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1,017 articles

articles

Original Research

Published on 10 Aug 2021

Primary Immune Regulatory Disorders With an Autoimmune Lymphoproliferative Syndrome-Like Phenotype: Immunologic Evaluation, Early Diagnosis and Management

in Primary Immunodeficiencies

  • Marta LĂłpez-Nevado
  • Luis I. González-Granado
  • Raquel Ruiz-GarcĂ­a
  • Daniel Pleguezuelo
  • Oscar Cabrera-Marante
  • Nerea SalmĂłn
  • Pilar Blanco-Lobo
  • Nerea DomĂ­nguez-Pinilla
  • Rebeca RodrĂ­guez-Pena
  • Elena Sebastián
Frontiers in Immunology
doi 10.3389/fimmu.2021.671755
  • 28,817 views
  • 74 citations

Original Research

Published on 17 Jun 2021

A Novel Non-Coding Variant in DCLRE1C Results in Deregulated Splicing and Induces SCID Through the Generation of a Truncated ARTEMIS Protein That Fails to Support V(D)J Recombination and DNA Damage Repair

in Primary Immunodeficiencies

  • Steven Strubbe
  • Marieke De Bruyne
  • Ulrich Pannicke
  • Elien Beyls
  • Bart Vandekerckhove
  • Georges Leclercq
  • Elfride De Baere
  • Victoria Bordon
  • Anne Vral
  • Klaus Schwarz
Frontiers in Immunology
doi 10.3389/fimmu.2021.674226
  • 7,543 views
  • 7 citations