• A Fast Association Test for Identifying Pathogenic Variants Involved in Rare Diseases
• A homozygous mutation in the stem II domain of <em>RNU4ATAC</em> causes typical Roifman syndrome
• A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome
• A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside
• A syndrome of immunodeficiency, autoimmunity, and spondylometaphyseal dysplasia
• Abnormal differentiation of B cells and megakaryocytes in patients with Roifman syndrome
• Adenosine deaminase deficiency can present with features of Omenn syndrome
• Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs
• Aplastic anemia following varicella vaccine
• Ataxia Telangiectasia Diagnosed on Newborn Screening-Case Cohort of 5 Years' Experience
• Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
• B-cell immune deficiency in twin sisters expands the phenotype of MOPDI
• Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency
• Cardiac chamber hypertrophy following hematopoietic stem cell transplantation for primary immunodeficiency
• Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype
• CD3 delta immunodeficiency
• Characteristic scapular and rib changes on chest radiographs of children with ADA-deficiency SCIDS in the first year of life
• Clinical interpretation of variants identified in RNU4ATAC, a non-coding spliceosomal gene
• Combined de-novo mutation and non-random X-chromosome inactivation causing Wiskott-Aldrich syndrome in a female with thrombocytopenia
• Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11)
• Combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies and developmental delay: a new syndrome
• Comparison of the efficacy of IGIV-C, 10% (caprylate/chromatography) and IGIV-SD, 10% as replacement therapy in primary immune deficiency. A randomized double-blind trial
• Compound heterozygous mutations in the noncoding RNU4ATAC cause Roifman Syndrome by disrupting minor intron splicing
• Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
• Cost-effectiveness of clopidogrel, prasugrel and ticagrelor for dual antiplatelet therapy after acute coronary syndrome: a decision-analytic model
• De novo WNT5A-associated autosomal dominant Robinow syndrome suggests specificity of genotype and phenotype
• Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome
• Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish
• Defining combined immunodeficiency
• Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency
• Delineating the phenotype of RNU4ATAC-related spliceosomopathy
• Disruption of exon-bridging interactions between the minor and major spliceosomes results in alternative splicing around minor introns
• Dual loss of p110δ PI3-kinase and SKAP (KNSTRN) expression leads to combined immunodeficiency and multisystem syndromic features
• Each condition should be carefully studied, ideally with homogenous patient groups. Preface
• Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome
• Early-onset primary antibody deficiency resembling common variable immunodeficiency challenges the diagnosis of Wiedeman-Steiner and Roifman syndromes
• Economic assessment of different modalities of immunoglobulin replacement therapy
• Editorial for "Effect of Metabolic Dysfunction-Associated Fatty Liver Disease on Left Ventricular Deformation and Atrioventricular Coupling in Patients With Metabolic Syndrome Assessed by MRI"
• Efficacy and safety of home-based subcutaneous immunoglobulin replacement therapy in paediatric patients with primary immunodeficiencies
• Emergency treatment for ζ chain-associated protein of 70 kDa (ZAP70) deficiency
• Extending the critical regions for mutations in the non-coding gene <em>RNU4ATAC</em> in another patient with Roifman Syndrome
• Extending the critical regions for mutations in the non-coding gene RNU4ATAC in another patient with Roifman Syndrome
• Fatal combined immunodeficiency associated with heterozygous mutation in STAT1
• Fatal lung fibrosis associated with immunodeficiency and gonadal dysgenesis in 46XX sisters--a new syndrome
• Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations
• Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery
• Health-related quality of life and treatment satisfaction in North American patients with primary immunedeficiency diseases receiving subcutaneous IgG self-infusions at home
• Hematopoietic stem cell transplantation for CD3δ deficiency
• Hematopoietic stem cell transplantation for RelB deficiency
• Human T cell immunodeficiency: when signal transduction goes wrong
• Hypogonadotrophic hypogonadism in Roifman syndrome
• Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome
• Impact of COVID-19 Pandemic on Cardiovascular Testing in Asia: The IAEA INCAPS-COVID Study
• Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management
• Indications for hemopoietic stem cell transplantation
• Intravenous immunoglobulin treatment of immunodeficiency. Preface
• Is Roifman syndrome an X-linked ciliopathy with humoral immunodeficiency? Evidence from 2 new cases
• Left ventricular noncompaction cardiomyopathy in association with trisomy 13
• Long COVID-19: A Primer for Cardiovascular Health Professionals, on Behalf of the CCS Rapid Response Team
• Long-term immune reconstitution after matched unrelated hematopoietic stem cell transplantation for immunodeficiency
• Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation
• Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease
• Loss of U11 small nuclear RNA in the developing mouse limb results in micromelia
• Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations
• Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
• Management of primary antibody deficiency with replacement therapy: summary of guidelines
• Mapping the cellular origin and early evolution of leukemia in Down syndrome
• Matched unrelated bone marrow transplant for Omenn syndrome
• Microarray and RASopathy-disorder testing in fetuses with increased nuchal translucency
• Morbidity in an adenosine deaminase-deficient patient during 27 years of enzyme replacement therapy
• Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells
• Mutations in the RNA component of RNase mitochondrial RNA processing might cause Omenn syndrome
• New insights into minor splicing-a transcriptomic analysis of cells derived from TALS patients
• Noncompaction of the myocardium associated with Roifman syndrome
• Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in <em>ZAP70</em> and <em>RNF168</em>
• Novel mutations and hot-spots in patients with purine nucleoside phosphorylase deficiency
• Novel RAG1 mutation in a case of severe combined immunodeficiency
• Omenn syndrome is associated with mutations in DNA ligase IV
• Omenn syndrome: inflammation in leaky severe combined immunodeficiency
• Outcomes Among Patients Hospitalized With Non-COVID-19 Conditions Before and During the COVID-19 Pandemic in Alberta and Ontario, Canada
• Partial agenesis of the corpus callosum, hippocampal atrophy, and stable intellectual disability associated with Roifman syndrome
• Preface
• Primary Effusion Lymphoma (PEL)-Like Lymphoma in a Child With Congenital Immunodeficiency
• Primary immunodeficiencies associated with eosinophilia
• Primary immunodeficiencies: 2009 update
• Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee
• Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005
• Purine nucleoside phosphorylase deficiency associated with a dysplastic marrow morphology
• Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells
• Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome
• Roifman syndrome: a description of further immunological and radiological features
• Safety and efficacy of measles, mumps, and rubella vaccine in patients with DiGeorge syndrome
• Studies of patients' thymi aid in the discovery and characterization of immunodeficiency in humans
• Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
• The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
• The cognitive and behavioural phenotype of Roifman syndrome
• The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome
• The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
• Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency
• Underdiagnosed Roifman syndrome manifested as non-ischaemic cardiomyopathy: a case report