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Sullivan, Kathleen
One or more keywords matched the following items that are connected to Sullivan, Kathleen
Item TypeName
Academic Article Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry.
Academic Article HIV/AIDS in Hawai'i: state of the state.
Concept Acquired Immunodeficiency Syndrome
Concept De Lange Syndrome
Concept DiGeorge Syndrome
Concept Down Syndrome
Concept Ehlers-Danlos Syndrome
Concept Hemolytic-Uremic Syndrome
Concept Immunologic Deficiency Syndromes
Concept Malabsorption Syndromes
Concept Nephrotic Syndrome
Concept Respiratory Distress Syndrome, Newborn
Concept Syndrome
Concept Wiskott-Aldrich Syndrome
Concept Systemic Inflammatory Response Syndrome
Concept Sneddon Syndrome
Concept Schnitzler Syndrome
Concept Acquired Hyperostosis Syndrome
Concept Nijmegen Breakage Syndrome
Concept Wiskott-Aldrich Syndrome Protein
Concept Jacobsen Distal 11q Deletion Syndrome
Academic Article Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment.
Academic Article Diminished T cell numbers in patients with chronic granulomatous disease.
Academic Article Thrombocytopenia in patients with chromosome 22q11.2 deletion syndrome.
Academic Article Live viral vaccines in patients with DiGeorge syndrome.
Academic Article Stamping out Staphylococcus.
Academic Article The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Academic Article Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Academic Article T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome.
Academic Article Primary care and primary immunodeficiencies.
Academic Article Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).
Academic Article Systemic conditions associated with periodontitis in childhood and adolescence. A review of diagnostic possibilities.
Academic Article Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease.
Academic Article Immune abnormalities are a frequent manifestation of Kabuki syndrome.
Academic Article Strange symptoms in Sneddon's syndrome.
Academic Article Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Academic Article Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS).
Academic Article Chronic arthritis without uveitis in velocardiofacial syndrome.
Academic Article Anguish over angiopathy: hemolytic uremic syndrome.
Academic Article A potential screening tool for IPEX syndrome.
Academic Article New clues to accrue on neutropenia in rheumatoid arthritis.
Academic Article Healing hemophagocytosis.
Academic Article Hot and hobbling with hives: Schnitzler syndrome.
Academic Article X-linked lymphoproliferative syndrome: an X-cellent question.
Academic Article Acrimonious acronyms: CRMO, SAPHO and a sore shin.
Academic Article Hypogammaglobulinemia in a pediatric tertiary care setting.
Academic Article DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.
Academic Article Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
Academic Article Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.
Academic Article Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome.
Academic Article Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes.
Academic Article Chromosome 22q11.2 deletion syndrome: DiGeorge syndrome/velocardiofacial Syndrome.
Academic Article CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, ear anomalies/deafness) syndrome and chromosome 22q11.2 deletion syndrome: a comparison of immunologic and nonimmunologic phenotypic features.
Academic Article Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred.
Academic Article Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Academic Article Clinical conditions associated with PCP in children.
Academic Article A patient with X-linked dyskeratosis congenita presenting with bronchiolitis obliterans requiring lung transplantation and immunodeficiency.
Academic Article Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.
Academic Article 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).
Academic Article A single-center study of hematopoietic stem cell transplantation for primary immune deficiencies (PIDD).
Academic Article The diverse clinical features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome).
Academic Article Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
Academic Article Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
Academic Article Immunologic features of Cornelia de Lange syndrome.
Academic Article Terminal deletion of 11q with significant late-onset combined immune deficiency.
Academic Article ICON: the early diagnosis of congenital immunodeficiencies.
Academic Article The intersection of immune deficiency and autoimmunity.
Academic Article Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.
Academic Article The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Academic Article Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
Academic Article B cell development in chromosome 22q11.2 deletion syndrome.
Academic Article 22q11.2 deletion syndrome.
Academic Article Severe, persistent, and fatal T-cell immunodeficiency following therapy for infantile leukemia.
Academic Article Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies.
Academic Article Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.
Academic Article Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.
Academic Article Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
Academic Article Inflammatory Bowel Disease in Primary Immunodeficiencies.
Academic Article Emerging Infections and Pertinent Infections Related to Travel for Patients with Primary Immunodeficiencies.
Academic Article T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.
Academic Article Inhibition of rubella virus replication by the broad-spectrum drug nitazoxanide in cell culture and in a patient with a primary immune deficiency.
Academic Article Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease.
Academic Article Pediatric healthcare costs for patients with 22q11.2 deletion syndrome.
Academic Article The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Academic Article International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity.
Academic Article Complications Associated with Underweight Primary Immunodeficiency Patients: Prevalence and Associations Within the USIDNET Registry.
Academic Article Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry.
Academic Article The immune deficiency of chromosome 22q11.2 deletion syndrome.
Academic Article Autosomal Dominant Hyper-IgE Syndrome in the USIDNET Registry.
Academic Article Monogenic lupus: it's all new!
Academic Article Nitazoxanide May Modify the Course of Progressive Multifocal Leukoencephalopathy.
Academic Article Variable immune deficiency related to deletion size in chromosome 22q11.2 deletion syndrome.
Academic Article Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Academic Article Low Rates of Poliovirus Antibodies in Primary Immunodeficiency Patients on Regular Intravenous Immunoglobulin Treatment.
Academic Article Chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.
Academic Article Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders.
Academic Article Immune Biomarkers of Autoimmunity in Chromosome 22q11.2 Deletion Syndrome.
Academic Article Neutropenia as a sign of immunodeficiency.
Academic Article Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma.
Academic Article Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Academic Article Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
Academic Article Increased T-cell counts in patients with 22q11.2 deletion syndrome who have anxiety.
Academic Article The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.
Academic Article Multisystem inflammatory syndrome in children and COVID-19 are distinct presentations of SARS-CoV-2.
Academic Article Convalescent plasma for pediatric patients with SARS-CoV-2-associated acute respiratory distress syndrome.
Academic Article Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
Academic Article Relationship Between Severity of T Cell Lymphopenia and Immune Dysregulation in Patients with DiGeorge Syndrome (22q11.2 Deletions and/or Related TBX1 Mutations): a USIDNET Study.
Academic Article Infection Phenotypes Among Patients with Primary Antibody Deficiency Mined from a US Patient Registry.
Academic Article Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation.
Academic Article Diagnostic Challenges in Pediatric Hemophagocytic Lymphohistiocytosis.
Academic Article Therapeutic options for CTLA-4 insufficiency.
Academic Article Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.
Academic Article Chromatin Modifications in 22q11.2 Deletion Syndrome.
Academic Article The relevance of primary immunodeficiency registries on a global perspective.
Academic Article Proteomic profiling of MIS-C patients indicates heterogeneity relating to interferon gamma dysregulation and vascular endothelial dysfunction.
Academic Article Hematologic abnormalities in Aicardi Gouti?res Syndrome.
Academic Article Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Academic Article Immunologic, Molecular, and Clinical Profile of Patients with Chromosome 22q11.2 Duplications.
Academic Article Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Academic Article Ocular Manifestations in Primary Immunodeficiency Disorders: A Report From the United States Immunodeficiency Network (USIDNET) Registry.
Academic Article SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia.
Academic Article The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
Academic Article Rapid infusion of sodium bicarbonate and albumin into high-risk premature infants soon after birth: a controlled, prospective trial.
Academic Article Updated clinical practice recommendations for managing adults with 22q11.2 deletion syndrome.
Academic Article Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity.
Academic Article 22q11.2 Deletion and Duplication Syndromes and COVID-19.
Academic Article Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Academic Article Risk Factors of Pneumonia in Primary Antibody Deficiency Patients Receiving Immunoglobulin Therapy: Data from the US Immunodeficiency Network (USIDNET).
Academic Article Updated clinical practice recommendations for managing children with 22q11.2 deletion syndrome.
Academic Article Kagami Ogata syndrome: a small deletion refines critical region for imprinting.
Academic Article Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Academic Article A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency.
Academic Article Emapalumab for the treatment of refractory cytokine release syndrome in pediatric patients.
Academic Article Who's your data? Primary immune deficiency differential diagnosis prediction via machine learning and data mining of the USIDNET registry.
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