M. García-Prat

发表

Evaluation of cytokine profile and HLA association in benznidazole related cutaneous reactions in patients with Chagas disease.

I. Molina, F. Salvador, M. Martínez-Gallo, 2015, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

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

T. Marquès-Bonet, M. Juan, J. Yagüe, 2018, Front. Immunol..

Biological brain age prediction using machine learning on structural neuroimaging data: Multi-cohort validation against biomarkers of Alzheimer’s disease and neurodegeneration stratified by sex

K. Blennow, J. Molinuevo, F. Barkhof, 2022, medRxiv.

Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations

P. Soler-Palacín, X. de la Cruz, X. Solanich, 2017, Journal of Clinical Immunology.

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

P. Soler-Palacín, I. Valenzuela, R. Colobran, 2022, Frontiers in Immunology.

CD57 identifies T cells with functional senescence before terminal differentiation and relative telomere shortening in patients with activated PI3 kinase delta syndrome

K. Schwarz, T. Brümmendorf, P. Soler-Palacín, 2018, Immunology and cell biology.

Increased proportions of γδ T lymphocytes in atypical SCID associate with disease manifestations.

L. Notarangelo, C. Picard, P. Soler-Palacín, 2019, Clinical immunology.

Extended immunophenotyping reference values in a healthy pediatric population

P. Soler-Palacín, Daniel Álvarez-Sierra, R. Colobran, 2018, Cytometry. Part B, Clinical cytometry.

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

P. Soler-Palacín, V. Rodríguez-Sureda, R. Colobran, 2018, Clinical immunology.

Flow Cytometry Applied to the Diagnosis of Primary Immunodeficiencies

M. Martínez-Gallo, M. García-Prat, 2020, Innovations in Cell Research and Therapy.

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

P. Gregersen, J. Casanova, L. Rowen, 2022, Proceedings of the National Academy of Sciences of the United States of America.

The risk of COVID-19 death is much greater and age-dependent with type I IFN autoantibodies

Mark S. Anderson, J. Casanova, L. Rowen, 2022, Research square.

Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations

X. Estivill, M. Juan, J. Yagüe, 2020, Journal of Clinical Immunology.

Case Report: X-Linked SASH3 Deficiency Presenting as a Common Variable Immunodeficiency

M. Labrador-Horrillo, R. Colobran, M. Martínez-Gallo, 2022, Frontiers in Immunology.

Detection and evolutionary dynamics of somatic FAS variants in autoimmune lymphoproliferative syndrome: Diagnostic implications

P. Soler-Palacín, R. Colobran, M. Martínez-Gallo, 2022, Frontiers in Immunology.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

A. Fischer, C. Picard, P. Soler-Palacín, 2018, Front. Immunol..

Initial presenting manifestations in 16,486 patients with Inborn Errors of Immunity include infections and non-infectious manifestations.

Nurit Assia Batzir, K. Schwarz, D. Foell, 2021, The Journal of allergy and clinical immunology.

International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome

A. Schulz, L. Notarangelo, A. Gennery, 2021, The Journal of allergy and clinical immunology.

Autoantibodies neutralizing type I IFNs are present in ~4% of uninfected individuals over 70 years old and account for ~20% of COVID-19 deaths

Mark S. Anderson, P. Gregersen, R. Nussbaum, 2021, Science Immunology.

LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

P. Soler-Palacín, D. Bezdan, S. Ossowski, 2018, Front. Immunol..

Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis

Michael M. Henry, S. Holland, E. Haddad, 2020, Journal of Clinical Immunology.

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

P. Soler-Palacín, X. Solanich, M. Fernández-Cancio, 2019, Front. Immunol..

The IL‐2RG R328X nonsense mutation allows partial STAT‐5 phosphorylation and defines a critical region involved in the leaky‐SCID phenotype

P. Soler-Palacín, S. Ossowski, O. Drechsel, 2019, Clinical and experimental immunology.

Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score.

A. Gennery, A. Worth, L. Hammarström, 2019, The Journal of allergy and clinical immunology.

P. Soler-Palacín, A. Martín-Nalda, Jacques G. Rivière, 2020, Journal of Clinical Immunology.

A-331 Serum concentrations of IgG subclass in the China adult population : relationship with age , gender , and atopy

S. Harding, Robledo, M. Martínez-Gallo, 2018 .

Age‐specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer

P. Soler-Palacín, M. Martínez-Gallo, A. Martín-Nalda, 2018, Journal of clinical laboratory analysis.

Seletalisib for Activated PI3Kδ Syndromes: Open-Label Phase 1b and Extension Studies

P. Soler-Palacín, C. Cancrini, S. Ehl, 2020, The Journal of Immunology.

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

P. Soler-Palacín, A. Ribes, R. Colobran, 2019, Front. Immunol..

Newborn Screening for SCID. Experience in Spain (Catalonia)

P. Soler-Palacín, A. Ribes, R. Colobran, 2021, International journal of neonatal screening.

Early Diagnosis and Treatment of Purine Nucleoside Phosphorylase (PNP) Deficiency through TREC-Based Newborn Screening

P. Soler-Palacín, G. la Marca, R. Colobran, 2021, International journal of neonatal screening.

Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

P. Soler-Palacín, R. Colobran, M. Martínez-Gallo, 2023, Journal of clinical immunology.

Activated Phosphoinositide 3-Kinase δ Syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.

A. Schulz, V. Lougaris, A. Plebani, 2023, Journal of Allergy and Clinical Immunology.

Higher COVID-19 pneumonia risk associated with anti-IFN-α than with anti-IFN-ω auto-Abs in children

V. Tillmann, P. Soler-Palacín, T. Ozcelik, 2024, The Journal of experimental medicine.

LRBA Deﬁciency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

P. Soler-Palacín, D. Bezdan, Mattia Bosio, 2022 .

Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.

P. Soler-Palacín, R. Colobran, M. Martínez-Gallo, 2024, Journal of clinical immunology.