List of works - Kathleen E. Sullivan

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

scientific article

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

scientific article

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

scientific article

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

scientific article (publication date: August 2011)

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

scientific article

Genome-wide association identifies diverse causes of common variable immunodeficiency

scientific article published on 17 April 2011

Epigenetic regulation of tumor necrosis factor alpha.

scientific article published on 21 May 2007

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

scientific article published in November 2001

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

scientific article published in September 2010

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

scientific article

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

scientific article

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

scientific article published on October 1995

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

scientific article published in December 1997

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

scientific article published on 4 February 2013

Infections in Patients with Inherited Defects in Phagocytic Function

scientific article published on October 1, 2003

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

scientific article

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

scientific article published in October 1998

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

scientific article published in December 1996

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

scientific article

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

scientific article published on 2 October 2003

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

scientific article

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

scientific article

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

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

scientific article published on May 2008

GCF2/LRRFIP1 represses tumor necrosis factor alpha expression

scientific article

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

scientific article

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

scientific article published in May 2006

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

scientific article

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

scientific article

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

scientific article

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

Use of sirolimus in IPEX and IPEX-like children

scientific article

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

scientific article

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

scientific article published on 15 May 2010

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

scientific article

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

scientific article published on 11 October 2017

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

scientific article published on November 2000

Rituximab-treated patients have a poor response to influenza vaccination

scientific article published on 14 October 2012

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

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

scientific article published in March 2003

Immune abnormalities are a frequent manifestation of Kabuki syndrome

scientific article published in June 2005

Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

scientific article published on July 17, 2012

A second look at second-order belief attribution in autism

scientific article published in October 1994

Primary Immune Deficiency Treatment Consortium (PIDTC) report

scientific article published on 15 October 2013

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

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

scientific article

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

scientific article published on July 19, 2011

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

scientific article published on 15 April 2006

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

scientific article published on 28 August 2018

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

scientific article

List of works by Kathleen E. Sullivan

A multiinstitutional survey of the Wiskott-Aldrich syndrome.

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

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

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

Transplantation outcomes for severe combined immunodeficiency, 2000-2009.

Genome-wide association identifies diverse causes of common variable immunodeficiency

Epigenetic regulation of tumor necrosis factor alpha.

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

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

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

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

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

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

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

Infections in Patients with Inherited Defects in Phagocytic Function

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

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

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

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

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

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

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

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

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

GCF2/LRRFIP1 represses tumor necrosis factor alpha expression

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

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

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

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

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

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

Use of sirolimus in IPEX and IPEX-like children

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

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

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

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

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

Rituximab-treated patients have a poor response to influenza vaccination

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

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

Immune abnormalities are a frequent manifestation of Kabuki syndrome

Immunoglobulin Deficiencies: The B-Lymphocyte Side of DiGeorge Syndrome

A second look at second-order belief attribution in autism

Primary Immune Deficiency Treatment Consortium (PIDTC) report

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.

Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome

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

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

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

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