about
Complement factor 5 (C5) p.A252T mutation is prevalent in, but not restricted to, sub-Saharan Africa: implications for the susceptibility to meningococcal disease.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.Novel Mutations Causing C5 Deficiency in Three North-African Families.Early Versus Late Diagnosis of Complement Factor I Deficiency: Clinical Consequences Illustrated in Two Families with Novel Homozygous CFI Mutations.TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency DiseasesLRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental IsodisomyExtended immunophenotyping reference values in a healthy pediatric populationTh1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestationsExpanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected FindingsSerum IL-10 Levels and Its Relationship with Parasitemia in Chronic Chagas Disease PatientsSerum protein electrophoresis and complement deficiencies: a veteran but very versatile test in clinical laboratoriesThe IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype
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P50
description
hulumtuese
@sq
researcher
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wetenschapper
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հետազոտող
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name
Clara Franco-Jarava
@ast
Clara Franco-Jarava
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Clara Franco-Jarava
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Clara Franco-Jarava
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Clara Franco-Jarava
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type
label
Clara Franco-Jarava
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Clara Franco-Jarava
@en
Clara Franco-Jarava
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Clara Franco-Jarava
@nl
Clara Franco-Jarava
@sl
prefLabel
Clara Franco-Jarava
@ast
Clara Franco-Jarava
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Clara Franco-Jarava
@es
Clara Franco-Jarava
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Clara Franco-Jarava
@sl
P106
P21
P31
P496
0000-0002-9788-189X