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List of works by Kerry Dobbs

A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

scientific article published on 28 January 2008

A novel mutation in the POLE2 gene causing combined immunodeficiency.

scientific article published on 11 September 2015

A possible bichromatid mutation in a male gamete giving rise to a female mosaic for two different mutations in the X-linked gene WAS.

scientific article published in February 2007

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

scientific article

Adult-Onset Myopathy in a Patient with Hypomorphic RAG2 Mutations and Combined Immune Deficiency

scientific article published on 30 August 2018

Agammaglobulinemia and absent B lineage cells in a patient lacking the p85α subunit of PI3K.

scientific article published on 20 February 2012

Agammaglobulinemia associated with BCR⁻ B cells and enhanced expression of CD19

scientific article

Architecture of the human PI4KIIIα lipid kinase complex

scientific article published on 11 December 2017

Auto-antibodies against type I IFNs in patients with life-threatening COVID-19

scientific article published on 24 September 2020

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency

scientific article

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

scientific article published in November 2016

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

scientific article published on 16 December 2016

Corrigendum: Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Conten

scientific article published on 10 October 2017

Cysteine and hydrophobic residues in CDR3 serve as distinct T-cell self-reactivity indices

scientific article published on 30 April 2019

Defining a new immune deficiency syndrome: MAN2B2-CDG

scientific article published on 24 November 2019

Differential role of nonhomologous end joining factors in the generation, DNA damage response, and myeloid differentiation of human induced pluripotent stem cells

scientific article

Diverse Autoantibody Reactivity in Cartilage-Hair Hypoplasia.

scientific article

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay

scientific article

Efficacy of lentiviral mediated gene therapy in an Omenn syndrome Rag2 mouse model is not hindered by inflammation and immune dysregulation

scientific article published on 11 December 2017

From Natural Killer Cell Receptor Discovery to Characterization of Natural Killer Cell Defects in Primary Immunodeficiencies

scientific article published on 24 July 2019

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

scientific article published on 25 May 2015

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

scientific article published on 05 December 2019

Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity

article

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

scientific article published in February 2018

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections

scientific article published on June 2015

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

scientific article published on 11 April 2016

Lymphocyte-driven regional immunopathology in pneumonitis caused by impaired central immune tolerance

scientific article published on 01 June 2019

Membranous glomerulopathy in an adult patient with X-linked agammaglobulinemia receiving intravenous gammaglobulin

scientific article published on January 2011

Multicenter analysis of neutrophil extracellular trap dysregulation in adult and pediatric COVID-19

scientific article published in 2022

Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content

scientific article

Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient

scientific article published on 02 November 2015

Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome

scientific article published on 18 July 2014

PAX1 is essential for development and function of the human thymus

scientific article published on 01 February 2020

Patients with CD3G mutations reveal a role for human CD3γ in Treg diversity and suppressive function

scientific article published on 13 April 2018

Production and persistence of specific antibodies in COVID-19 patients with hematologic malignancies: role of rituximab

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress

scientific article published on 6 July 2015

Severe influenza pneumonitis in children with inherited TLR3 deficiency

scientific article published on 19 June 2019

T-cell defects in patients with germline mutations account for combined immunodeficiency

scientific article published on 25 September 2018

Time-resolved systems immunology reveals a late juncture linked to fatal COVID-19

scientific article published on 10 February 2021

Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias.

scientific article

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