| Item Type | Name |
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Academic Article
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Autoimmunity and inflammation in X-linked agammaglobulinemia.
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Academic Article
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Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry.
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Concept
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Infant
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Concept
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Infant, Newborn
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Concept
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Infant, Premature, Diseases
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Academic Article
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Diminished T cell numbers in patients with chronic granulomatous disease.
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Academic Article
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T-cell homeostasis in humans with thymic hypoplasia due to chromosome 22q11.2 deletion syndrome.
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Academic Article
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Primary care and primary immunodeficiencies.
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Academic Article
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Unmasking Evans syndrome: T-cell phenotype and apoptotic response reveal autoimmune lymphoproliferative syndrome (ALPS).
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Academic Article
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The chronicles of chronic granulomatous disease.
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Academic Article
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Immune abnormalities are a frequent manifestation of Kabuki syndrome.
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Academic Article
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Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome).
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Academic Article
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Anguish over angiopathy: hemolytic uremic syndrome.
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Academic Article
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Hypogammaglobulinemia in a pediatric tertiary care setting.
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Academic Article
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DiGeorge syndrome/velocardiofacial syndrome: the chromosome 22q11.2 deletion syndrome.
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Academic Article
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Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.
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Academic Article
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Use of sirolimus in IPEX and IPEX-like children.
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Academic Article
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Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs.
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Academic Article
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Treatment with sirolimus results in complete responses in patients with autoimmune lymphoproliferative syndrome.
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Academic Article
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Immune dysregulation in severe influenza.
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Academic Article
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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.
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Academic Article
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Myeloid differentiation primary response gene 88 (MyD88) deficiency in a large kindred.
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Academic Article
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Age-related trends in pediatric B-cell subsets.
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Academic Article
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Clinical conditions associated with PCP in children.
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Academic Article
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Immunoglobulin deficiencies: the B-lymphocyte side of DiGeorge Syndrome.
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Academic Article
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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).
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Academic Article
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A single-center study of hematopoietic stem cell transplantation for primary immune deficiencies (PIDD).
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Academic Article
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Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.
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Academic Article
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A prospective study of chemotherapy immunologic effects and predictors of humoral influenza vaccine responses in a pediatric oncology cohort.
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Academic Article
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Adoptive transfer of autologous T cells improves T-cell repertoire diversity and long-term B-cell function in pediatric patients with neuroblastoma.
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Academic Article
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Primary Immune Deficiency Treatment Consortium (PIDTC) report.
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Academic Article
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Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency.
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Academic Article
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Immunologic features of Cornelia de Lange syndrome.
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Academic Article
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ICON: the early diagnosis of congenital immunodeficiencies.
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Academic Article
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Exome sequencing analysis reveals variants in primary immunodeficiency genes in patients with very early onset inflammatory bowel disease.
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Academic Article
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Transplantation outcomes for severe combined immunodeficiency, 2000-2009.
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Academic Article
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Health care utilization by patients with common variable immune deficiency defined by International Classification of Diseases, Ninth Revision code 279.06.
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Academic Article
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A de novo whole gene deletion of XIAP detected by exome sequencing analysis in very early onset inflammatory bowel disease: a case report.
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Academic Article
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Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.
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Academic Article
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22q11.2 deletion syndrome.
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Academic Article
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Rubella persistence in epidermal keratinocytes and granuloma M2 macrophages in patients with primary immunodeficiencies.
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Academic Article
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Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.
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Academic Article
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Immunodeficiencies Associated with Abnormal Newborn Screening for T Cell and B Cell Lymphopenia.
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Academic Article
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Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency.
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Academic Article
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T-cell lymphopenia in 22q11.2 deletion syndrome: Relationship to cardiac disease.
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Academic Article
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Immune reconstitution and survival of 100 SCID patients post-hematopoietic cell transplant: a PIDTC natural history study.
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Academic Article
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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.
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Academic Article
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Renal Disease in Chronic Granulomatous Disease: Data from the USIDNET Registry.
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Academic Article
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Mevalonate kinase deficiency presenting as recurrent rectal abscesses and perianal fistulae.
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Academic Article
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Allogeneic hematopoietic stem cell transplantation in adolescent patients with chronic granulomatous disease.
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Academic Article
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Hematopoietic stem cell transplantation for CD40 ligand deficiency: Results from an EBMT/ESID-IEWP-SCETIDE-PIDTC study.
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Academic Article
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Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma.
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Academic Article
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Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.
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Academic Article
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Hematopoietic Cell Transplantation in Patients With Primary Immune Regulatory Disorders (PIRD): A Primary Immune Deficiency Treatment Consortium (PIDTC) Survey.
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Academic Article
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Excellent outcomes following hematopoietic cell transplantation for Wiskott-Aldrich syndrome: a PIDTC report.
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Academic Article
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The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome.
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Academic Article
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The scary world of variants of uncertain significance (VUS): A?hitchhiker's guide to interpretation.
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Academic Article
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Global systematic review of primary immunodeficiency registries.
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Academic Article
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Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID) in the US Immunodeficiency Network (USIDNet) Registry.
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Academic Article
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Coronavirus disease 2019 in patients with inborn errors of immunity: An international study.
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Academic Article
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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.
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Academic Article
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Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management.
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Academic Article
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Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.
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Academic Article
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Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.
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Academic Article
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Therapeutic options for CTLA-4 insufficiency.
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Academic Article
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Distinct immune trajectories in patients with chromosome 22q11.2 deletion syndrome and immune-mediated diseases.
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Academic Article
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Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
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Academic Article
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Self-Limited COVID-19 in a Patient with Artemis Hypomorphic SCID.
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Academic Article
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Hematologic abnormalities in Aicardi Gouti?res Syndrome.
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Academic Article
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The diagnosis of severe combined immunodeficiency: Implementation of the PIDTC 2022 Definitions.
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Academic Article
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Rapid infusion of sodium bicarbonate and albumin into high-risk premature infants soon after birth: a controlled, prospective trial.
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Academic Article
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X-Linked Agammaglobulinemia: Infection Frequency and Infection-Related Mortality in the USIDNET Registry.
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Academic Article
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Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium.
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Academic Article
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A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA.
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Academic Article
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Immune urinary biomarkers predict infant cardiac surgery-associated acute kidney injury.
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