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Sullivan, Kathleen

One or more keywords matched the following items that are connected to Sullivan, Kathleen

Item Type	Name
Concept	Phenotype
Academic Article	Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency.
Academic Article	Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).
Academic Article	X-linked lymphoproliferative syndrome: an X-cellent question.
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	Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
Academic Article	Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
Academic Article	Terminal deletion of 11q with significant late-onset combined immune deficiency.
Academic Article	The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Academic Article	B cell development in chromosome 22q11.2 deletion syndrome.
Academic Article	Two Sides of the Same Coin: Pediatric-Onset and Adult-Onset Common Variable Immune Deficiency.
Academic Article	The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies.
Academic Article	Monogenic lupus: it's all new!
Academic Article	Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
Academic Article	Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
Academic Article	A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
Academic Article	The Unique Disease Course of Children with Very Early onset-Inflammatory Bowel Disease.
Academic Article	Early-Onset Inflammatory Bowel Disease.
Academic Article	X-linked agammaglobulinemia (XLA):Phenotype, diagnosis, and therapeutic challenges around the world.
Academic Article	Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification.
Academic Article	North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition Position Paper on the Evaluation and Management for Patients With Very Early-onset Inflammatory Bowel Disease.
Academic Article	Infection Phenotypes Among Patients with Primary Antibody Deficiency Mined from a US Patient Registry.
Academic Article	Infectious Complications Predict Premature CD8+ T-cell Senescence in CD40 Ligand-Deficient Patients.
Academic Article	Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
Academic Article	The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee.
Academic Article	Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.
Academic Article	Ruxolitinib: Targeted Approach for Treatment of Autoinflammatory Very Early Onset Inflammatory Bowel Disease.
Academic Article	The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity.
Academic Article	Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee.
Academic Article	Rubella virus chronic inflammatory disease and other unusual viral phenotypes in inborn errors of immunity.

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