunity: Friend, Foe, or Both?

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Differential modulation of endotoxin responsiveness by human caspase-12 polymorphisms

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

The human model: a genetic dissection of immunity to infection in natural conditions

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

A Common Dominant TLR5 Stop Codon Polymorphism Abolishes Flagellin Signaling and Is Associated with Susceptibility to Legionnaires' Disease

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Human susceptibility and resistance to Norwalk virus infection

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Pyogenic bacterial infections in humans with IRAK-4 deficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Apolipoprotein L-I is the trypanosome lytic factor of human serum

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Norwalk virus binds to histo-blood group antigens present on gastroduodenal epithelial cells of secretor individuals

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Haemoglobin C protects against clinical Plasmodium falciparum malaria

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

ABH and Lewis histo-blood group antigens, a model for the meaning of oligosaccharide diversity in the face of a changing world

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

A family with complement factor D deficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

A non-sense mutation in Cd36 gene is associated with protection from severe malaria.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Malaria susceptibility and CD36 mutation

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

RAG mutations in human B cell-negative SCID.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Homozygous defect in HIV-1 coreceptor accounts for resistance of some multiply-exposed individuals to HIV-1 infection

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

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

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Disruption of a GATA motif in the Duffy gene promoter abolishes erythroid gene expression in Duffy–negative individuals

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Properdin deficiency in a family with fulminant meningococcal infections.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

The role of C9 in complement-mediated killing of Neisseria.

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Infantile genetic agranulocytosis. A review with presentation of ten new cases

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Absence of the sixth component of complement in a patient with repeated episodes of meningococcal meningitis

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Human deficiency of the eighth component of complement. The requirement of C8 for serum Neisseria gonorrhoeae bactericidal activity

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

The Resistance Factor to Plasmodium vivax in Blacks

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Familial Deficiency of the Seventh Component of Complement Associated with Recurrent Bacteremic Infections Due to Neisseria

26 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5910248

Hereditary, complete deficiency of complement factor H associated with recurrent meningococcal disease

26 August 2018

1 reference

12 December 2020

Inherited deficiency of ninth component of complement: an increased risk of meningococcal meningitis

1 reference

12 December 2020

B cells in patients with X-linked agammaglobulinemia

1 reference

12 December 2020

Genetic Restriction of HIV-1 Infection and Progression to AIDS by a Deletion Allele of the CKR5 Structural Gene

1 reference

12 December 2020

A decade with agammaglobulinemia

1 reference

12 December 2020

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations

1 reference

12 December 2020

10.1016/J.SMIM.2017.12.008

Identifiers

DOI

1 reference

13 January 2018

PMC publication ID

5910248

0 references

1 reference

13 January 2018