List of works - Roger Colobran

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

AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review

scientific article published on 4 June 2016

Analysis of the PD-1/PD-L1 axis in human autoimmune thyroid disease: Insights into pathogenesis and clues to immunotherapy associated thyroid autoimmunity

scientific article published on 08 June 2019

Analysis of the cumulative changes in Graves' disease thyroid glands points to IFN signature, plasmacytoid DCs and alternatively activated macrophages as chronicity determining factors.

scientific article published on 26 February 2011

Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.

scientific article published on 3 June 2011

Autoimmune Predisposition in Down Syndrome May Result from a Partial Central Tolerance Failure due to Insufficient Intrathymic Expression ofAIREand Peripheral Antigens

scientific article published on 12 September 2014

CCL4L Polymorphisms and CCL4/CCL4L Serum Levels Are Associated with Psoriasis Severity

scientific article published in September 2011

CD26/DPPIV inhibition alters the expression of immune response-related genes in the thymi of NOD mice.

scientific article published on 18 February 2016

Central T cell tolerance: Identification of tissue-restricted autoantigens in the thymus HLA-DR peptidome.

scientific article

Central Tolerance Mechanisms to TSHR in Graves' Disease: Contributions to Understand the Genetic Association

scientific article published on 05 November 2018

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

scientific article

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

Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease.

scientific article published on 19 August 2010

Copy number variation in the CCL4L gene is associated with susceptibility to acute rejection in lung transplantation

article

Development of a new HLA-DRB real-time PCR typing method.

scientific article published in January 2005

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

Epigenome-wide association study of COVID-19 severity with respiratory failure ⬇️

scientific article published on 15 April 2021

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

scientific article published on 14 May 2018

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

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

scientific article published on 22 October 2019

Genetics of Graves' Disease: Special Focus on the Role of TSHR Gene.

scientific article published on 11 September 2015

Graves' disease TSHR-stimulating antibodies (TSAbs) induce the activation of immature thymocytes: a clue to the riddle of TSAbs generation?

scientific article published on 23 March 2015

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

scientific article published on 4 December 2013

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain)

scientific article published on 30 October 2019

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

scientific article published on 24 September 2020

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

scientific article published on 16 October 2018

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

scientific article published on 01 May 2018

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

scientific article published on 21 December 2019

Multiple products derived from two CCL4 loci: high incidence of a new polymorphism in HIV+ patients

scientific article published on 01 May 2005

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

scientific article

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection

scientific article published on 10 May 2014

Population structure in copy number variation and SNPs in the CCL4L chemokine gene

scientific article published on 27 March 2008

Regulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms

scientific article published on 18 July 2019

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

The chemokine network. I. How the genomic organization of chemokines contains clues for deciphering their functional complexity. ⬇️

scientific article published on May 2007

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

scientific article published on 16 May 2022

Type 1 Diabetes Prevention in NOD Mice by Targeting DPPIV/CD26 Is Associated with Changes in CD8⁺T Effector Memory Subset

scientific article published on 10 November 2015

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics

scientific article published on 21 May 2019

List of works by Roger Colobran

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

AIRE genetic variants and predisposition to polygenic autoimmune disease: The case of Graves' disease and a systematic literature review

Analysis of the PD-1/PD-L1 axis in human autoimmune thyroid disease: Insights into pathogenesis and clues to immunotherapy associated thyroid autoimmunity

Analysis of the cumulative changes in Graves' disease thyroid glands points to IFN signature, plasmacytoid DCs and alternatively activated macrophages as chronicity determining factors.

Association of an SNP with intrathymic transcription of TSHR and Graves' disease: a role for defective thymic tolerance.

Autoimmune Predisposition in Down Syndrome May Result from a Partial Central Tolerance Failure due to Insufficient Intrathymic Expression ofAIREand Peripheral Antigens

CCL4L Polymorphisms and CCL4/CCL4L Serum Levels Are Associated with Psoriasis Severity

CD26/DPPIV inhibition alters the expression of immune response-related genes in the thymi of NOD mice.

Central T cell tolerance: Identification of tissue-restricted autoantigens in the thymus HLA-DR peptidome.

Central Tolerance Mechanisms to TSHR in Graves' Disease: Contributions to Understand the Genetic Association

Clinical and structural impact of mutations affecting the residue Phe367 of FOXP3 in patients with IPEX syndrome.

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.

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

Copy number variation in chemokine superfamily: the complex scene of CCL3L-CCL4L genes in health and disease.

Copy number variation in the CCL4L gene is associated with susceptibility to acute rejection in lung transplantation

Development of a new HLA-DRB real-time PCR typing method.

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

Epigenome-wide association study of COVID-19 severity with respiratory failure ⬇️

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

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

Extended immunophenotyping reference values in a healthy pediatric population

First Universal Newborn Screening Program for Severe Combined Immunodeficiency in Europe. Two-Years' Experience in Catalonia (Spain)

Genetics of Graves' Disease: Special Focus on the Role of TSHR Gene.

Graves' disease TSHR-stimulating antibodies (TSAbs) induce the activation of immature thymocytes: a clue to the riddle of TSAbs generation?

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

Identification of 22q11.2 deletion syndrome via newborn screening for severe combined immunodeficiency. Two years' experience in Catalonia (Spain)

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

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

Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency

Molecular analysis of the novel L243R mutation in STXBP2 reveals impairment of degranulation activity

Multiple products derived from two CCL4 loci: high incidence of a new polymorphism in HIV+ patients

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

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection

Population structure in copy number variation and SNPs in the CCL4L chemokine gene

Regulation of TSHR Expression in the Thyroid and Thymus May Contribute to TSHR Tolerance Failure in Graves' Disease Patients via Two Distinct Mechanisms

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

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

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

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

The chemokine network. I. How the genomic organization of chemokines contains clues for deciphering their functional complexity. ⬇️

The risk of COVID-19 death is much greater and age dependent with type I IFN autoantibodies

Type 1 Diabetes Prevention in NOD Mice by Targeting DPPIV/CD26 Is Associated with Changes in CD8⁺T Effector Memory Subset

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics