Maria Morato-Garcia
La Paz, MD, Spain
Last Updated: 09/26/2026
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Found 20 publications
Novel NFKBIA variant causing autosomal ectodermal dysplasia with immunodeficiency.
Journal: Journal of the European Academy of Dermatology and Venereology : JEADV
Published: October 14, 2024
Molecular assessment of splicing variants in a cohort of patients with inborn errors of immunity: methodological approach and interpretation remarks.
Journal: Frontiers in immunology
Published: September 20, 2024
Novel hypomorphic CYBB variant causing chronic granulomatous disease with incomplete penetrance.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: July 25, 2024
Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.
Journal: Frontiers in immunology
Published: November 10, 2022
Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.
Journal: Rheumatology (Oxford, England)
Published: August 23, 2021
Variants in CASP10, a diagnostic challenge: Single center experience and review of the literature.
Journal: Clinical immunology (Orlando, Fla.)
Published: May 14, 2021
Colitis expands the phenotype of PAAND patients: new case report and review of the literature.
Journal: Rheumatology (Oxford, England)
Published: November 26, 2020
Molecular and histologic insights on early onset cardiomyopathy in Danon disease females.
Journal: Clinical genetics
Published: September 20, 2020
A mutation in the promoter region of BTK causes atypical XLA.
Journal: Heliyon
Published: June 25, 2020
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Journal: Enfermedades infecciosas y microbiologia clinica (English ed.)
Published: May 31, 2020
Executive Summary of the Consensus Document on the Diagnosis and Management of Patients with Primary Immunodeficiencies.
Journal: The journal of allergy and clinical immunology. In practice
Published: May 04, 2020
Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions.
Journal: Cell reports
Published: February 14, 2020
Last Updated: 09/26/2026