| Item Type | Name |
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Concept
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Mutation
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Concept
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Frameshift Mutation
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Concept
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Germ-Line Mutation
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Concept
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Mutation, Missense
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Academic Article
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A potential screening tool for IPEX syndrome.
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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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Novel mutation in STXBP2 prevents IL-2-induced natural killer cell cytotoxicity.
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Academic Article
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Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS.
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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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The voltage-gated calcium channel blocker lomerizine is neuroprotective in motor neurons expressing mutant SOD1, but not TDP-43.
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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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Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.
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Academic Article
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Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations.
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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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Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects.
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Academic Article
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Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease.
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Academic Article
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A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
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Academic Article
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Correction: A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.
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Academic Article
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European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.
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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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Global systematic review of primary immunodeficiency registries.
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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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Palmoplantar keratoderma with deafness phenotypic variability in a patient with an inherited GJB2 frameshift variant and novel missense variant.
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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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Immune Dysregulation in Human ITCH Deficiency Successfully Treated with Hematopoietic Cell Transplantation.
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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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Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency.
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Academic Article
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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
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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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A Registry Study of 240 Patients with X-Linked Agammaglobulinemia Living in the USA.
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