about
Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiencyMendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunityIL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation databaseDiagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiencyPyogenic bacterial infections in humans with IRAK-4 deficiencyHuman TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndromeHematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)Hematologically important mutations: X-linked chronic granulomatous disease (third update)IL-12Rβ1 deficiency in two of fifty children with severe tuberculosis from Iran, Morocco, and TurkeyA novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon.Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface ExpressionNovel STAT1 alleles in otherwise healthy patients with mycobacterial disease.Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency.B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans.Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type IPrimary immunodeficiencies underlying fungal infectionsAssociation study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco.Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.Inherited disorders of human Toll-like receptor signaling: immunological implications.Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an InfantClinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency.The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.A novel form of human STAT1 deficiency impairing early but not late responses to interferons.Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.Hodgkin lymphoma in 2 children with chronic granulomatous disease.A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities.A partial form of recessive STAT1 deficiency in humans.Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation.Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds.Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.IRF8 mutations and human dendritic-cell immunodeficiency.Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasisPrimary immunodeficiencies associated with pneumococcal disease.Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency.
P50
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P50
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hulumtuese
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հետազոտող
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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Jacinta Bustamante
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P214
P1053
H-7877-2017
P106
P21
P214
P31
P3829
P496
0000-0002-3439-2482
P734
P735
P7859
viaf-198899649