Pilar Lobo-Blanco
Sevilla, AN, Spain
Last Updated: 09/26/2026
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Found 10 publications
A de novo dominant-negative PSMB8 mutation causes severe CANDLE/PRAAS due to arrested proteasome biogenesis.
Journal: Annals of the rheumatic diseases
Published: July 24, 2025
Clinical and Immunological Impact of JAK Inhibition in Concurrent Down Syndrome and STAT1 Gain of Function.
Journal: Journal of clinical immunology
Published: July 03, 2025
Neonatal Screening for Spinal Muscular Atrophy and Severe T- and B-Cell Lymphopenias in Andalusia: A Prospective Study.
Journal: International journal of neonatal screening
Published: October 15, 2024
STAT1 Gain-of-Function and Hidradenitis Suppurativa Successfully Managed with Baricitinib.
Journal: Journal of clinical immunology
Published: December 01, 2022
Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations-10 Children and Review of the Literature.
Journal: Journal of clinical immunology
Published: January 07, 2022
Biallelic TRAF3IP2 variants causing chronic mucocutaneous candidiasis in a child harboring a STAT1 variant.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: May 17, 2021
SARS-CoV-2 infection in a pediatrics STAT1 GOF patient under Ruxolitinib therapy-a matter of balance?
Journal: Journal of clinical immunology
Published: April 16, 2021
Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management.
Journal: Frontiers in immunology
Published: February 24, 2021
Clinical validation of a real-time polymerase chain reaction assay for rapid detection of Acinetobacter baumannii colonization.
Journal: The Journal of hospital infection
Published: January 22, 2016
Showing 1-10 of 10
Last Updated: 09/26/2026