List of works - Rainer Doffinger

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

scientific article

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis.

scientific article published on January 2016

A protease-activatable luminescent biosensor and reporter cell line for authentic SARS-CoV-2 infection

scientific article published on 10 February 2022

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

scientific article

A thermostable, closed SARS-CoV-2 spike protein trimer

scientific article published on 31 July 2020

A thermostable, closed, SARS-CoV-2 spike protein trimer

preprint published on 17 June 2020

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway ⬇️

scientific article published on 6 March 2018

Aberrant disgust responses and immune reactivity in cocaine-dependent men.

scientific article published on 03 October 2013

Accelerated waning of the humoral response to COVID-19 vaccines in obesity

scientific article published in May 2023

Age-related immune response heterogeneity to SARS-CoV-2 vaccine BNT162b2

scientific article published in August 2021

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Analysis of Serological Biomarkers of SARS-CoV-2 Infection in Convalescent Samples From Severe, Moderate and Mild COVID-19 Cases

scientific article published in 2021

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia

article

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

scientific article published on 7 December 2017

Anticytokine autoantibodies in infection and inflammation: an update.

scientific article

Anticytokine autoantibodies leading to infection: early recognition, diagnosis and treatment options

scientific article published on 01 August 2019

Atypical B cells and impaired SARS-CoV-2 neutralization following heterologous vaccination in the elderly

scientific article published in August 2023

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

scientific article

Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

scientific article published on 17 May 2020

Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity

scientific article published on 04 December 2003

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases ⬇️

scientific article published in November 2017

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

scientific article

BCG induced lupus vulgaris: an unexpected adverse event

scientific article published on 11 March 2017

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

scientific article published on 01 November 2004

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

scientific article published on 23 December 2016

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

scientific article published on 19 July 2018

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

scientific article published on 8 November 2017

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

scientific article

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

scientific article published on 16 July 2016

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease.

scientific article

Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency

scientific article published on 27 May 2014

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA

scientific article published on 17 April 2017

Disseminated Mycobacterium tuberculosis infection due to interferon gamma deficiency. Response to replacement therapy

scientific article

Dysregulated humoral immunity to nontyphoidal Salmonella in HIV-infected African adults

scientific article published on April 2010

Emergence of host-adapted Salmonella Enteritidis through rapid evolution in an immunocompromised host

scientific article published on 25 January 2016

Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome

scientific article published on 03 December 2020

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

scientific article published on 20 December 2019

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications. ⬇️

scientific article published on 6 November 2017

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

scientific article published on 5 July 2017

Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity

scientific article

Human immunodeficiencies that predispose to intracellular bacterial infections

scientific article

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

scientific article published on 30 April 2019

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

scientific article

IRF8 mutations and human dendritic-cell immunodeficiency

scientific article

Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease

scientific article published on 07 December 2020

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

scientific article published on 27 March 2014

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

scientific article

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

scientific article

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses

scientific article published on 31 August 2020

Interferon gamma replacement as salvage therapy in chronic pulmonary aspergillosis: effects on frequency of acute exacerbation and all-cause hospital admission

scientific article published on 30 March 2020

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

scientific article published on 14 September 2012

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies

scientific article

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

scientific article published on 15 November 2010

Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels

article

Novel Mutation in a Patient With APLAID and Cutis Laxa

scientific article published on 14 December 2018

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

scientific article

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

scientific article published in June 2002

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

article

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

scientific article

Pneumococcal polysaccharide vaccine responses are impaired in a subgroup of children with cystic fibrosis.

scientific article published on 11 March 2014

Protein microarrays identify disease-specific anti-cytokine autoantibody profiles in the landscape of immunodeficiency

scientific article

Recurrent mycobacterial infections in a patient with IL-12 deficiency

scientific article

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

scientific article

SARS-CoV-2 B.1.1.7 sensitivity to mRNA vaccine-elicited, convalescent and monoclonal antibodies

scientific article

SARS-CoV-2 Omicron spike mediated immune escape, infectivity and cell-cell fusion

SARS-CoV-2 evolution during treatment of chronic infection

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

scientific article

Simultaneous disseminated infections with intracellular pathogens: an intriguing case report of adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

scientific article published on 11 November 2020

Specific antibody deficiency in children with chronic wet cough.

scientific article published on 30 January 2012

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

scientific article

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

scientific article

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

scientific article

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

scientific article published on 17 January 2011

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

scientific article

Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report

scientific article published on 14 December 2020

List of works by Rainer Doffinger

A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A hypermorphic IκBα mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency

A novel insight into the immunologic basis of chronic granulomatous invasive fungal rhinosinusitis.

A protease-activatable luminescent biosensor and reporter cell line for authentic SARS-CoV-2 infection

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

A thermostable, closed SARS-CoV-2 spike protein trimer

A thermostable, closed, SARS-CoV-2 spike protein trimer

A type III complement factor D deficiency: Structural insights for inhibition of the alternative pathway ⬇️

Aberrant disgust responses and immune reactivity in cocaine-dependent men.

Accelerated waning of the humoral response to COVID-19 vaccines in obesity

Age-related immune response heterogeneity to SARS-CoV-2 vaccine BNT162b2

Altered TMPRSS2 usage by SARS-CoV-2 Omicron impacts tropism and fusogenicity

Analysis of Serological Biomarkers of SARS-CoV-2 Infection in Convalescent Samples From Severe, Moderate and Mild COVID-19 Cases

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR*15:02/16:02 and HLA-DQ*05:01/05:02 across Southeast Asia

Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.

Anticytokine autoantibodies in infection and inflammation: an update.

Anticytokine autoantibodies leading to infection: early recognition, diagnosis and treatment options

Atypical B cells and impaired SARS-CoV-2 neutralization following heterologous vaccination in the elderly

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity

Autoimmune-autoinflammatory rheumatoid arthritis overlaps: a rare but potentially important subgroup of diseases ⬇️

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

BCG induced lupus vulgaris: an unexpected adverse event

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

Biallelic interferon regulatory factor 8 mutation: A complex immunodeficiency syndrome with dendritic cell deficiency, monocytopenia, and immune dysregulation ⬇️

Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study ⬇️

Differential Impairment of Interferon-γ Responses in Two Cases of Pulmonary Nontuberculous Mycobacterial Disease.

Disseminated BCG in an infant with interleukin-12 receptor B1 (IL12RB1) deficiency

Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA

Disseminated Mycobacterium tuberculosis infection due to interferon gamma deficiency. Response to replacement therapy

Dysregulated humoral immunity to nontyphoidal Salmonella in HIV-infected African adults

Emergence of host-adapted Salmonella Enteritidis through rapid evolution in an immunocompromised host

Evidence of B Cell Clonality and Investigation Into Properties of the IgM in Patients With Schnitzler Syndrome

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

Glucose-6-Phosphatase Catalytic Subunit 3 (G6PC3) Deficiency Associated With Autoinflammatory Complications. ⬇️

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG / NEMO mutations.

Host genetic factors and mycobacterial infections: lessons from single gene disorders affecting innate and adaptive immunity

Human immunodeficiencies that predispose to intracellular bacterial infections

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

IRAK-4- and MyD88-dependent pathways are essential for the removal of developing autoreactive B cells in humans

IRF8 mutations and human dendritic-cell immunodeficiency

Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Impaired T-cell receptor activation in IL-1 receptor-associated kinase-4-deficient patients

Impaired neutrophil migration and phagocytosis in IRAK-4 deficiency

Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses

Interferon gamma replacement as salvage therapy in chronic pulmonary aspergillosis: effects on frequency of acute exacerbation and all-cause hospital admission

LRBA gene deletion in a patient presenting with autoimmunity without hypogammaglobulinemia

Mucosal-Associated Invariant T (MAIT) Cells Are Impaired in Th17 Associated Primary and Secondary Immunodeficiencies

Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans

Nonpathogenic Common Variants of IFNGR1 and IFNGR2 in Association with Total Serum IgE Levels

Novel Mutation in a Patient With APLAID and Cutis Laxa

Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia

Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother

Partial Interferon‐γ Receptor Signaling Chain Deficiency in a Patient with Bacille Calmette‐Guérin andMycobacterium abscessusInfection

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage

Pneumococcal polysaccharide vaccine responses are impaired in a subgroup of children with cystic fibrosis.

Protein microarrays identify disease-specific anti-cytokine autoantibody profiles in the landscape of immunodeficiency

Recurrent mycobacterial infections in a patient with IL-12 deficiency

Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries

SARS-CoV-2 B.1.1.7 sensitivity to mRNA vaccine-elicited, convalescent and monoclonal antibodies

SARS-CoV-2 Omicron spike mediated immune escape, infectivity and cell-cell fusion

SARS-CoV-2 evolution during treatment of chronic infection

Sensitivity of SARS-CoV-2 B.1.1.7 to mRNA vaccine-elicited antibodies

Simultaneous disseminated infections with intracellular pathogens: an intriguing case report of adult-onset immunodeficiency with anti-interferon-gamma autoantibodies

Specific antibody deficiency in children with chronic wet cough.

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes

The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency ⬇️

The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88

Treatment of COVID-19 with remdesivir in the absence of humoral immunity: a case report

Anti-IFN-γ autoantibodies are strongly associated with HLA-DR15:02/16:02 and HLA-DQ05:01/05:02 across Southeast Asia