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Rare and hereditary disorders
Primary immunodeficiencies (severe)
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Publications and studies (2085)
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Systemic AA Amyloidosis Secondary to Chronic Bronchiectasis and Primary Immunodeficiency: A Case Report. (2025/07/26) ♡
- Dock8 regulates Th2 cell differentiation through ANXA1. (2025/07/23) ♡
- 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. Safety and Efficacy of Immune Checkpoint Inhibitors in Human Immunodeficiency Virus-Associated Cancer: A Systematic Scoping Review. (2025/07/22) ♡
- 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. Non-Celiac Villous Atrophy-A Problem Still Underestimated. (2025/07/13) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Selective IgA Deficiency Complicated with Pernicious Anemia Diagnosed After Febrile Non-Hemolytic Transfusion Reaction. (2025/07/09) ♡
- Autoantibodies neutralizing type I interferons remain a significant risk factor for critical COVID-19 pneumonia in vaccinated patients. (2025/07/01) ♡
- Nutritional status and metabolic alterations in patients with ataxia-telangiectasia. (2025/07/01) ♡
- Time to a tuberculosis treatment cure and its predictors among tuberculosis patients at public health facilities in Arba minch town, South Ethiopia: A retrospective cohort study. (2025/07/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Ocular syphilis in antibiotic era. (2025/07/01) ♡
- A patient with complete IFN-γR1 deficiency and tuberculosis resembling BCG disease. (2025/06/13) ♡
- 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. The roles of vitamin C in infectious diseases: A comprehensive review. (2025/06/01) ♡
- 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. COVID-19 infection in inborn errors of immunity and their phenocopies: a systematic review and meta-analysis. (2025/06/01) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update. (2025/06/01) ♡
- Hereditary angioedema plasma proteomics following specific plasma kallikrein inhibition with lanadelumab. (2025/05/09) ♡
- Prevalence and predictors of unsuccessful tuberculosis treatment outcomes among persons with TB/HIV co-infection in Ghana: a 10-year retrospective study. (2025/05/06) ♡
- On-demand treatment of hereditary angioedema attacks: Patient-reported utilization, barriers, and outcomes. (2025/05/01) ♡
- Methamphetamine and HIV-1 Tat Protein Synergistically Induce Endoplasmic Reticulum Stress to Promote TRIM13-Mediated Neuronal Autophagy. (2025/05/01) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. NF-κB pathway variants in Iranian patients with inborn errors of immunity. (2025/05/01) ♡
- 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. The Use of Bone Marrow Transplantation (BMT) or Hematopoietic Stem Cell Transplantation (HSCT) in Pediatric Patients Diagnosed With Ataxia-Telangiectasia: A Systematic Review. (2025/05/01) ♡
- Malnutrition drives infection susceptibility and dysregulated myelopoiesis that persists after refeeding intervention. (2025/04/25) ♡
- Use of Immune Modulating Agents to Regulate Hyperinflammation in Severe COVID 19: Assessment of Tocilizumab Use in Combination with Steroids. (2025/04/24) ♡
- 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. Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency. (2025/04/15) ♡
- The 2024 update of IUIS phenotypic classification of human inborn errors of immunity. (2025/04/15) ♡
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee. (2025/04/15) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP. (2025/04/08) ♡
- Thymic and T-cell intrinsic critical roles associated with severe combined immunodeficiency and Omenn syndrome due to a heterozygous variant (G201R) in PSMB10. (2025/04/01) ♡
- Treatment guidelineiAn official agreement between doctors about how this disease should be treated. This is not a single study but the conclusion of an entire medical field. Clinical practice guideline for the evaluation, treatment, and follow-up of children in contact with patients with pulmonary tuberculosis in Colombia. (2025/03/30) ♡
- 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. Food Is Medicine for Human Immunodeficiency Virus: Improved Health and Hospitalizations in the Changing Health Through Food Support (CHEFS-HIV) Pragmatic Randomized Trial. (2025/03/17) ♡
- 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. Pediatric herpes zoster: should I be concerned for immunodeficiency? A review. (2025/03/14) ♡
- BCG vaccination in children with severe combined immunodeficiency in a tertiary center: evaluation of complications and risks. (2025/03/01) ♡
- 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. Interplay between on-demand treatment trials for hereditary angioedema and treatment guidelines. (2025/03/01) ♡
- 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. Update on inborn errors of immunity. (2025/03/01) ♡
- 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. Innate lymphoid cells in HIV pathogenesis and in the human female genital tract. (2025/03/01) ♡
- 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. Evaluation of Inborn Errors of Immunity Among Patients with Opportunistic Pulmonary Infection. (2025/03/01) ♡
- The Role of Diet in Tympanostomy Tube Otorrhea. (2025/03/01) ♡
- 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. Pitavastatin Is Well-Tolerated With no Detrimental Effects on Physical Function. (2025/02/24) ♡
- Clinical trialiResearch in patients, without randomization between groups. Useful, but less certain than a randomized trial. Real-World Effectiveness of Lanadelumab in Hereditary Angioedema: Multicountry INTEGRATED Observational Study. (2025/02/01) ♡
- 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. Ptosis in human immunodeficiency virus-infected patients under long-term antiretroviral treatment. (2025/02/01) ♡
- Implementation of digital HIV services in Guangzhou's primary health-care system, China. (2025/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. A Patient With NEMO Deficiency, Disseminated M. szulgai, and Post-HSCT Inflammatory Disease. (2025/02/01) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. X-Linked CGD Chorioretinitis in Two Young Girls. (2025/01/31) ♡
- 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 and risk factors of under-five mortality due to severe acute malnutrition in Africa: a systematic review and meta-analysis. (2025/01/30) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Intestinal obstruction caused by disseminated mycobacterium avium complex disease following solid organ transplantation: a case report. (2025/01/25) ♡
- Piloting an automated query and scoring system to facilitate APDS patient identification from health systems. (2025/01/21) ♡
- 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-related immunological mechanisms and pharmacological therapy alternatives in periodontitis. (2025/01/21) ♡
- Infectious outcomes of a standardized subcutaneous immunoglobulin dose reduction strategy in primary immune deficiencies amid global shortage. (2025/01/20) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Expert insights on Hodgkin's lymphoma development in an activated PI3K delta syndrome patient undergoing leniolisib treatment. (2025/01/13) ♡
- Cognitive dissonance as a reason for low perceived HIV risk among Black women. (2025/01/10) ♡
- Assessment of the knowledge, attitudes, and risk perceptions of pharmacy students regarding HIV/AIDS. (2025/01/08) ♡
- Description of individual patientsiThe story of one or a couple of patients. Informative, but you cannot infer from it whether something works in general. Dual in vivo T cell depleted haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide and anti-thymocyte globulin as a third salvage transplant for leukocyte adhesion deficiency with graft failure: a case report. (2025/01/08) ♡
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