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Rare and hereditary disorders
Primary immunodeficiencies (severe)
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Publications and studies (2086)
- Campylobacter spp Bloodstream Infections in Immunocompetent vs Immunodeficient Patients: A Multinational Cohort Study (2009-2024). (2026/06/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Wiskott-Aldrich Syndrome With Severe Thrombocytopenia and Hemorrhagic Manifestations: A Case Report. (2026/06/23) ♡
- 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. Healthcare workers' perspectives on HIV pre-exposure prophylaxis delivery in Sub-Saharan Africa: implications for injectable formulation rollout-a narrative review. (2026/06/22) ♡
- ALPS-like Disorder Linked with STAT3 Mutation: De Novo Variant with Bicytopenia and Literature Review. (2026/06/22) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Safety and Immunogenicity of BNT162b2 in Antiretroviral Therapy-Treated People With HIV. (2026/06/21) ♡
- Pre-exposure Prophylaxis Outcomes in High-Risk Individuals in Saudi Arabia: A 48-Week Observational Cohort Study. (2026/06/21) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Cytomegalovirus Infection in an Extremely Preterm Infant: A Diagnostic Challenge. (2026/06/20) ♡
- Healthcare worker perspectives on barriers to integrating mental health services into human immunodeficiency virus care in Windhoek, Namibia: A convergent parallel mixed-methods design. (2026/06/18) ♡
- Meta-analysisiAll studies on one question combined and calculated together. This is the strongest form of research that exists: a single loose study can be coincidence, dozens together much less so. The label says something about the design, not about the outcome — which can also be that something does NOT work. Prevalence of Vitamin D Deficiency in Ataxia-Telangiectasia: A Systematic Review and Single Arm Meta-Analysis. (2026/06/15) ♡
- 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. Ataxia-Telangiectasia and Associated Bronchiectasis: Case Report and Literature Review. (2026/06/11) ♡
- GPR15-guided CD8(+) T regulatory cells control intestinal inflammation. (2026/06/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Clinical Manifestations and Genetic Findings in Three Patients with Chediak-Higashi Syndrome: Highlighting the Splice Site Variants. (2026/06/03) ♡
- Pharmacokinetic modelling of intravenous immunoglobulin in children with primary immunodeficiencies and secondary antibody deficiencies. (2026/06/01) ♡
- Abnormal immunoglobulin expression and B-cell follicle organization in inborn errors of immunity/primary immunodeficiency. (2026/06/01) ♡
- Primary Intestinal Lymphangiectasia as a cause of secondary combined immunodeficiency: case study and literature review. (2026/06/01) ♡
- Potential reasons for the decline of new HIV cases among people who inject drugs (PWID) in Kyrgyzstan. (2026/05/26) ♡
- Rates and Outcomes of Head and Neck Cancer Among Patients With Primary Immunodeficiency Disorders. (2026/05/22) ♡
- IRAK2 deficiency causes immune dysregulation through defective Myddosome assembly and enhanced interferon responses. (2026/05/21) ♡
- 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. Inborn errors of immunity: a structured model for paediatric-to-adult transition of care. (2026/05/11) ♡
- The association of methadone use with physical function and frailty among persons who inject drugs. (2026/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Risk factors associated with disease severity among children hospitalised with community-acquired pneumonia in Angola. (2026/04/30) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Effectiveness of yoga therapy as an adjunct on mental health status, quality of life, and medication adherence among people living with HIV on antiretroviral therapy: A study protocol of a randomized controlled trial (ART YOGA). (2026/04/27) ♡
- 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. Sphingosine Phosphate Lyase Insufficiency Syndrome. (2026/04/09) ♡
- Genomic Dissection of Pediatric Protein-Losing Enteropathy and Related Disorders: Clinical, Immunologic, and Therapeutic Insights. (2026/04/01) ♡
- Skeletal manifestations in lymphatic diseases: nonenhanced magnetic resonance lymphography. (2026/03/27) ♡
- Mast cell mediators in hereditary angioedema. (2026/03/14) ♡
- A high FIB-4 score may be an early sign of severe liver involvement in patients with primary antibody deficiencies. (2026/03/13) ♡
- The Relationship Between Peripheral Eosinophilia, Lower Respiratory Tract Pathogens, Age at First Pneumonia, and Malnutrition in Children with Non-cystic Fibrosis Bronchiectasis. (2026/03/12) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Probiotic improves respiratory and gastrointestinal health, immune homeostasis, and gut microbiota composition in infants: a randomized controlled trial. (2026/03/09) ♡
- The Experience of a Tertiary Reference Center in Central Anatolia with Children Carrying ZAP-70 Variants, Including Two Novel Variants. (2026/03/06) ♡
- Immunodeficiency-Associated Childhood Interstitial Lung Diseases: Data from the Türkiye chILD Registry. (2026/03/02) ♡
- 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 SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl. (2026/03/02) ♡
- Impact of Multidisciplinary Care Coordination on Health Care Utilization Among Patients Coinfected With Human Immunodeficiency Virus and Hepatitis C. (2026/03/01) ♡
- Long-term prophylactic treatment preferences and willingness to switch therapy in individuals with hereditary angioedema. (2026/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Refractory/Relapsed Hodgkin Lymphoma in Cartilage Hair Hypoplasia-Anauxetic Dysplasia Spectrum: Long-term HSCT-free Remission in 2 Pediatric Siblings. (2026/03/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Unveiling a novel NBAS mutation in common variable immunodeficiency: Expanding the genetic landscape of immunodeficiency disorders. (2026/03/01) ♡
- Early markers of baked milk and egg tolerance in young children with IgE-mediated immediate reactions. (2026/03/01) ♡
- Selective reactivation of latent HIV using CyclinT1-Tat-containing virus-like particles. (2026/03/01) ♡
- Non-traditional risk factors for myocardial infarction in adults under forty: A systematic review of emerging trends. (2026/02/26) ♡
- Primary Immunodeficiency Diseases with BCG-Induced Diseases: A 15-Year Longitudinal Cohort Study. (2026/02/26) ♡
- Primary Hemophagocytic Lymphohistiocytosis: A Severe Immune Dysregulatory Disease with Various Genotypic Features and Outcomes: A Cross-Sectional Study from a Tertiary Pediatric Center. (2026/02/20) ♡
- Clinical Characteristics of Children Diagnosed with Food Allergy at Ankara University. (2026/02/19) ♡
- Opinion: Why paediatric rheumatologists need to understand inborn errors of immunity. (2026/02/05) ♡
- 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. Immunoglobulin disorders in pediatric chronic rhinosinusitis. (2026/02/01) ♡
- 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. WHIM syndrome: from mechanism to targeted therapy - advances shaping clinical care. (2026/02/01) ♡
- Risk Factors for Hematopoietic Stem Cell Transplantation in Inborn Errors of Immunity. (2026/02/01) ♡
- Natural history of clinical manifestations in activated phosphoinositide 3-kinase δ syndrome (APDS): Time-to-event analyses using the European Society for Immunodeficiencies-APDS registry. (2026/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Pain management in patients with hereditary angioedema: A case report. (2026/01/23) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Epigenetic disruption meets immune deficiency: a case report of ICF syndrome linked to DNMT3B mutation. (2026/01/21) ♡
- Harmonisation of switched memory B cell analysis for improved CVID diagnosis and classification. (2026/01/13) ♡
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