List of works - Laia Alsina

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

scientific article published on 17 December 2012

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

scientific article

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

scientific article

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

scientific article

B Regulatory Cells: Players in Pregnancy and Early Life

scientific article published on 19 July 2018

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

scientific article published on 07 March 2017

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

scientific article published on 09 April 2020

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

scientific article published on 29 January 2016

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

scientific article

Clues to management of neonatally diagnosed BTK deficiency

scientific article

Epstein-Barr virus infection triggering a haemophagocytic syndrome

scientific article

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

scientific article published on 14 May 2018

Evans Syndrome as First Manifestation of Primary Immunodeficiency in Clinical Practice

scientific article published in October 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

scientific article

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

scientific article published on 7 February 2015

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

scientific article

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

scientific article

Humoral deficiency in three paediatric patients with genetic diseases

scientific article published on 29 February 2016

IRF8 mutations and human dendritic-cell immunodeficiency

scientific article

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

scientific article published on 21 September 2017

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

scientific article

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

scientific article

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

scientific article published on 5 April 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

scientific article published on 4 March 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.

scientific article published on 15 May 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

scientific article published on 21 December 2019

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

scientific article

Neonatal pulmonary tuberculosis evolving to a destroyed lung.

scientific article

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

scientific article published on 10 March 2015

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

scientific article published on 10 May 2014

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

scientific article published on 04 May 2018

Picture of the Month—Quiz Case

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

scientific article published on 02 August 2016

Pyogenic bacterial infections in humans with MyD88 deficiency

scientific article

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

scientific article

Reply to correspondence letter by M. Korppi

scientific article published in November 2012

Safety and predictors of adverse events during oral immunotherapy for milk allergy: severity of reaction at oral challenge, specific IgE and prick test ⬇️

scientific article published on 01 January 2013

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

scientific article

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

scientific article published on 25 July 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

scientific article

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.

scientific article published on 12 March 2018

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

scientific article

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

scientific article

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

scientific article published on 23 September 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

scientific article published on 05 September 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]

scientific article published on 07 November 2019

List of works by 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

Safety and predictors of adverse events during oral immunotherapy for milk allergy: severity of reaction at oral challenge, specific IgE and prick test ⬇️

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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