| International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity |
134 |
| The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies |
93 |
| Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment |
38 |
| Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis |
25 |
| Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome |
25 |
| CAPS and NLRP3 |
22 |
| Regulatory T Cells: the Many Faces of Foxp3 |
18 |
| Inherited CARD9 Deficiency: Invasive Disease Caused by Ascomycete Fungi in Previously Healthy Children and Adults |
18 |
| Newborn Screening for Primary Immunodeficiency Diseases: History, Current and Future Practice |
16 |
| Autoimmune Cytopenias and Associated Conditions in CVID: a Report From the USIDNET Registry |
15 |
| Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome |
15 |
| Use of Genetic Testing for Primary Immunodeficiency Patients |
14 |
| RAG Deficiency: Two Genes, Many Diseases |
13 |
| Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review |
12 |
| Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation |
12 |
| Autosomal Recessive Agammaglobulinemia Due to a Homozygous Mutation in PIK3R1 |
11 |
| The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions |
11 |
| Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders |
11 |
| WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure |
10 |
| Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies |
10 |
| Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India |
10 |
| Genetic Deficiency and Biochemical Inhibition of ITK Affect Human Th Treg, and Innate Lymphoid Cells |
9 |
| Autoimmunity and Inflammation in CVID: a Possible Crosstalk between Immune Activation, Gut Microbiota, and Epigenetic Modifications |
9 |
| Successful Allogenic Stem Cell Transplantation in Patients with Inherited CARD9 Deficiency |
8 |
| Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study) |
8 |
| Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia |
8 |
| DDX58 and Classic Singleton-Merten Syndrome |
8 |
| A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12R beta 1 Deficiency |
8 |
| A Spectrum of Clinical Findings from ALPS to CVID: Several Novel LRBA Defects |
7 |
| Life-Threatening Infections Due to Live-Attenuated Vaccines: Early Manifestations of Inborn Errors of Immunity |
7 |
| Novel MALT1 Mutation Linked to Immunodeficiency, Immune Dysregulation, and an Abnormal T Cell Receptor Repertoire |
7 |
| Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency |
7 |
| Role of Allogeneic Hematopoietic Stem Cell Transplant for Chronic Granulomatous Disease (CGD): a Report of the United States Immunodeficiency Network |
7 |
| Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behcet-Like Phenotype and Persistent EBV Viremia |
7 |
| Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation |
7 |
| Treatment Satisfaction with Subcutaneous Immunoglobulin Replacement Therapy in Patients with Primary Immunodeficiency: a Pooled Analysis of Six Hizentra (R) Studies |
6 |
| Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2 |
6 |
| Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT |
6 |
| Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient |
6 |
| Prevalence of Granulomas in Patients With Primary Immunodeficiency Disorders, United States: Data From National Health Care Claims and the US Immunodeficiency Network Registry |
6 |
| A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017) |
6 |
| ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome |
6 |
| Low Serum IgE Is a Sensitive and Specific Marker for Common Variable Immunodeficiency (CVID) |
5 |
| Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction |
5 |
| Immunodeficiency in Bloom's Syndrome |
5 |
| Modulation of the Interleukin-21 Pathway with Interleukin-4 Distinguishes Common Variable Immunodeficiency Patients with More Non-infectious Clinical Complications |
5 |
| Long-Term Health Outcome and Quality of Life Post-HSCT for IL7R alpha Artemis RAG1-and RAG2-Deficient Severe Combined Immunodeficiency: a Single Center Report |
5 |
| A Unique Presentation of Infantile-Onset Colitis and Eosinophilic Disease without Recurrent Infections Resulting from a Novel Homozygous CARMIL2 Variant |
5 |
| Ficolin-3 Deficiency Is Associated with Disease and an Increased Risk of Systemic Lupus Erythematosus |
5 |
| Factors Beyond Lack of Antibody Govern Pulmonary Complications in Primary Antibody Deficiency |
5 |
