Lista de obras - Laia Alsina - Dominio Público Uruguay

A 10% liquid immunoglobulin preparation for intravenous use (Privigen®) in paediatric patients with primary immunodeficiencies and hypersensitivity to IVIG.

artículo científico publicado en 2012

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

artículo científico publicado en 2014

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

artículo científico publicado en 2010

Ampliación del cribado neonatal a la detección de inmunodeficiencias combinadas graves. Un imperativo moral

Association of Polymorphisms in IRAK1, IRAK4 and MyD88, and Severe Invasive Pneumococcal Disease

artículo científico publicado en 2015

B Regulatory Cells: Players in Pregnancy and Early Life

artículo científico publicado en 2018

Characterization of the Highly Prevalent Regulatory CD24hiCD38hi B-Cell Population in Human Cord Blood

artículo científico publicado en 2017

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

artículo científico publicado en 2020

Cholecystitis and nephrotic syndrome complicating Epstein-Barr virus primary infection.

artículo científico publicado en 2016

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

artículo científico publicado en 2010

Clues to management of neonatally diagnosed BTK deficiency.

artículo científico publicado en 2016

Epstein-Barr virus infection triggering a haemophagocytic syndrome

artículo científico publicado en 2013

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

artículo científico publicado en 2018

Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice

artículo científico publicado en 2017

Fenotipos clínicos asociados a la deficiencia selectiva de IgA: revisión de 330 casos y propuesta de un protocolo de seguimiento

Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

article

From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family

artículo científico publicado en 2012

Glutamine effects on heat shock protein 70 and interleukines 6 and 10: Randomized trial of glutamine supplementation versus standard parenteral nutrition in critically ill children

artículo científico publicado en 2015

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

artículo científico publicado en 2011

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

artículo científico publicado en 2015

Humoral deficiency in three paediatric patients with genetic diseases

artículo científico publicado en 2016

IRF8 mutations and human dendritic-cell immunodeficiency

artículo científico publicado en 2011

Immunological Changes in Blood of Newborns Exposed to Anti-TNF-α during Pregnancy

artículo científico publicado en 2017

Immunomodulation in sepsis: the role of endotoxin removal by polymyxin B-immobilized cartridge

artículo científico publicado en 2013

Impact of CD4 T cell count on the outcome of planned treatment interruptions in early-treated human immunodeficiency virus-infected children

artículo científico publicado en 2011

Impaired cellular immune response to tetanus toxoid but not to cytomegalovirus in effectively HAART-treated HIV-infected children

artículo científico publicado en 2013

Kinetics of humoral deficiency in CART19-treated children and young adults with acute lymphoblastic leukaemia

scientific article published on 14 August 2020

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

artículo científico publicado en 2018

Long-term use of bisphosphonates in the treatment of HIV-related bone pain in perinatally infected pediatric patients

article

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

artículo científico publicado en 2013

Meningococcal Serogroup B Disease in Vaccinated Children

scientific article published on 21 October 2019

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

artículo científico publicado en 2019

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

artículo científico publicado en 2016

Neonatal pulmonary tuberculosis evolving to a destroyed lung.

artículo científico publicado en 2008

Non-Hodgkin lymphoma in pediatric patients with common variable immunodeficiency.

artículo científico publicado en 2015

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection

artículo científico publicado en 2014

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

artículo científico publicado en 2018

Picture of the Month—Quiz Case

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

artículo científico publicado en 2016

Pyogenic bacterial infections in humans with MyD88 deficiency

artículo científico publicado en 2008

Recurrent invasive pneumococcal disease in children: underlying clinical conditions, and immunological and microbiological characteristics

artículo científico publicado en 2015

Reply to correspondence letter by M. Korppi

artículo científico publicado en 2012

Serum allergen-specific IgA is not associated with natural or induced tolerance to egg in children

artículo científico publicado en 2013

Serum sIgG4, but not sIgA, is involved in induced and natural tolerance to egg allergens.

artículo científico publicado en 2013

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 hypersplenism associated to hemophagocytic and lymphoproliferative syndrome secondary to Epstein-Barr virus infection. A report of two cases

artículo científico publicado en 2016

Single-cycle rituximab-induced immunologic changes in children: Enhanced in neuroimmunologic disease?

scientific article published on 06 May 2020

Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells.

artículo científico publicado en 2018

Surveillance study on the tolerability and safety of Flebogamma® DIF (10% and 5% intravenous immunoglobulin) in adult and pediatric patients

artículo científico publicado en 2017

Systems scale interactive exploration reveals quantitative and qualitative differences in response to influenza and pneumococcal vaccines

artículo científico publicado en 2013

Síndromes hemofagocíticos: la importancia del diagnóstico y tratamiento precoces

The European Society for Immunodeficiencies (ESID) registry 2014

The Long Road to Biologic Therapies for Asthma in Pediatric Patients

artículo científico publicado en 2020

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

The expansion of human T-bet high CD21 low B cells is T cell dependent

Toll-like receptor 3 deficiency in autoimmune encephalitis post-herpes simplex encephalitis

artículo científico publicado en 2019

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

[The new scenario of primary immunodeficiencies and the role of the clinical immunologist in the specialised clinic]

artículo científico publicado en 2019

Lista de obras de Laia Alsina

A 10% liquid immunoglobulin preparation for intravenous use (Privigen®) in paediatric patients with primary immunodeficiencies and hypersensitivity to IVIG.

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

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

Ampliación del cribado neonatal a la detección de inmunodeficiencias combinadas graves. Un imperativo moral

Association of Polymorphisms in IRAK1, IRAK4 and MyD88, and Severe Invasive Pneumococcal Disease

B Regulatory Cells: Players in Pregnancy and Early Life

Characterization of the Highly Prevalent Regulatory CD24hiCD38hi B-Cell Population in Human Cord Blood

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations

Cholecystitis and nephrotic syndrome complicating Epstein-Barr virus primary infection.

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

Clues to management of neonatally diagnosed BTK deficiency.

Epstein-Barr virus infection triggering a haemophagocytic syndrome

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice

Fenotipos clínicos asociados a la deficiencia selectiva de IgA: revisión de 330 casos y propuesta de un protocolo de seguimiento

Frequency, symptoms, risk factors, and outcomes of autoimmune encephalitis after herpes simplex encephalitis: a prospective observational study and retrospective analysis

From Severe Combined Immunodeficiency to Omenn syndrome after hematopoietic stem cell transplantation in a RAG1 deficient family

Glutamine effects on heat shock protein 70 and interleukines 6 and 10: Randomized trial of glutamine supplementation versus standard parenteral nutrition in critically ill children

Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity

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

Humoral deficiency in three paediatric patients with genetic diseases

IRF8 mutations and human dendritic-cell immunodeficiency

Immunological Changes in Blood of Newborns Exposed to Anti-TNF-α during Pregnancy

Immunomodulation in sepsis: the role of endotoxin removal by polymyxin B-immobilized cartridge

Impact of CD4 T cell count on the outcome of planned treatment interruptions in early-treated human immunodeficiency virus-infected children

Impaired cellular immune response to tetanus toxoid but not to cytomegalovirus in effectively HAART-treated HIV-infected children

Kinetics of humoral deficiency in CART19-treated children and young adults with acute lymphoblastic leukaemia

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

Long-term use of bisphosphonates in the treatment of HIV-related bone pain in perinatally infected pediatric patients

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

Meningococcal Serogroup B Disease in Vaccinated Children

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

Natural Killer Cell Receptors and Cytotoxic Activity in Phosphomannomutase 2 Deficiency (PMM2-CDG)

Neonatal pulmonary tuberculosis evolving to a destroyed lung.

Non-Hodgkin lymphoma in pediatric patients with common variable immunodeficiency.

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects

Picture of the Month—Quiz Case

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Pyogenic bacterial infections in humans with MyD88 deficiency

Recurrent invasive pneumococcal disease in children: underlying clinical conditions, and immunological and microbiological characteristics

Reply to correspondence letter by M. Korppi

Serum allergen-specific IgA is not associated with natural or induced tolerance to egg in children

Serum sIgG4, but not sIgA, is involved in induced and natural tolerance to egg allergens.

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

Severe hypersplenism associated to hemophagocytic and lymphoproliferative syndrome secondary to Epstein-Barr virus infection. A report of two cases

Single-cycle rituximab-induced immunologic changes in children: Enhanced in neuroimmunologic disease?

Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells.

Surveillance study on the tolerability and safety of Flebogamma® DIF (10% and 5% intravenous immunoglobulin) in adult and pediatric patients

Systems scale interactive exploration reveals quantitative and qualitative differences in response to influenza and pneumococcal vaccines

Síndromes hemofagocíticos: la importancia del diagnóstico y tratamiento precoces

The European Society for Immunodeficiencies (ESID) registry 2014

The Long Road to Biologic Therapies for Asthma in Pediatric Patients

The PedPAD study: boys predominate in the hypogammaglobulinaemia registry of the ESID online database

The expansion of human T-bet high CD21 low B cells is T cell dependent

Toll-like receptor 3 deficiency in autoimmune encephalitis post-herpes simplex encephalitis

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

[The new scenario of primary immunodeficiencies and the role of the clinical immunologist in the specialised clinic]

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