(Q36981181)

17 August 2017

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title

Immunological and genetic bases of new primary immunodeficiencies (English)

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17 August 2017

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2

Luigi D Notarangelo

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17 August 2017

László Maródi

1

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17 August 2017

1 November 2007

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Nature Reviews Immunology

17 August 2017

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17 August 2017

7

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17 August 2017

11

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17 August 2017

851-861

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A LAD-III syndrome is associated with defective expression of the Rap-1 activator CalDAG-GEFI in lymphocytes, neutrophils, and platelets

17 August 2017

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The ESID Online Database network

21 January 2018

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IDR knowledge base for primary immunodeficiencies

31 March 2020

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Primary immunodeficiency diseases due to defects in lymphocytes

31 March 2020

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Human primary immunodeficiency diseases: a perspective

31 March 2020

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The Toll-like receptors: analysis by forward genetic methods

31 March 2020

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Cooperation of Toll-like receptor signals in innate immune defence

31 March 2020

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Macrophage receptors and immune recognition

31 March 2020

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Pyogenic bacterial infections in humans with IRAK-4 deficiency

31 March 2020

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Herpes simplex virus encephalitis in human UNC-93B deficiency

31 March 2020

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TLR3 deficiency in patients with herpes simplex encephalitis

31 March 2020

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31 March 2020

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Defective interleukin-12/interferon-gamma pathway in patients with hyperimmunoglobulinemia E syndrome

31 March 2020

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Autosomal recessive hyperimmunoglobulin E syndrome: a distinct disease entity

31 March 2020

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Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity

31 March 2020

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The hyper IgE syndrome and mutations in TYK2

31 March 2020

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

31 March 2020

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STAT3 mutations in the hyper-IgE syndrome

31 March 2020

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STAT3 regulates cytokine-mediated generation of inflammatory helper T cells

31 March 2020

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IL-22 increases the innate immunity of tissues

31 March 2020

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Understanding the genetic basis of susceptibility to mycobacterial infection

31 March 2020

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Human genetics of infectious diseases: a unified theory

31 March 2020

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Defects in the interferon-gamma and interleukin-12 pathways

31 March 2020

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

31 March 2020

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A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease

31 March 2020

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Severe congenital neutropenia: inheritance and pathophysiology

31 March 2020

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

31 March 2020

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Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia

31 March 2020

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Unregulated actin polymerization by WASp causes defects of mitosis and cytokinesis in X-linked neutropenia

31 March 2020

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

31 March 2020

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Galpha13 stimulates cell migration through cortactin-interacting protein Hax-1.

31 March 2020

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A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14.

31 March 2020

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p14-MP1-MEK1 signaling regulates endosomal traffic and cellular proliferation during tissue homeostasis

31 March 2020

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The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins

31 March 2020

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Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

31 March 2020

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Innate immunity defects in Hermansky-Pudlak type 2 syndrome

31 March 2020

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A novel genetic leukocyte adhesion deficiency in subsecond triggering of integrin avidity by endothelial chemokines results in impaired leukocyte arrest on vascular endothelium under shear flow.

31 March 2020

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Mutations of the Igbeta gene cause agammaglobulinemia in man.

31 March 2020

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Development of human lymphoid cells

31 March 2020

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CD19: lowering the threshold for antigen receptor stimulation of B lymphocytes

31 March 2020

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An antibody-deficiency syndrome due to mutations in the CD19 gene

31 March 2020

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Defects of class-switch recombination

31 March 2020

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Genetically acquired class-switch recombination defects: the multi-faced hyper-IgM syndrome

31 March 2020

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A 39-kDa protein on activated helper T cells binds CD40 and transduces the signal for cognate activation of B cells

31 March 2020

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Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

31 March 2020

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Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM.

31 March 2020

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

31 March 2020

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The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

31 March 2020

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Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells

31 March 2020

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Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2)

31 March 2020

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Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination

31 March 2020

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Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination

31 March 2020

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A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair

31 March 2020

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Role for Msh5 in the regulation of Ig class switch recombination

31 March 2020

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hMSH4-hMSH5 recognizes Holliday Junctions and forms a meiosis-specific sliding clamp that embraces homologous chromosomes

31 March 2020

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Severe combined immunodeficiency due to defective binding of the nuclear factor of activated T cells in T lymphocytes of two male siblings

31 March 2020

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Dissecting ICRAC, a store-operated calcium current

31 March 2020

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A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function

31 March 2020

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Orai1 is an essential pore subunit of the CRAC channel

31 March 2020

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The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations

31 March 2020

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A spectrum of mutations in SH2D1A that causes X-linked lymphoproliferative disease and other Epstein-Barr virus-associated illnesses

31 March 2020

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Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

31 March 2020

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

31 March 2020

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XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome

31 March 2020

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Genetic disorders of programmed cell death in the immune system

31 March 2020

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Autoimmune lymphoproliferative syndrome with somatic Fas mutations

31 March 2020

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Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways

31 March 2020

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Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II

31 March 2020

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A homozygous Fas ligand gene mutation in a patient causes a new type of autoimmune lymphoproliferative syndrome.

31 March 2020

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The induction of Bim expression in human T-cell blasts is dependent on nonapoptotic Fas/CD95 signaling

31 March 2020

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RAS oncogenes: the first 30 years.

31 March 2020

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Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

31 March 2020

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Germline mutations in HRAS proto-oncogene cause Costello syndrome

31 March 2020

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NRAS mutation causes a human autoimmune lymphoproliferative syndrome.

31 March 2020

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Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor

31 March 2020

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CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes

31 March 2020

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

31 March 2020

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A function for interleukin 2 in Foxp3-expressing regulatory T cells

31 March 2020

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Immunodeficiencies with autoimmune consequences.

31 March 2020

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Venocclusive Disease of the Liver after Bone Marrow Transplantation: Diagnosis, Incidence, and Predisposing Factors

31 March 2020

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Mutations in the gene encoding the PML nuclear body protein Sp110 are associated with immunodeficiency and hepatic veno-occlusive disease

31 March 2020

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Education and worldwide collaboration pays off

31 March 2020

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Clinical aspects of chronic granulomatous disease

31 March 2020

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Local and systemic host defense mechanisms against Candida: immunopathology of candidal infections

31 March 2020

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Regulation and termination of NADPH oxidase activity

31 March 2020

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Gastrointestinal involvement in chronic granulomatous disease

31 March 2020

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Interactions between Neisseria meningitidis and the complement system.

31 March 2020

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Mutations in two adjacent novel genes are associated with epidermodysplasia verruciformis

31 March 2020

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Partial interferon-gamma receptor 1 deficiency in a child with tuberculoid bacillus Calmette-Guérin infection and a sibling with clinical tuberculosis

31 March 2020

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

31 March 2020

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In a novel form of IFN-gamma receptor 1 deficiency, cell surface receptors fail to bind IFN-gamma

31 March 2020

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Primary immunodeficiency: looking backwards, looking forwards

31 March 2020

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Genetic analysis of patients with defects in early B-cell development

31 March 2020

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Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

31 March 2020

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A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.

31 March 2020

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Molecular and cellular pathogenesis of X-linked lymphoproliferative disease

31 March 2020

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The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease

31 March 2020

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31 March 2020

Identifiers

DOI

10.1038/NRI2195

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17 August 2017

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PubMed ID

17960151