primary immunodeficiencies
Recently Published Documents


TOTAL DOCUMENTS

807
(FIVE YEARS 211)

H-INDEX

51
(FIVE YEARS 10)

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Leire Solís ◽  
Julia Nordin ◽  
Johan Prevot ◽  
Nizar Mahlaoui ◽  
Silvia Sánchez-Ramón ◽  
...  

Abstract Background The “Primary Immunodeficiencies (PIDs) principles of care” were published in 2014 as the gold standard for care of patients with PIDs, setting a common goal for stakeholders to ensure that patients with PID have access to appropriate care and good quality of life. Since then, IPOPI (the International Patient Organisation for Primary Immunodeficiencies), has been working with national PID patient organisations as well as collaborating with scientific and medical institutions and experts to bring these principles closer to the day-to-day life of individuals with PIDs. Method The six PID Principles of Care were revised to consider advances in the field, as well as political developments that had occurred after their initial publication in 2014. Based on this revision the list was updated, and a new principle was added. The six established principles were: diagnosis, treatment, universal health coverage, specialised centres, national patient organisations and registries. Each principle was structured and measured through a series of criteria, and was given the same weight, as they have been considered to all be equally important. Specific weights were attributed to the criteria depending on their relevance and importance to quantify the principle. The index was translated into a survey for data collection: initially involving data from selected countries for a pilot, followed by integration of data from IPOPI’s national member organisations and key countries. Results The PID Life Index was developed in 2020 to assess the status of the PID environment and the implementation of the 6 principles worldwide. The Index allows for benchmarking countries either according to a set of principles and criteria or based on the user’s preferences. This can be displayed in an interactive map or through a data visualisation system. Conclusion The PID Life Index has been developed successfully and has potential to become an important source of information for PID stakeholders, to increase awareness and information as well as support advocacy initiatives on PIDs nationally, regionally or globally.


Author(s):  
Daniel A. Powell ◽  
Amy P. Hsu ◽  
Christine D. Butkiewicz ◽  
Hien T. Trinh ◽  
Jeffrey A. Frelinger ◽  
...  

Disseminated coccidioidomycosis (DCM), often a severe and refractory disease leading to poor outcomes, is a risk for people with certain primary immunodeficiencies (PID). Several DCM-associated PID (STAT4, STAT3, IFNγ, and Dectin-1) are modeled in mice. To determine if vaccination could provide these mice protection, mice with mutations in Stat4, Stat3, Ifngr1, Clec7a (Dectin-1), and Rag-1 (T- and B-cell deficient) knockout (KO) mice were vaccinated with the live, avirulent, Δcps1 vaccine strain and subsequently challenged intranasally with pathogenic Coccidioides posadasii Silveira strain. Two weeks post-infection, vaccinated mice of all strains except Rag-1 KO had significantly reduced lung and spleen fungal burdens (p<0.05) compared to unvaccinated control mice. Splenic dissemination was prevented in most vaccinated immunodeficient mice while all unvaccinated B6 mice and the Rag-1 KO mice displayed disseminated disease. The mitigation of DCM by Δcps1 vaccination in these mice suggests that it could also benefit humans with immunogenetic risks of severe disease.


Author(s):  
Abbas Khalili

Introduction: Primary immunodeficiencies (PID) are rare heterogeneous disorders with defects in which one or more components of the immune system are malfunctioning. Clinical presentations of the patients according to type of immunodeficiency are variable. The majority of these patients are susceptible to infections depending on the type of disorder. In these patients, one of the most important and common symptoms is a skin manifestation that in many cases helps to diagnose the disease. Skin symptoms can include infectious-inflammatory-autoimmune-allergic manifestations and malignancies. In some cases, skin involvement can be the initial manifestation of immunodeficiency diseases, so understanding the relationship between the type of primary immunodeficiency and the type of skin involvement is very important in diagnosing the disease. The majorities of skin diseases are not pathogenomonic in primary immunodeficiencies and may be seen in other diseases with normal levels of immunity. However, there are numerous skin findings that are so characteristic of immunodeficiency diseases that it is necessary to evaluate the immune system. Conclusion: Skin is an organ that may be involved in many diseases, including primary immunodeficiency. Sometimes skin is the first organ involved in immune deficiencies. Therefore, recognizing skin manifestations in these patients is one of the most important factors in early diagnosis of these people.


Author(s):  
Mitra Khalili ◽  
Hossein Farzi ◽  
Sepideh Darougar ◽  
Fatemeh Hajijoo ◽  
Mehrnaz Mesdaghi ◽  
...  

Respiratory diseases are considered as significant causes of morbidity and mortality in primary immunodeficiencies. This study aimed to reveal the radiologic patterns of thoracic involvement in these disorders. A total of 58 patients, including 38 cases with combined cellular-humoral and 20 cases with humoral immunodeficiencies, were enrolled in this study. The “combined” group consisted of 12 cases with severe combined immunodeficiency (SCID) and 26 cases with combined immunodeficiency. The “humoral” group included seven patients with Hyper IgM syndrome (HIGMs), seven cases with common variable immunodeficiency (CVID), three patients with X-linked agammaglobulinemia, and three patients with other types of humoral primary immunodeficiencies (PIDs). The mean age of patients at the time of evaluation was 3.3±3.8 and 5.3±3.9 years in combined and humoral groups, respectively. The findings of chest X-rays and CT scans were interpreted and compared. There was a significant difference for alveolar opacification between combined and humoral immunodeficiencies (58% vs. 30%). The bronchopneumonia-like pattern was detected as a significant finding in patients with SCID (42%) and HIGMs (43%). Atrophy of the thymus was detected significantly often in cases of SCID (67%). Two patients with CVID and lipopolysaccharide-responsive and beige-like anchor protein deficiency showed parenchymal changes of granulomatous lymphocytic interstitial lung disease. No significant difference was detected for bronchiectasis, bronchitis/bronchiolitis patterns, pleural effusion, and thoracic lymphadenopathy. lymphadenopathy. Distinct subtypes of primary immunodeficiency may provoke differing and comparable radiological patterns of thoracic involvement; which can clue the clinician and radiologist to the diagnosis of the disease.


Author(s):  
M.V. Vasilyeva ◽  
◽  
I.A. Sai ◽  

The urgency of the problem of primary immunodeficiencies (PID) lies in the late diagnosis of this pathology due to the low awareness of doctors of various specialties, the formation of chronic diseases in patients, and high mortality in this group of patients. Currently, the concept of PID includes both traditional concepts - defects leading to the development of quantitative and / or functional insufficiency, and new concepts - uncontrolled activation of the proliferation of immunocompetent cells and the formation of autoimmune, auto-inflammatory and allergic diseases. The article discusses the diagnostic criteria for PID and the main directions in the treatment of this contingent of patients


2021 ◽  
Vol 12 ◽  
Author(s):  
Michael Gernert ◽  
Matthias Kiesel ◽  
Matthias Fröhlich ◽  
Regina Renner ◽  
Patrick-Pascal Strunz ◽  
...  

BackgroundGenital human papillomavirus (HPV)-infections are common in the general population and are responsible for relevant numbers of epithelial malignancies. Much data on the HPV-prevalence is available for secondary immunodeficiencies, especially for patients with human immunodeficiency virus (HIV)-infection. Little is known about the genital HPV-prevalence in patients with primary immunodeficiencies (PIDs).MethodsWe performed a cross-sectional study of patients with PIDs and took genital swabs from male and female patients, which were analyzed with polymerase chain reaction for the presence of HPV-DNA. Clinical and laboratory data was collected to identify risk factors.Results28 PID patients were included in this study. 10 of 28 (35.7%) had HPV-DNA in their genital swabs. 6 patients had high-risk HPV-types (21.4%). Most patients had asymptomatic HPV-infections, as genital warts were rare (2 of 28 patients) and HPV-associated malignancy was absent. Differences in the HPV-positivity regarding clinical PID-diagnosis, duration of PID, age, sex, immunosuppression, immunoglobulin replacement, or circumcision in males were not present. HPV-positive PID patients had higher numbers of T cells (CD3+), of cytotoxic T cells (CD3+/CD8+), of transitional B cells (CD19+/CD38++/CD10+/IgD+), and of plasmablasts (CD19+/CD38+/CD27++/IgD-) compared to HPV-negative.ConclusionPID patients exhibit a high rate of genital HPV-infections with a high rate of high-risk HPV-types. Regular screening for symptomatic genital HPV-infection and HPV-associated malignancy in PID patients seems recommendable.


Sign in / Sign up

Export Citation Format

Share Document