List of works - Kathleen E. Sullivan

3' polymorphisms of ETS1 are associated with different clinical phenotypes in SLE.

scientific article

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

scientific article

A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency

scientific article published on 19 March 2012

A potential screening tool for IPEX syndrome.

scientific article published in March 2007

A promoter polymorphism of tumor necrosis factor alpha associated with systemic lupus erythematosus in African-Americans

scientific article published in December 1997

A prospective study of chemotherapy immunologic effects and predictors of humoral influenza vaccine responses in a pediatric oncology cohort ⬇️

scientific article published on November 30, 2012

A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

scientific article published on 24 August 2011

A second look at second-order belief attribution in autism

scientific article published in October 1994

A single-center study of hematopoietic stem cell transplantation for primary immune deficiencies (PIDD).

scientific article published on 17 November 2011

ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.

scientific article

Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus

scientific article

Acrimonious acronyms: CRMO, SAPHO and a sore shin

scientific article published in March 2007

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry

scientific article published on 02 September 2020

Adoptive transfer of autologous T cells improves T-cell repertoire diversity and long-term B-cell function in pediatric patients with neuroblastoma.

scientific article published on 23 October 2012

Age-related trends in pediatric B-cell subsets

scientific article published on 26 July 2010

Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease

scientific article published in May 2005

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

scientific article

An exemplum of XLA.

scientific article published on 31 October 2007

Analysis of polymorphisms affecting immune complex handling in systemic lupus erythematosus.

scientific article published in March 2003

Anguish over angiopathy: hemolytic uremic syndrome

scientific article

Apoptotic cells, autoantibodies, and the role of HMGB1 in the subcellular localization of an autoantigen.

scientific article published on 18 October 2005

Association of a Promoter Polymorphism of Tumor Necrosis Factor-α with Subacute Cutaneous Lupus Erythematosus and Distinct Photoregulation of Transcription1,21Werth VP, Sullivan K: Strong association of a promoter polymorphism of tumor necrosis fact

scientific article published in October 2000

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

scientific article

Associations of Tumor Necrosis Factor α and HLA Polymorphisms with Adult Dermatomyositis: Implications for a Unique Pathogenesi1

scientific article published in September 2002

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

scientific article published on 19 September 2017

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

scientific article published on October 1995

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

CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia.

scientific article published on September 2002

CD68 expression is markedly different in Crohn's disease and the colitis associated with chronic granulomatous disease.

scientific article published in August 2009

Characterization of LRRFIP1 ⬇️

scientific article published on December 1, 2010

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

scientific article

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome

scientific article published on 01 January 2019

Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.

scientific article published on May 2008

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

scientific article published on 02 August 2019

Chronic arthritis without uveitis in velocardiofacial syndrome

scientific article published in August 2006

Clinical conditions associated with PCP in children.

scientific article published on 18 October 2011

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

scientific article published on 12 September 2007

Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

scientific article published on 29 August 2020

Decreased Natural Killer (NK) Cell Function in Chronic NK Cell Lymphocytosis Associated with Decreased Surface Expression of CD11b

scientific article published in April 2001

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

scientific article published on 4 February 2013

Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome

scientific article published in July 1997

Diminished T cell numbers in patients with chronic granulomatous disease

scientific article published in December 2002

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.

scientific article

Enhancer RNA and NFκB-dependent P300 regulation of ADAMDEC1

scientific article published on 20 October 2018

Epigenetic regulation of tumor necrosis factor alpha.

scientific article published on 21 May 2007

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

scientific article published on 08 April 2020

Expert Commentary: Practical Issues in Newborn Screening for Severe Combined Immune Deficiency (SCID) ⬇️

scientific article published on October 20, 2011

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

scientific article published in May 2006

Failure of physiologic doses of pure UVA or UVB to induce lesions in photosensitive cutaneous lupus erythematosus: implications for phototesting.

scientific article published in December 2006

GCF2/LRRFIP1 represses tumor necrosis factor alpha expression

scientific article

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

scientific article

Genome-wide analysis of interferon regulatory factor I binding in primary human monocytes ⬇️

scientific article published on July 19, 2011

Genome-wide association identifies diverse causes of common variable immunodeficiency

scientific article published on 17 April 2011

Geosmithia argillacea: an emerging cause of invasive mycosis in human chronic granulomatous disease.

scientific article

Global systematic review of primary immunodeficiency registries

scientific article published on 28 July 2020

Graves' disease in patients with 22q11.2 deletion

scientific article published in December 2001

Healing hemophagocytosis

scientific article published in November 2005

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

scientific article published on 21 February 2020

Hot and hobbling with hives: Schnitzler syndrome

scientific article published in May 2006

How to flee the flu

scientific article published in September 2004

Hyper IgM Syndrome: a Report from the USIDNET Registry

scientific article published on 17 May 2016

Hypogammaglobulinemia in a pediatric tertiary care setting

scientific article published in October 2007

IL-1 Transcriptional Responses to Lipopolysaccharides Are Regulated by a Complex of RNA Binding Proteins

scientific article published on 17 January 2020

Immune abnormalities are a frequent manifestation of Kabuki syndrome

scientific article published in June 2005

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

scientific article published on 11 October 2017

Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome ⬇️

scientific article published on July 17, 2012

Immunologic Consequences of Chemotherapy for Acute Myeloid Leukemia ⬇️

scientific article published on January 1, 2013

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

scientific article published in November 2001

Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety

scientific article published on 17 April 2020

Infections in Patients with Inherited Defects in Phagocytic Function ⬇️

scientific article published on October 1, 2003

Inflammation in Juvenile Idiopathic Arthritis

scientific article published in August 2007

Inflammation in juvenile idiopathic arthritis.

scientific article

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

scientific article published on 30 September 2017

Interferon-γ polymorphisms in systemic lupus erythematosus

scientific article published in August 2001

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

scientific article published in March 1997

LPS and poly I:C induce chromatin modifications at a novel upstream region of the IL-23 p19 promoter.

scientific article published on August 2008

Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

scientific article published in February 1998

Leucine-rich repeat (in Flightless I) interacting protein-1 regulates a rapid type I interferon response

scientific article

Live viral vaccines in patients with DiGeorge syndrome

scientific article published in October 2004

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

scientific article published on 15 April 2006

Mannose binding lectin (MBL) polymorphisms associated with low MBL production in patients with dermatomyositis.

scientific article

Mannose-binding protein genetic polymorphisms in black patients with systemic lupus erythematosus

scientific article published in December 1996

Measurement of cytokine secretion, intracellular protein expression, and mRNA in resting and stimulated peripheral blood mononuclear cells.

scientific article published on November 2000

Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases

scientific article

Monocyte polarization: the relationship of genome-wide changes in H4 acetylation with polarization.

scientific article published on 31 March 2011

Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred

scientific article published in July 2010

New clues to accrue on neutropenia in rheumatoid arthritis

scientific article published in October 2005

New developments in primary immunodeficiencies: Report on the 2006 CIS Primary Immunodeficiency Diseases Consortium Conference, June 1, 2006

scientific article published in December 2006

Novel mutation in STXBP2 prevents IL-2–induced natural killer cell cytotoxicity ⬇️

scientific article published on February 14, 2012

Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma

scientific article published on 24 January 2019

Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant

scientific article published on 14 January 2021

Pediatric common variable immunodeficiency: immunologic and phenotypic associations with switched memory B cells

scientific article published on 19 March 2010

Persons Living With Primary Immunodeficiency Act as Citizen Scientists and Launch Prospective Cohort Body Temperature Study

scientific article published on 30 November 2020

Pondering probiotics

scientific article published in October 2006

Poor immunogenicity of the H1N1 2009 vaccine in well controlled HIV-infected individuals

scientific article published in September 2010

Practical guidelines for managing patients with 22q11.2 deletion syndrome

scientific article (publication date: August 2011)

Prevalence of chronic granulomatous disease in pediatric patients diagnosed with Crohn's disease

scientific article published in May 2008

Primary Immune Deficiency Treatment Consortium (PIDTC) report

scientific article published on 15 October 2013

Primary immunodeficiency diseases consortium conference

scientific article published in September 2005

Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment

scientific article published in January 2002

Prolactin activates IRF1 and leads to altered balance of histone acetylation: Implications for systemic lupus erythematosus

scientific article published on 07 June 2019

Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS)

scientific article

Rapid Method for Determining the Rate of DNA Synthesis and Cellular Proliferation

scientific article published in February 2000

Recent advances in our understanding of Wiskott-Aldrich syndrome.

scientific article

Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts

scientific article

Rituximab-treated patients have a poor response to influenza vaccination

scientific article published on 14 October 2012

Ruminating on rheumatoid arthritis and transplantation

scientific article published in May 2005

SCID genotype and 6-month posttransplant CD4 count predict survival and immune recovery

scientific article published on 28 August 2018

Safety of L-proline as a stabilizer for immunoglobulin products.

scientific article published on February 2012

Sarcoidosis and common variable immunodeficiency. Report of 8 cases and review of the literature.

scientific article

Second-order belief attribution in Williams syndrome: intact or impaired?

scientific article

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

scientific article published on 15 May 2010

Seeing the light with celiac

scientific article published in June 2005

Self concept in people with Williams syndrome and Prader–Willi syndrome

scientific article published in March 2004

Stamping out Staphylococcus

scientific article published in October 2004

Strange symptoms in Sneddon's syndrome

scientific article published in April 2006

Swelling isn't swell

scientific article published in December 2004

T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome

scientific article published on 2 October 2003

TH1 and TH2 cytokine mRNA and protein levels in human immunodeficiency virus (HIV)-seropositive and HIV-seronegative youths

scientific article

TNFα Inhibition in MRL/lpr Mice Ameliorates Pulmonary but not Renal Disease

scientific article published in December 2002

The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome

scientific article published on 25 June 2020

The Fc gammaRIIIA-158F allele is a risk factor for systemic lupus erythematosus

scientific article published in October 1998

The chronicles of chronic granulomatous disease

scientific article published in August 2005

The efficacy of influenza vaccination in a pediatric oncology population.

scientific article published in July 2010

The immune deficiency of chromosome 22q11.2 deletion syndrome

scientific article published on 19 June 2017

The karma of Kikuchi's disease

article published in 2005

The polymorphic CYP17 allele is not found with increased frequency in systemic lupus erythematosus

scientific article published in May 1998

Three-year-olds' understanding of mental states: the influence of trickery

scientific article published in October 1993

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

scientific article

Toll-like receptor 2 stimulation augments esophageal barrier integrity

scientific article published on 25 July 2019

Transfer of influenza vaccine-primed costimulated autologous T cells after stem cell transplantation for multiple myeloma leads to reconstitution of influenza immunity: results of a randomized clinical trial.

scientific article

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

scientific article

USIDNET: a strategy to build a community of clinical immunologists

scientific article

Ultraviolet-B recruits mannose-binding lectin into skin from non-cutaneous sources.

scientific article

Uncommon conundrum in common variable immunodeficiency

scientific article

Understanding of Inheritance and Genetic Variation Assessed through the Use of an Engaging Real-Life Survey

scientific article published on 08 December 2020

Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS)

scientific article

Use of sirolimus in IPEX and IPEX-like children

scientific article

Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.

scientific article published on 17 January 2018

Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes

scientific article

What is new with 22q? An update from the 22q and You Center at the Children's Hospital of Philadelphia

scientific article published in October 2018

X-linked lymphoproliferative syndrome: An X-cellent question

scientific article published in June 2006

List of works by Kathleen E. Sullivan

3' polymorphisms of ETS1 are associated with different clinical phenotypes in SLE.

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency

A potential screening tool for IPEX syndrome.

A promoter polymorphism of tumor necrosis factor alpha associated with systemic lupus erythematosus in African-Americans

A prospective study of chemotherapy immunologic effects and predictors of humoral influenza vaccine responses in a pediatric oncology cohort ⬇️

A prospective study of influenza vaccination and a comparison of immunologic parameters in children and adults with chromosome 22q11.2 deletion syndrome (digeorge syndrome/velocardiofacial syndrome).

A second look at second-order belief attribution in autism

A single-center study of hematopoietic stem cell transplantation for primary immune deficiencies (PIDD).

ATM stabilizes DNA double-strand-break complexes during V(D)J recombination.

Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus

Acrimonious acronyms: CRMO, SAPHO and a sore shin

Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry

Adoptive transfer of autologous T cells improves T-cell repertoire diversity and long-term B-cell function in pediatric patients with neuroblastoma.

Age-related trends in pediatric B-cell subsets

Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease

Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs

An exemplum of XLA.

Analysis of polymorphisms affecting immune complex handling in systemic lupus erythematosus.

Anguish over angiopathy: hemolytic uremic syndrome

Apoptotic cells, autoantibodies, and the role of HMGB1 in the subcellular localization of an autoantigen.

Association of a Promoter Polymorphism of Tumor Necrosis Factor-α with Subacute Cutaneous Lupus Erythematosus and Distinct Photoregulation of Transcription1,21Werth VP, Sullivan K: Strong association of a promoter polymorphism of tumor necrosis fact

Association of the BANK 1 R61H variant with systemic lupus erythematosus in Americans of European and African ancestry.

Associations of Tumor Necrosis Factor α and HLA Polymorphisms with Adult Dermatomyositis: Implications for a Unique Pathogenesi1

Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

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

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

CD4(+) CD25(+) T-cell production in healthy humans and in patients with thymic hypoplasia.

CD68 expression is markedly different in Crohn's disease and the colitis associated with chronic granulomatous disease.

Characterization of LRRFIP1 ⬇️

Chromosome 22q11.2 deletion syndrome (DiGeorge and velocardiofacial syndromes).

Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome

Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.

Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

Chronic arthritis without uveitis in velocardiofacial syndrome

Clinical conditions associated with PCP in children.

Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes

Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT

Decreased Natural Killer (NK) Cell Function in Chronic NK Cell Lymphocytosis Associated with Decreased Surface Expression of CD11b

Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.

Defective antigen-induced lymphocyte proliferation in the X-linked hyper-IgM syndrome

Diminished T cell numbers in patients with chronic granulomatous disease

Dyskeratosis congenita: a combined immunodeficiency with broad clinical spectrum--a single-center pediatric experience.

Enhancer RNA and NFκB-dependent P300 regulation of ADAMDEC1

Epigenetic regulation of tumor necrosis factor alpha.

Excellent Outcomes Following Hematopoietic Cell Transplantation for Wiskott-Aldrich Syndrome: A PIDTC Report

Expert Commentary: Practical Issues in Newborn Screening for Severe Combined Immune Deficiency (SCID) ⬇️

FBN1, TGFBR1, and the Marfan-craniosynostosis/mental retardation disorders revisited

Failure of physiologic doses of pure UVA or UVB to induce lesions in photosensitive cutaneous lupus erythematosus: implications for phototesting.

GCF2/LRRFIP1 represses tumor necrosis factor alpha expression

Genetic sharing and heritability of paediatric age of onset autoimmune diseases.

Genome-wide analysis of interferon regulatory factor I binding in primary human monocytes ⬇️

Genome-wide association identifies diverse causes of common variable immunodeficiency

Geosmithia argillacea: an emerging cause of invasive mycosis in human chronic granulomatous disease.

Global systematic review of primary immunodeficiency registries

Graves' disease in patients with 22q11.2 deletion

Healing hemophagocytosis

Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey

Hot and hobbling with hives: Schnitzler syndrome

How to flee the flu

Hyper IgM Syndrome: a Report from the USIDNET Registry

Hypogammaglobulinemia in a pediatric tertiary care setting

IL-1 Transcriptional Responses to Lipopolysaccharides Are Regulated by a Complex of RNA Binding Proteins

Immune abnormalities are a frequent manifestation of Kabuki syndrome

Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.

Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome ⬇️

Immunologic Consequences of Chemotherapy for Acute Myeloid Leukemia ⬇️

Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).

Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety

Infections in Patients with Inherited Defects in Phagocytic Function ⬇️

Inflammation in Juvenile Idiopathic Arthritis

Inflammation in juvenile idiopathic arthritis.

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

Interferon-γ polymorphisms in systemic lupus erythematosus

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

LPS and poly I:C induce chromatin modifications at a novel upstream region of the IL-23 p19 promoter.

Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

Leucine-rich repeat (in Flightless I) interacting protein-1 regulates a rapid type I interferon response