| Artículo | 2025 |
Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): An externally controlled study
|
CLINICAL AND EXPERIMENTAL IMMUNOLOGY |
| Artículo | 2025 |
Could Intravenous Immunoglobulin Be an Alternative Therapy, for Treating Infant Botulism in Areas Where Human Botulism Immunoglobulin Is Not Easily Available?: Our Experience in Andalusia, Spain
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Artículo | 2025 |
Development of an Expert-Based Scoring System for Early Identification of Patients with Inborn Errors of Immunity in Primary Care Settings – the PIDCAP Project
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Artículo | 2025 |
Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study
|
International Journal of Neonatal Screening |
| Artículo | 2024 |
A Phase 3 randomized trial of mavorixafor, CXCR4 antagonist, in WHIM syndrome.
|
BLOOD |
| Artículo | 2024 |
“Deficiency in ELF4, X-Linked”: a Monogenic Disease Entity Resembling Behçet’s Syndrome and Inflammatory Bowel Disease
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Artículo | 2024 |
A deep intronic splice-altering AIRE variant causes APECED syndrome through antisense oligonucleotide-targetable pseudoexon inclusion
|
Science Translational Medicine |
| Artículo | 2024 |
Autoimmune lymphoproliferative syndrome (ALPS) due to a novel dominant negative germline mutation in the FAS gene
|
Immunologic Research |
| Artículo | 2024 |
Autoinflammatory and immunodeficiency due to loss of function mutation in ELF4.
|
Biosaia |
| Artículo | 2024 |
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study
|
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| Artículo | 2024 |
Long-term outcomes of an educational paediatric antimicrobial stewardship programme: A quality improvement study
|
ARCHIVES OF DISEASE IN CHILDHOOD |
| Artículo | 2024 |
Non-apoptotic FAS signaling controls mTOR activation and extrafollicular maturation in human B cells
|
Science immunology |
| Resumen congreso | 2024 |
Off-label treatment with the selective PI3Kδ inhibitor leniolisib in 2 pediatric patients with activated phosphoinositide 3-kinase delta syndrome 2 (APDS2)
|
CLINICAL IMMUNOLOGY |
| Revisión | 2024 |
STAT1 and STAT3 gain of function: clinically heterogenous immune regulatory disorders
|
CURRENT OPINION IN ALLERGY AND CLINICAL IMMUNOLOGY |
| Artículo | 2024 |
The Role of Interferon-gamma in Autoimmune Polyendocrine Syndrome Type 1
|
NEW ENGLAND JOURNAL OF MEDICINE |
| Artículo | 2023 |
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity
|
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| Artículo | 2023 |
Inborn errors of immunity causing pediatric susceptibility to fungal diseases
|
JOURNAL OF FUNGI |
| Artículo | 2023 |
Monogenic early-onset lymphoproliferation and autoimmunity: natural history of STAT3 gain-of-function syndrome
|
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| Letter | 2023 |
STAT1 gain-of-function and hidradenitis suppurativa successfully managed with baricitinib
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Revisión | 2022 |
Eosinophilia associated with immune deficiency
|
Journal of Allergy and Clinical Immunology: In Practice |
| Artículo | 2022 |
Ex vivo effect of JAK inhibition on JAK-STAT1 pathway hyperactivation in patients with dominant-negative STAT3 mutations
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Artículo | 2022 |
Examining the immune signatures of SARS-CoV-2 infection in pregnancy and the impact on neurodevelopment: protocol of the SIGNATURE longitudinal study
|
FRONTIERS IN PEDIATRICS |
| Artículo | 2022 |
Impact of JAK inhibitors in pediatric patients with STAT1 Gain of Function (GOF) mutations—10 children and review of the literature
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Póster | 2022 |
Newborn screening to the early detection of patients with spinal muscular atrophy and immunodeficiencies
|
Biosaia |
| Artículo | 2022 |
SARS-CoV-2 seroprevalence study in pediatric patients and health care workers using multiplex antibody immunoassays
|
Viruses |
| Artículo | 2022 |
Severe acute respiratory syndrome coronavirus 2 vaccination in children with a history of multisystem inflammatory syndrome in children: an international survey
|
JOURNAL OF PEDIATRICS |
| Artículo | 2021 |
Aberrant type 1 immunity drives susceptibility to mucosal fungal infections
|
SCIENCE |
| Artículo | 2021 |
Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant
|
Pediatric Allergy and Immunology |
| Artículo | 2021 |
Colchicine treatment in children with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: A multicenter study in Spain
|
EUROPEAN JOURNAL OF RHEUMATOLOGY |
| Capítulo | 2021 |
Defects in intrinsic and innate immunity
|
Inborn Errors of Immunity: A Practical Guide |
| Artículo | 2021 |
Diagnostic Accuracy of the Panbio Severe Acute Respiratory Syndrome Coronavirus 2 Antigen Rapid Test Compared with Reverse-Transcriptase Polymerase Chain Reaction Testing of Nasopharyngeal Samples in the Pediatric Population
|
JOURNAL OF PEDIATRICS |
| Artículo | 2021 |
Distinct laboratory and clinical features of secondary hemophagocytic lymphohistiocytosis in pediatric visceral leishmaniasis: a retrospective analysis of 127 children in Andalusia, Spain (2004-2019)
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Resumen congreso | 2021 |
DOCK8 deficiency in an adult patient with suspected diagnosis of hyper-IgE syndrome
|
European Journal Of Immunology |
| Resumen congreso | 2021 |
Double Trouble: a patient with STAT1 GOF and Down Syndrome
|
Biosaia |
| Artículo | 2021 |
High Rates of SARS-CoV-2 Family Transmission in Children of Healthcare Workers During the First Pandemic Wave in Madrid, Spain Serologic Study
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Artículo | 2021 |
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
|
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| Editorial | 2021 |
Multi-inflammatory syndrome in children related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in Spain
|
CLINICAL INFECTIOUS DISEASES |
| Artículo | 2021 |
Prevalence of thrombotic complications in children with SARS-CoV-2
|
ARCHIVES OF DISEASE IN CHILDHOOD |
| Artículo | 2021 |
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management
|
FRONTIERS IN IMMUNOLOGY |
| Artículo | 2021 |
Response to comments on “Aberrant type 1 immunity drives susceptibility to mucosal fungal infections”
|
SCIENCE |
| Letter | 2021 |
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Artículo | 2021 |
STAT Immunodeficiency Disorders and Fungal Infection Susceptibility
|
CURRENT FUNGAL INFECTION REPORTS |
| Revisión | 2020 |
Clinical, Immunological, and Genetic Features in Patients with Activated PI3K delta Syndrome (APDS): a Systematic Review
|
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY |
| Revisión | 2020 |
Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management
|
JOURNAL OF INVESTIGATIONAL ALLERGOLOGY & CLINICAL IMMUNOLOGY |
| Artículo | 2020 |
Comprehensive assessment of respiratory complications in patients with common variable immunodeficiency
|
ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY |
| Resumen congreso | 2020 |
CONTRIBUTION OF DEFECTIVE NON-APOPTOTIC FAS SIGNALING TO IMMUNE DYSREGULATION IN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS)
|
ANNALS OF THE RHEUMATIC DISEASES |
| Artículo | 2020 |
Etiology and Outcome of Candidemia in Neonates and Children in Europe: An 11-year Multinational Retrospective Study
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Artículo | 2020 |
Evaluation of respiratory complications in patients with X-linked and autosomal recessive agammaglobulinemia
|
Pediatric Allergy and Immunology |
| Artículo | 2020 |
Executive summary of the consensus document on the diagnosis and management of patients with primary immunodeficiencies
|
Journal of Allergy and Clinical Immunology: In Practice |
| Artículo | 2020 |
Executive summary of the consensus document on the diagnosis and management of patients with primary immunodeficiencies
|
Enfermedades infecciosas y microbiología clínica |
| Revisión | 2020 |
Primary Immunodeficiency Diseases and Bacillus Calmette-Guerin (BCG)-Vaccine-Derived Complications: A Systematic Review
|
Journal of Allergy and Clinical Immunology: In Practice |
| Póster | 2020 |
Validation of STAT1 variants found in patients with primary immunodeficiencies and evaluation of the effect of JAK inhibition using an in vitro model.
|
Biosaia |
| Resumen congreso | 2019 |
Fas non-apoptotic signaling contributes to positive B cell selection by modulating the mTOR signaling pathway
|
European Journal Of Immunology |
| Artículo | 2019 |
Primary and Secondary Immunodeficiency Diseases in Oncohaematology: Warning Signs, Diagnosis, and Management
|
FRONTIERS IN IMMUNOLOGY |
| Artículo | 2019 |
Revisión de estrategias de profilaxis antifúngica en niños inmunodeprimidos
|
Revista Española de Quimioterapia |
| Artículo | 2019 |
Secondary C1q Deficiency in Activated PI3K delta Syndrome Type 2
|
FRONTIERS IN IMMUNOLOGY |
| Artículo | 2019 |
STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation
|
FRONTIERS IN IMMUNOLOGY |
| Revisión | 2019 |
Typhoid fever causing haemophagocytic lymphohistiocytosis in a non-endemic country - first case report and review of the current literature
|
Enfermedades infecciosas y microbiología clínica |
| Artículo | 2018 |
CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome
|
IMMUNOLOGY AND CELL BIOLOGY |
| Artículo | 2018 |
Disease evolution and response to rapamycin in Activated Phosphoinositide 3-Kinase delta syndrome: the european society for immunodeficiencies-Activated Phosphoinositide 3-Kinase d syndrome registry
|
FRONTIERS IN IMMUNOLOGY |
| Artículo | 2018 |
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations
|
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| Artículo | 2018 |
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects
|
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY |
| Revisión | 2018 |
STAT1 and STAT3 mutations: important lessons for clinical immunologists
|
EXPERT REVIEW OF CLINICAL IMMUNOLOGY |
| Artículo | 2018 |
Study of an extended family with CTLA-4 deficiency suggests a CD28/CTLA-4 independent mechanism responsible for differences in disease manifestations and severity
|
CLINICAL IMMUNOLOGY |
| Artículo | 2017 |
Identifying functional defects in patients with immune dysregulation due to LRBA and CTLA-4 mutations
|
BLOOD |
| Artículo | 2017 |
Long-Term Impact of an Educational Antimicrobial Stewardship Program on Hospital-Acquired Candidemia and Multidrug-Resistant Bloodstream Infections: A Quasi-Experimental Study of Interrupted Time-Series Analysis
|
CLINICAL INFECTIOUS DISEASES |
| Artículo | 2017 |
Newborn screening for primary T- and B-cell immune deficiencies — A prospective study in Andalucía
|
International Journal of Neonatal Screening |
| Revisión | 2016 |
Activated PI3K delta syndrome type 2: Two patients, a novel mutation, and review of the literature
|
Pediatric Allergy and Immunology |
| Resumen congreso | 2016 |
BROAD CLINICAL PHENOTYPE IN PEDIATRIC PATIENTS WITH HETEROZYGOUS STAT1 MUTATIONS
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Letter | 2016 |
Congenital Tuberculosis Due to Confirmed Mycobacterium caprae
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Corrección | 2016 |
Congenital tuberculosis due to confirmed Mycobacterium caprae (vol 35, pg 1278, 2016)
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Corrección | 2016 |
Diagnostic and therapeutic challenges in a child with complete Interferon-gamma Receptor 1 deficiency (vol 62, pg 2036, 2015)
|
PEDIATRIC BLOOD & CANCER |
| Corrección | 2016 |
Erratum: Congenital tuberculosis due to confirmed Mycobacterium caprae (Pediatric Infectious Disease Journal (2016) 35 (1278-1279) DOI: 10.1097/INF.0000000000001294)
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Letter | 2016 |
First Documented Case of Influenza A (H3N2 Subtype) Infection in a Patient With Complete Interferon Gamma Receptor 1 Deficiency A Call for Systemic Vaccination Strategies
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Artículo | 2016 |
Off-label use of rilpivirine in combination with emtricitabine and tenofovir in HIV-1-infected pediatric patients A multicenter study
|
MEDICINE |
| Artículo | 2016 |
Prospective neonatal screening for severe T- and B-lymphocyte deficiencies in Seville
|
Pediatric Allergy and Immunology |
| Resumen congreso | 2016 |
STAT3 GOF MUTATION MIMICKING AUTOIMMUNE LYMPHOPROLIFERATION SYNDROME (ALPS)
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Resumen congreso | 2016 |
STREPTOCOCCUS PNEUMONIA ADENITIS AND HYPER IgM SYNDROME IN A CHILD WITH PIK3R1 MUTATION
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Artículo | 2015 |
A 16-month old girl with swelling in the face
|
Pediatría Integral |
| Artículo | 2015 |
Diagnostic and Therapeutic Challenges in a Child With Complete Interferon-gamma Receptor 1 Deficiency
|
PEDIATRIC BLOOD & CANCER |
| Artículo | 2015 |
Recurrent Infective Endocarditis due to Aggregatibacter aphrophilus and Staphylococcus lugdunensis
|
KLINISCHE PADIATRIE |
| Artículo | 2014 |
Primer estudio piloto en España sobre el cribado neonatal de las inmunodeficiencias primariasTRECS y KRECS identifican linfopenias T y B graves
|
ANALES DE PEDIATRIA |
| Artículo | 2014 |
Catheter-related Mycobacterium fortuitum Bloodstream Infection: Rapid Identification Using MALDI-TOF Mass Spectrometry
|
KLINISCHE PADIATRIE |
| Artículo | 2014 |
Chryseobacterium indologenes central nervous system infection in infancy: An emergent pathogen?
|
INFECTION |
| Resumen congreso | 2014 |
Keeping Up with Progress in the Field of Immunology and Primary Immunodeficiencies. Results of a Survey Among ESID Members
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Artículo | 2014 |
Meningoencephalitis Due to Adenovirus in a Healthy Infant Mimicking Severe Bacterial Sepsis
|
PEDIATRIC INFECTIOUS DISEASE JOURNAL |
| Resumen congreso | 2014 |
Screening of Neonatal Spanish Dried Blood Spots Using TREC-KREC Screening Assay: A Prospective Pilot Study
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Artículo | 2013 |
Association of Human Beta-Defensin-2 Serum Levels and Sepsis in Preterm Neonates
|
PEDIATRIC CRITICAL CARE MEDICINE |
| Letter | 2013 |
Otogenic variant of Lemierre syndrome
|
ANALES DE PEDIATRIA |
| Resumen congreso | 2012 |
ASSOCIATION OF HUMAN BETA DEFENSIN 2 (HBD2) SERUM LEVELS AND SUSCEPTIBILITY TO INFECTIONS IN PRETERM NEONATES - AN OBSERVATIONAL STUDY
|
JOURNAL OF CLINICAL IMMUNOLOGY |
| Editorial | 2012 |
Combined Use of Recombinant Activated Factor VII and ECMO in Severe Postoperative Bleeding after Cardiac Surgery in a Newborn: Death due to Ventricular Dysfunction
|
KLINISCHE PADIATRIE |
| Artículo | 2010 |
Manejo diagnóstico y terapéutico de un niño afecto de una leishmaniasis visceral refractaria al tratamiento con Anfotericina B liposomal
|
Vox Paediatrica |
