Filtros de búsqueda

Lista de obras de Jacinta Bustamante

135 Mycobacterial Infections in cChildren With Chronic Granulomatous Disease.

artículo científico publicado en 2012

A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation

artículo científico publicado en 2013

A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate

artículo científico publicado en 2019

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

A genome-wide case-only test for the detection of digenic inheritance in human exomes

artículo científico publicado en 2020

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

artículo científico publicado en 2007

A novel form of cell type-specific partial IFN-gammaR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codon

artículo científico publicado en 2009

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

artículo científico publicado en 2004

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

artículo científico publicado en 2010

A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease

artículo científico publicado en 2013

A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

scientific article published on 12 April 2020

A partial form of recessive STAT1 deficiency in humans

artículo científico publicado en 2009

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

artículo científico publicado en 2019

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

scientific article published on 01 November 2018

A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity

scientific article published on 01 June 2018

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease

artículo científico publicado en 2011

Age-dependent association between pulmonary tuberculosis and common TOX variants in the 8q12-13 linkage region

artículo científico publicado en 2013

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

artículo científico publicado en 2016

Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD).

artículo científico publicado en 2010

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

artículo científico publicado en 2017

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia

article

Association study of genes controlling IL-12-dependent IFN-γ immunity: STAT4 alleles increase risk of pulmonary tuberculosis in Morocco

artículo científico publicado en 2014

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

artículo científico publicado en 2010

Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

artículo científico publicado en 2018

Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations

artículo científico publicado en 2020

B cell-intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

artículo científico publicado en 2010

BCG-osis and tuberculosis in a child with chronic granulomatous disease

scholarly article by Jacinta Bustamante et al published July 2007 in The Journal of Allergy and Clinical Immunology

Bacille Calmette-Guérin lymphadenitis and recurrent oral candidiasis in an infant with a new mutation leading to interleukin-12 receptor beta-1 deficiency.

artículo científico publicado en 2011

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

artículo científico publicado en 2004

Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France

artículo científico publicado en 2017

Chronic granulomatous disease in Morocco: genetic, immunological, and clinical features of 12 patients from 10 kindreds

artículo científico publicado en 2014

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

artículo científico publicado en 2011

Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry

artículo científico publicado en 2015

Clinical disease caused by Klebsiella in 2 unrelated patients with interleukin 12 receptor beta1 deficiency

artículo científico publicado en 2010

Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency

artículo científico publicado en 2013

Clinical immunology Disseminated Mycobacterium tuberculosis complex infection in a girl with partial dominant IFN-γ receptor 1 deficiency

scholarly article by Malgorzata Pac et al published 2012 in Central-European Journal of Immunology

Clinical, immunologic and genetic analysis of 29 patients with autosomal recessive hyper-IgM syndrome due to Activation-Induced Cytidine Deaminase deficiency

artículo científico publicado en 2004

Comment on "Impaired priming and activation of the neutrophil NADPH oxidase in patients with IRAK4 or NEMO deficiency".

artículo científico publicado en 2009

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.

artículo científico publicado en 2008

Correction to: Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

artículo científico publicado en 2019

Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]

scholarly article published in Seminars in Immunology

Diagnostic and therapeutic challenges in a child with complete interferon-γ receptor 1 deficiency

artículo científico publicado en 2015

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

scientific article published on 20 August 2018

Disseminated BCG osteomyelitis related to STAT 1 gene deficiency mimicking a metastatic neuroblastoma

artículo científico publicado en 2016

Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency.

artículo científico publicado en 2017

Disseminated Mycobacterial Disease in a Patient with 22q11.2 Deletion Syndrome: Case Report and Review of the Literature

scientific article published on 05 August 2019

Disseminated Mycobacterium avium complex infection in a child with partial dominant interferon gamma receptor 1 deficiency in India

artículo científico publicado en 2015

Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations.

artículo científico publicado en 2016

Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient

scientific article published on 28 September 2018

Erratum to: Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

scholarly article published in Journal of Clinical Immunology

Erratum: Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

artículo científico publicado en 2015

Essential role of nuclear factor-kappaB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

artículo científico publicado en 2008

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

artículo científico publicado en 2020

From idiopathic infectious diseases to novel primary immunodeficiencies

From infectious diseases to primary immunodeficiencies

artículo científico publicado en 2008

Functional STAT3 deficiency compromises the generation of human T follicular helper cells.

artículo científico publicado en 2012

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

artículo científico publicado en 2011

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

artículo científico publicado en 2005

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

artículo científico publicado en 2011

Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease

scientific article published on 10 February 2020

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

artículo científico publicado en 2016

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease

artículo científico publicado en 2011

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency.

artículo científico publicado en 2012

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease

artículo científico publicado en 2012

Helper T cell immunity in humans with inherited CD4 deficiency

artículo científico publicado en 2024

Hematologically important mutations: X-linked chronic granulomatous disease (third update)

artículo científico publicado en 2010

Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update)

artículo científico publicado en 2010

Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections

artículo científico publicado en 2017

Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients

scientific article published on 25 April 2019

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

artículo científico publicado en 2017

Heritable defects of the human TLR signalling pathways

artículo científico publicado en 2005

Herpes simplex encephalitis in a patient with a distinctive form of inherited IFNAR1 deficiency

scientific article published on 22 September 2020

Hodgkin lymphoma in 2 children with chronic granulomatous disease

artículo científico publicado en 2010

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

artículo científico publicado en 2020

Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

artículo científico publicado en 2019

Human IFN-γ immunity to mycobacteria is governed by both IL-12 and IL-23

artículo científico publicado en 2018

Human Lentiviral Gene Therapy Restores the Cellular Phenotype of Autosomal Recessive Complete IFN-γR1 Deficiency

artículo científico publicado en 2020

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

scientific article published on 03 December 2020

Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis

artículo científico publicado en 2010

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

artículo científico publicado en 2015

Human genetic and immunological determinants of critical COVID-19 pneumonia

artículo científico publicado en 2022

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

artículo científico publicado en 2014

ICON: the early diagnosis of congenital immunodeficiencies

artículo científico

IFN-γ and CD25 drive distinct pathologic features during hemophagocytic lymphohistiocytosis

artículo científico publicado en 2018

IL-12 drives functional plasticity of human group 2 innate lymphoid cells

artículo científico publicado en 2016

IL-12 receptor β1 deficiency alters in vivo T follicular helper cell response in humans

artículo científico publicado en 2013

IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease

IL-12Rβ1 defect presenting with massive intraabdominal lymphadenopathy due to Mycobacterium intracellulare: A case report.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

artículo científico publicado en 2013

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

artículo científico publicado en 2013

IMMUNODEFICIENCIES. Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

artículo científico publicado en 2015

IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease

artículo científico publicado en 2006

IRF4 haploinsufficiency in a family with Whipple's disease.

artículo científico publicado en 2018

IRF8 mutations and human dendritic-cell immunodeficiency

artículo científico publicado en 2011

Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

scientific article published on 25 September 2018

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

artículo científico publicado en 2006

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense

artículo científico publicado en 2008

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene.

artículo científico publicado en 2016

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections

scientific article published on 15 January 2020

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance

artículo científico publicado en 2021

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

artículo científico publicado en 2017

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

artículo científico publicado en 2017

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

artículo científico publicado en 2013

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

artículo científico publicado en 2015

Inherited PD-1 deficiency underlies tuberculosis and autoimmunity in a child

artículo científico publicado en 2021

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

artículo científico publicado en 2015

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

artículo científico publicado en 2005

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection

artículo científico publicado en 2005

Inherited human IFNγ deficiency underlies mycobacterial disease

artículo científico publicado en 2020

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

artículo científico publicado en 2013

Inherited p40phox deficiency differs from classic chronic granulomatous disease

scientific article published on 06 August 2018

Interferon-gamma-dependent Immunity in Bacillus Calmette-Guérin Vaccine Osteitis Survivors

artículo científico publicado en 2016

Interferon-γ Autoantibodies as Predisposing Factor for Nontuberculous Mycobacterial Infection

artículo científico publicado en 2016

JAK Inhibitor Therapy in a Child with Inherited USP18 Deficiency

scientific article published on 01 January 2020

LINE-1-Mediated AluYa5 Insertion Underlying Complete Autosomal Recessive IFN-γR1 Deficiency

artículo científico publicado en 2019

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

artículo científico publicado en 2018

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Leukocyte Adhesion Deficiency Type 1 (LAD1) with Expressed but Nonfunctional CD11/CD18.

artículo científico publicado en 2016

Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity

artículo científico publicado en 2019

Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications

artículo científico publicado en 2003

Major Loci on Chromosomes 8q and 3q Control Interferon γ Production Triggered by Bacillus Calmette-Guerin and 6-kDa Early Secretory Antigen Target, Respectively, in Various Populations

artículo científico publicado en 2015

Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients

scientific article published on 30 June 2020

Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.

artículo científico publicado en 2018

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

artículo científico publicado en 2016

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

artículo científico publicado en 2016

Mendelian susceptibility to mycobacterial disease in egyptian children

artículo científico publicado en 2012

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

scientific article published on 25 October 2018

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

artículo científico publicado en 2014

Mendelian susceptibility to mycobacterial disease: recent discoveries

artículo científico publicado en 2020

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

artículo científico publicado en 2017

Molecular, Immunological, and Clinical Features of 16 Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

artículo científico publicado en 2019

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

artículo científico publicado en 2015

Multibatch Cytometry Data Integration for Optimal Immunophenotyping

scientific article published on 23 November 2020

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

artículo científico publicado en 2017

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

artículo científico publicado en 2010

Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency

artículo científico publicado en 2019

Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency

artículo científico publicado en 2012

Mycobacterial disease in patients with chronic granulomatous disease: A retrospective analysis of 71 cases.

artículo científico publicado en 2016

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

artículo científico publicado en 2014

NEMO Mutations in 2 Unrelated Boys With Severe Infections and Conical Teeth

artículo científico publicado en 2005

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

artículo científico publicado en 2013

Negative selection on human genes underlying inborn errors depends on disease outcome and both the mode and mechanism of inheritance

artículo científico publicado en 2021

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

artículo científico publicado en 2011

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease

artículo científico publicado en 2006

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

artículo científico publicado en 2008

Paracoccidioidomycosis Associated With a Heterozygous STAT4 Mutation and Impaired IFN-γ Immunity

artículo científico publicado en 2017

Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

artículo científico publicado en 2013

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindreds

artículo científico publicado en 2011

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-gamma receptor 1 deficiency

article by Carolina Prando et al published March 2010 in American Journal of Medical Genetics

Patient iPSC-Derived Macrophages to Study Inborn Errors of the IFN-γ Responsive Pathway

scientific article published on 19 February 2020

Phagocyte nicotinamide adenine dinucleotide phosphate oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

artículo científico publicado en 2014

Pott's disease in Moroccan children: clinical features and investigation of the interleukin-12/interferon-γ pathway

artículo científico publicado en 2015

Primary immunodeficiencies associated with pneumococcal disease

artículo científico publicado en 2003

Primary immunodeficiencies of protective immunity to primary infections

artículo científico publicado en 2010

Primary immunodeficiencies underlying fungal infections

artículo científico publicado en 2013

Prédisposition mendélienne aux infections mycobactériennes et défaut de l’explosion oxydative des macrophages

Pyogenic bacterial infections in humans with IRAK-4 deficiency

artículo científico publicado en 2003

Recurrent Salmonella typhi Infection and Autoimmunity in a Young Boy with Complete IL-12 Receptor β1 Deficiency

scientific article published on 17 May 2019

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency

scholarly article published 4 June 2014

Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency

artículo científico publicado en 2018

Respiratory Complications Lead to the Diagnosis of Chronic Granulomatous Disease in Two Adult Patients

artículo científico publicado en 2017

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

artículo científico publicado en 2010

Rhinoscleroma: a French national retrospective study of epidemiological and clinical features

artículo científico publicado en 2008

Role of Flow Cytometry in the Diagnosis of Chronic Granulomatous Disease: the Egyptian Experience

artículo científico publicado en 2016

STAT3 is a critical cell-intrinsic regulator of human unconventional T cell numbers and function

artículo científico publicado en 2015

Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation

artículo científico publicado en 2005

Severe BCG-osis Misdiagnosed as Multidrug-Resistant Tuberculosis in an IL-12Rβ1-Deficient Peruvian Girl

scholarly article by Ana Esteve-Sole et al published 23 July 2018 in Journal of Clinical Immunology

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency.

artículo científico publicado en 2017

Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA

artículo científico publicado en 2015

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

scientific article published on 04 July 2013

Systemic Human ILC Precursors Provide a Substrate for Tissue ILC Differentiation.

artículo científico publicado en 2017

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

scientific article published on 01 May 2020

T-cell defects in patients with germline mutations account for combined immunodeficiency

artículo científico publicado en 2018

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

artículo científico publicado en 2006

The human gene damage index as a gene-level approach to prioritizing exome variants

artículo científico publicado en 2015

Transduction of Herpesvirus saimiri-Transformed T Cells with Exogenous Genes of Interest.

artículo científico publicado en 2016

Transient Decrease of Circulating and Tissular Dendritic Cells in Patients With Mycobacterial Disease and With Partial Dominant IFNγR1 Deficiency

artículo científico publicado en 2020

Tuberculin skin test negativity is under tight genetic control of chromosomal region 11p14-15 in settings with different tuberculosis endemicities

artículo científico publicado en 2014

Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common missense variant

scientific article published on 01 December 2018

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+ T cells into distinct effector subsets.

artículo científico publicado en 2016

Use of corticosteroids as an alternative to surgical treatment for liver abscesses in chronic granulomatous disease

Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant

artículo científico publicado en 2013

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

artículo científico publicado en 2016

X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

scholarly article by Takaki Asano published in 2021

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

artículo científico publicado en 2006

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda