Lista de obras - Mikko Seppänen - Dominio Público Uruguay

205-P Immunogenetics of complement C4 deficiencies

scholarly article by Riitta Paakkanen et al published October 2011 in Human Immunology

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency

artículo científico publicado en 2019

ADA2 deficiency: clonal lymphoproliferation in a subset of patients

artículo científico publicado en 2018

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

artículo científico publicado en 2014

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia

artículo científico publicado en 2017

Association of Chlamydia pneumoniae infection with HLA-B*35 in patients with coronary artery disease

artículo científico publicado en 2007

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

artículo científico publicado en 2014

Binding of complement regulators factor H and C4b binding protein to group A streptococcal strains isolated from tonsillar tissue and blood

scientific article published on 16 April 2008

C4A deficiency in children and adolescents with recurrent respiratory infections

artículo científico publicado en 2012

Changes in brain function and morphology in patients with recurring herpes simplex virus infections and chronic pain

artículo científico publicado en 2009

Chlamydia pneumoniae infection is associated with HLA-B⁎35 in patients with coronary artery disease

scholarly article by Anil Palikhe et al published June 2007 in International Journal of Cardiology

Chronic norovirus infection in primary immune deficiency disorders: an international case series

artículo científico publicado en 2018

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

artículo científico publicado en 2016

Complement C4 deficiency and HLA homozygosity in patients with frequent intraoral herpes simplex virus type 1 infections

artículo científico publicado en 2001

Complement C4 deficiency--a plausible risk factor for non-tuberculous mycobacteria (NTM) infection in apparently immunocompetent patients

artículo científico publicado en 2014

Complement and C4 Null Alleles in Severe Chronic Adult Periodontitis

artículo científico publicado en 2007

Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction

artículo científico publicado en 2012

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

artículo científico publicado en 2017

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

artículo científico publicado en 2015

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Diversity of extended HLA-DRB1 haplotypes in the Finnish population

artículo científico publicado en 2013

Do as I say, not as I do: handwashing compliance of infectious diseases experts during influenza pandemic.

artículo científico publicado en 2010

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

artículo científico publicado en 2019

Dose escalation of montelukast in the treatment of nine patients with nasal polyposis: an open pilot study: Our experience

artículo científico publicado en 2014

Echovirus type 4 as a probable cause of meningitis associated with bilateral optic neuritis: a case report

artículo científico publicado en 2004

Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.

artículo científico publicado en 2017

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

artículo científico publicado en 2016

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

scientific article published on 13 June 2019

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

article

HLA-DRB1 allele frequencies and C4 copy number variation in Finnish sarcoidosis patients and associations with disease prognosis

artículo científico publicado en 2011

HLA-DRB1*01 allele and low plasma immunoglobulin G1 concentration may predispose to herpes-associated recurrent lymphocytic meningitis

artículo científico publicado en 2009

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

artículo científico publicado en 2018

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

scientific article published on 16 September 2020

Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease

artículo científico publicado en 2007

Immunoglobulin E-an Innocent Bystander in Host Defense?

artículo científico publicado en 2018

Immunoglobulin G treatment of secondary immunodeficiencies in the era of novel therapies

Immunoglobulins and complement factor C4 in adult rhinosinusitis

artículo científico publicado en 2006

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

artículo científico publicado en 2019

Inhibition of rubella virus replication by the broad-spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency

artículo científico publicado en 2017

Is there a need to redefine the diagnostic criteria for common variable immunodeficiency?

artículo científico publicado en 2013

Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations

artículo científico publicado en 2017

Lymphotoxin alpha LTA+496C allele is a risk factor for periodontitis in patients with coronary artery disease

artículo científico publicado en 2008

MHC-related risk markers for coronary artery disease—Special emphasis on C4

scholarly article by Riitta Paakkanen et al published September 2009 in Molecular Immunology

Major histocompatibility complex class II and BTNL2 associations in sarcoidosis

artículo científico publicado en 2013

Mannose-binding lectin 2 gene polymorphism in recurrent herpes simplex virus 2 infection

artículo científico publicado en 2009

Myiasis during adventure sports race

artículo científico publicado en 2004

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.

artículo científico publicado en 2017

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

scientific article published on 01 July 2019

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

artículo científico publicado en 2020

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

artículo científico publicado en 2019

Novel cytoskeletal mutations with immunodeficiency: Why is the raven like a writing desk?

scholarly article by Mikko Seppänen et al published November 2018 in The Journal of Allergy and Clinical Immunology

Occurrence of human bocaviruses and parvovirus 4 in solid tissues

artículo científico publicado en 2012

Peripheral hypertrophic subepithelial corneal degeneration: characterization, treatment and association with human leucocyte antigen genes

artículo científico publicado en 2013

Pharyngitis and Exanthema Caused by Arcanobacterium haemolyticum

scientific article published on 01 May 2001

Primary Immunodeficiency, a Possible Cause of Neutrophilic Necrotizing Dermatosis

scientific article published on 01 July 2019

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

artículo científico publicado en 2016

Proinflammatory HLA-DRB1*01-haplotype predisposes to ST-elevation myocardial infarction

artículo científico publicado en 2012

Recurrent lymphocytic meningitis positive for herpes simplex virus type 2.

artículo científico publicado en 2009

Rhinovirus/enterovirus RNA in tonsillar tissue of children with tonsillar disease

artículo científico publicado en 2005

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

artículo científico publicado en 2019

SNP Variants in Major Histocompatibility Complex Are Associated with Sarcoidosis Susceptibility-A Joint Analysis in Four European Populations

artículo científico publicado en 2017

Serum complement C3/C4 ratio, a novel marker for recurrent cardiovascular events

artículo científico publicado en 2007

Subtly impaired humoral immunity predisposes to frequently recurring genital herpes simplex virus type 2 infection and herpetic neuralgia

artículo científico publicado en 2006

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

artículo científico publicado en 2014

Terminal deletion of 11q with significant late-onset combined immune deficiency

artículo científico publicado en 2014

The evolution of cellular deficiency in GATA2 mutation

artículo científico publicado en 2013

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

artículo científico publicado en 2017

Widespread unilateral pain associated with herpes simplex virus infections

artículo científico publicado en 2008

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world

scientific article published on 22 March 2019

Lista de obras de Mikko Seppänen

205-P Immunogenetics of complement C4 deficiencies

A High Prevalence of Gastrointestinal Manifestations in Common Variable Immunodeficiency

ADA2 deficiency: clonal lymphoproliferation in a subset of patients

Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease

Analysis of clinical and immunologic phenotype in a large cohort of children and adults with cartilage-hair hypoplasia

Association of Chlamydia pneumoniae infection with HLA-B*35 in patients with coronary artery disease

Autoimmunity, hypogammaglobulinemia, lymphoproliferation, and mycobacterial disease in patients with activating mutations in STAT3.

Binding of complement regulators factor H and C4b binding protein to group A streptococcal strains isolated from tonsillar tissue and blood

C4A deficiency in children and adolescents with recurrent respiratory infections

Changes in brain function and morphology in patients with recurring herpes simplex virus infections and chronic pain

Chlamydia pneumoniae infection is associated with HLA-B⁎35 in patients with coronary artery disease

Chronic norovirus infection in primary immune deficiency disorders: an international case series

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

Complement C4 deficiency and HLA homozygosity in patients with frequent intraoral herpes simplex virus type 1 infections

Complement C4 deficiency--a plausible risk factor for non-tuberculous mycobacteria (NTM) infection in apparently immunocompetent patients

Complement and C4 Null Alleles in Severe Chronic Adult Periodontitis

Copy number analysis of complement C4A, C4B and C4A silencing mutation by real-time quantitative polymerase chain reaction

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes

Dermatologic Features of ADA2 Deficiency in Cutaneous Polyarteritis Nodosa

Diagnostics of rare disorders: whole-exome sequencing deciphering locus heterogeneity in telomere biology disorders

Diversity of extended HLA-DRB1 haplotypes in the Finnish population

Do as I say, not as I do: handwashing compliance of infectious diseases experts during influenza pandemic.

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease

Dose escalation of montelukast in the treatment of nine patients with nasal polyposis: an open pilot study: Our experience

Echovirus type 4 as a probable cause of meningitis associated with bilateral optic neuritis: a case report

Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.

Enrichment of rare variants in population isolates: single AICDA mutation responsible for hyper-IgM syndrome type 2 in Finland

Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype

HLA-DRB1 allele frequencies and C4 copy number variation in Finnish sarcoidosis patients and associations with disease prognosis

HLA-DRB1*01 allele and low plasma immunoglobulin G1 concentration may predispose to herpes-associated recurrent lymphocytic meningitis

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis

Human MHC region harbors both susceptibility and protective haplotypes for coronary artery disease

Immunoglobulin E-an Innocent Bystander in Host Defense?

Immunoglobulin G treatment of secondary immunodeficiencies in the era of novel therapies

Immunoglobulins and complement factor C4 in adult rhinosinusitis

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Inhibition of rubella virus replication by the broad-spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency

Is there a need to redefine the diagnostic criteria for common variable immunodeficiency?

Low IgE Is Insufficiently Sensitive to Guide Genetic Testing of STAT3 Gain-of-Function Mutations

Lymphotoxin alpha LTA+496C allele is a risk factor for periodontitis in patients with coronary artery disease

MHC-related risk markers for coronary artery disease—Special emphasis on C4

Major histocompatibility complex class II and BTNL2 associations in sarcoidosis

Mannose-binding lectin 2 gene polymorphism in recurrent herpes simplex virus 2 infection

Myiasis during adventure sports race

Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions

Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency

Novel TMEM173 Mutation and the Role of Disease Modifying Alleles

Novel cytoskeletal mutations with immunodeficiency: Why is the raven like a writing desk?

Occurrence of human bocaviruses and parvovirus 4 in solid tissues

Peripheral hypertrophic subepithelial corneal degeneration: characterization, treatment and association with human leucocyte antigen genes

Pharyngitis and Exanthema Caused by Arcanobacterium haemolyticum

Primary Immunodeficiency, a Possible Cause of Neutrophilic Necrotizing Dermatosis

Primary immunodeficiency associated with chromosomal aberration - an ESID survey

Proinflammatory HLA-DRB1*01-haplotype predisposes to ST-elevation myocardial infarction

Recurrent lymphocytic meningitis positive for herpes simplex virus type 2.

Rhinovirus/enterovirus RNA in tonsillar tissue of children with tonsillar disease

Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders

SNP Variants in Major Histocompatibility Complex Are Associated with Sarcoidosis Susceptibility-A Joint Analysis in Four European Populations

Serum complement C3/C4 ratio, a novel marker for recurrent cardiovascular events

Subtly impaired humoral immunity predisposes to frequently recurring genital herpes simplex virus type 2 infection and herpetic neuralgia

TLR3 deficiency in herpes simplex encephalitis: high allelic heterogeneity and recurrence risk

Terminal deletion of 11q with significant late-onset combined immune deficiency

The evolution of cellular deficiency in GATA2 mutation

Unexpectedly High Prevalence of Common Variable Immunodeficiency in Finland

Widespread unilateral pain associated with herpes simplex virus infections

X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world