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List of works by Clara Franco-Jarava

Clinical laboratory standard capillary protein electrophoresis alerted of a low C3 state and lead to the identification of a Factor I deficiency due to a novel homozygous mutation.

scientific article published on 14 April 2016

Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease

scientific article

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

scientific article published on 23 September 2017

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

scientific article published on 01 October 2019

Extended immunophenotyping reference values in a healthy pediatric population

scientific article published on 17 October 2018

Immunological and genetic kinetics from diagnosis to clinical progression in chronic lymphocytic leukemia

scientific article published on 20 May 2021

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

scientific article published on 16 October 2018

Novel Mutations Causing C5 Deficiency in Three North-African Families.

scientific article

Serum IL-10 Levels and Its Relationship with Parasitemia in Chronic Chagas Disease Patients

scientific article published on 01 January 2020

Serum protein electrophoresis and complement deficiencies: a veteran but very versatile test in clinical laboratories

scientific article published on 01 July 2019

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

scientific article

Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations

scientific article published on 29 July 2018

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

scientific article published on 19 January 2020

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

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