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A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema

article

A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.

artículo científico publicado en 2000

Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer.

artículo científico publicado en 2018

Alteration of IgG4 levels in cerebrospinal fluid in IgG4-related disease

artículo científico publicado en 2015

CCR5 genotype and HIV-1 infection in perinatally-exposed infants

scientific article published on 01 January 1999

CCR5 genotype and human immunodeficiency virus type 1 infection in perinatally exposed infants.

artículo científico publicado en 1999

Chronic granulomatous disease in pediatric patients: 25 years of experience.

artículo científico publicado en 2007

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.

artículo científico publicado en 2016

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

artículo científico publicado en 2003

Common variable immunodeficiency: association between memory B cells and lung diseases.

artículo científico publicado en 2007

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

artículo científico publicado en 2017

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

artículo científico publicado en 2017

Extended immunophenotyping reference values in a healthy pediatric population

artículo científico publicado en 2018

Familial CD8 deficiency due to a mutation in the CD8 alpha gene.

artículo científico publicado en 2001

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

artículo científico publicado en 2013

Kinase mutant Btk results in atypical X-linked agammaglobulinaemia phenotype

scientific article published on 01 May 2000

Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Pre-B Acute Lymphoblastic Leukemia During a Complete Remission in T-Acute Lymphoblastic Leukemia

artículo científico publicado en 1991

Role of TNFRSF13B variants in patients with common variable immunodeficiency

scientific article published on 01 September 2009

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

artículo científico publicado en 2019

The EUROclass trial: defining subgroups in common variable immunodeficiency.

artículo científico publicado en 2007

Vertical HIV-1 transmission correlates with a high maternal viral load at delivery

artículo científico publicado en 1997

Very late presentation of vertically transmitted HIV-1 infection

scientific article published on 01 June 1996

Visceral leishmaniasis associated hemophagocytic syndrome in patients with chronic granulomatous disease.

artículo científico publicado en 2009

[Directory of diagnostic tests in primary immunodeficiencies]

artículo científico publicado en 2005

[Invasive disease due to Neisseria meningitidis serogroup 29E and C5 deficiency].

artículo científico publicado en 2013

[Is familial screening useful in selective immunoglobulin A deficiency?]

scientific article published on 30 May 2015

Lista de obras de

A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema

A novel CD18 genomic deletion in a patient with severe leucocyte adhesion deficiency: a possible CD2/lymphocyte function-associated antigen-1 functional association in humans.

Age-specific pediatric reference ranges for immunoglobulins and complement proteins on the Optilite™ automated turbidimetric analyzer.

Alteration of IgG4 levels in cerebrospinal fluid in IgG4-related disease

CCR5 genotype and HIV-1 infection in perinatally-exposed infants

CCR5 genotype and human immunodeficiency virus type 1 infection in perinatally exposed infants.

Chronic granulomatous disease in pediatric patients: 25 years of experience.

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.

Clinical tuberculosis in 2 of 3 siblings with interleukin-12 receptor beta1 deficiency.

Common variable immunodeficiency: association between memory B cells and lung diseases.

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

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

Extended immunophenotyping reference values in a healthy pediatric population

Familial CD8 deficiency due to a mutation in the CD8 alpha gene.

Identification and characterization of a novel splice site mutation in the SERPING1 gene in a family with hereditary angioedema.

Kinase mutant Btk results in atypical X-linked agammaglobulinaemia phenotype

Laboratory guidelines for the diagnosis of patients with cryoglobulinaemic syndrome

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

Pre-B Acute Lymphoblastic Leukemia During a Complete Remission in T-Acute Lymphoblastic Leukemia

Role of TNFRSF13B variants in patients with common variable immunodeficiency

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

The EUROclass trial: defining subgroups in common variable immunodeficiency.

Vertical HIV-1 transmission correlates with a high maternal viral load at delivery

Very late presentation of vertically transmitted HIV-1 infection

Visceral leishmaniasis associated hemophagocytic syndrome in patients with chronic granulomatous disease.

[Directory of diagnostic tests in primary immunodeficiencies]

[Invasive disease due to Neisseria meningitidis serogroup 29E and C5 deficiency].

[Is familial screening useful in selective immunoglobulin A deficiency?]