Primary immunodeficiencies (severe)
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Publications and studies (2086)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Vulnerability to Meningococcal Disease in Immunodeficiency Due to a Novel Pathogenic Missense Variant in NFKB1. (2021/12/24) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Multicomponent Strategy with Decentralized Molecular Testing for Tuberculosis. (2021/12/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Retinal Occlusive Vasculitis in a Patient with Hyperimmunoglobulin E Syndrome. (2021/12/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Somatic Reversion of a Novel IL2RG Mutation Resulting in Atypical X-Linked Combined Immunodeficiency. (2021/12/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Persistent Hypogammaglobulinemia More Than 10 Years After Rituximab Given Post-HSCT. (2021/12/22) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Analysis of Preserved Umbilical Cord Clarified X-Linked Anhidrotic Ectodermal Dysplasia With Immunodeficiency in Deceased, Undiagnosed Uncles. (2021/12/22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers. (2021/12/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: First Occurrence of Plasmablastic Lymphoma in Activated Phosphoinositide 3-Kinase δ Syndrome. (2021/12/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: Meningoencephalitis With Thrombotic Occlusive Vasculopathy in a Young EBV-Naïve Boy Is Associated With a Novel SH2D1A Mutation. (2021/12/20) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association. (2021/12/20) ♡
- Rubella Virus Infected Macrophages and Neutrophils Define Patterns of Granulomatous Inflammation in Inborn and Acquired Errors of Immunity. (2021/12/20) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Effectiveness of GeneXpert® in the diagnosis of tuberculosis in people living with HIV/AIDS. (2021/12/17) ♡
- Awareness of primary immunodeficiency diseases at a national pediatric reference center in Peru. (2021/12/17) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Establishing the Molecular Diagnoses in a Cohort of 291 Patients With Predominantly Antibody Deficiency by Targeted Next-Generation Sequencing: Experience From a Monocentric Study. (2021/12/17) ♡
- Common variable immunodeficiency: an important but little-known risk factor for gastric cancer. (2021/12/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ramsay-Hunt syndrome: Report of two cases with identification of the varicella zoster virus genome in cerebrospinal fluid. (2021/12/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency. (2021/12/15) ♡
- The place of scales and questionnaires in assessing the disease's severity and the long-term prophylaxis's prescribing in patients with hereditary angioedema. (2021/12/15) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. TNFRSF13B gene mutation in adult patient with common variable immunodeficiency. Case report. (2021/12/15) ♡
- Improving rural health services: The case of a family physician's contribution at Aber Hospital, Northern Uganda. (2021/12/13) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Creating Awareness for Primary Immunodeficiencies in Japan. (2021/12/13) ♡
- Craniofacial and Craniocervical Features in Cartilage-Hair Hypoplasia: A Radiological Study of 17 Patients and 34 Controls. (2021/12/10) ♡
- Evaluation of MicroRNA-125b-5p and Transcription Factors BLIMP1 and IRF4 Expression in Unsolved Common Variable Immunodeficiency Patients. (2021/12/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Disseminated Intravascular Coagulation Associated with Large Deletion of Immunoglobulin Heavy Chain. (2021/12/08) ♡
- Native CGRP Neuropeptide and Its Stable Analogue SAX, But Not CGRP Peptide Fragments, Inhibit Mucosal HIV-1 Transmission. (2021/12/08) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Angioedema Without Wheals: Challenges in Laboratorial Diagnosis. (2021/12/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Primary Immunodeficiency in a 74-Year-Old Male With Chronic Productive Cough: A Rare Case of Common Variable Immunodeficiency. (2021/12/08) ♡
- Randomized researchiParticipants were divided into groups by lottery and compared with each other. This reduces the chance that a difference is due to something other than the treatment. Cardiovascular Risk and Health Among People With Human Immunodeficiency Virus (HIV) Eligible for Primary Prevention: Insights From the REPRIEVE Trial. (2021/12/06) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Mechanistic understanding of the combined immunodeficiency in complete human CARD11 deficiency. (2021/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. From Your Nose to Your Toes: A Review of Severe Acute Respiratory Syndrome Coronavirus 2 Pandemic‒Associated Pernio. (2021/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Primary immunodeficiency and the microbiome. (2021/12/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Health status of women affected by homelessness: A cluster of in concreto human rights violations and a time for action. (2021/12/01) ♡
- An in-silico approach to design potential siRNAs against the ORF57 of Kaposi's sarcoma-associated herpesvirus. (2021/12/01) ♡
- Immune response pathways enriched in breast cancer samples with brain metastasis. (2021/12/01) ♡
- Impact of human immunodeficiency virus on 2-year revision rates following lumbar fusion for degenerative spinal conditions: a retrospective cohort study. (2021/12/01) ♡
- Transgenders are the most vulnerable amongst individuals engaging in receptive anal intercourse: A cross-sectional study from North India. (2021/12/01) ♡
- Systemic and Intestinal Viral Reservoirs in CD4+ T Cell Subsets in Primary SIV Infection. (2021/11/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Severe Combined Immunodeficiency with De Novo Duchenne Muscular Dystrophy Mutation. (2021/11/29) ♡
- Investigation of Cerebellar Abiotrophy (CA), Lavender Foal Syndrome (LFS), and Severe Combined Immunodeficiency (SCID) Variants in a Cohort of Three MENA Region Horse Breeds. (2021/11/26) ♡
- Darunavir/Cobicistat/Emtricitabine/Tenofovir Alafenamide Versus Dolutegravir/Abacavir/Lamivudine in Antiretroviral-Naive Adults (SYMTRI): A Multicenter Randomized Open-Label Study (PReEC/RIS-57). (2021/11/25) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. An Unusual Case of Concurrent Herpes Simplex Virus Type 1 and Cytomegalovirus Encephalitis Complicated by Primary Central Nervous System Lymphoma as an Initial Presentation of Acquired Immunodeficiency Syndrome. (2021/11/15) ♡
- Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation. (2021/11/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Combined immunodeficiency with marginal zone lymphoma due to a novel homozygous mutation in IL-21R gene and successful treatment with hematopoietic stem cell transplantation. (2021/11/01) ♡
- Review articleiA summary of what is known about a topic, written by experts. Not compiled according to fixed search rules, so the selection of studies may be biased. Known and potential molecules associated with altered B cell development leading to predominantly antibody deficiencies. (2021/11/01) ♡
- Effect of Dysphagia on Hospital Outcomes and Readmissions in Patients with Human Immunodeficiency Virus. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Novel SPINK5 Gene Mutation Associated with Netherton Syndrome in an Omani Patient. (2021/11/01) ♡
- [Primary HIV infection: a therapeutic emergency]. (2021/11/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Isolated Oculomotor Cranial Nerve Palsy as Unusual Presentation of Primary High-Grade Burkitt's Cell Lymphoma in HIV Patient: Case Report and Literature Review. (2021/10/27) ♡
- Impaired Memory B-Cell Response to Influenza Immunization in Patients With Common Variable Immunodeficiency (CVID). (2021/10/27) ♡
- Mendelian susceptibility to mycobacterial disease in tuberculosis-hyperendemic South Africa. (2021/10/05) ♡
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