scholarly journals Reversion Mosaicism in Primary Immunodeficiency Diseases

2021 ◽  
Vol 12 ◽  
Author(s):  
Hanae Miyazawa ◽  
Taizo Wada
Keyword(s):  
Primary Immunodeficiency ◽  
Biological Effects ◽  
Neutral Loss ◽  
Genetic Disorders ◽  
Intragenic Recombination ◽  
Wild Type ◽  
Primary Immunodeficiency Diseases ◽  
Genetic Changes ◽  
Immunodeficiency Diseases ◽  
Somatic Reversion

Reversion mosaicism has been reported in an increasing number of genetic disorders including primary immunodeficiency diseases. Several mechanisms can mediate somatic reversion of inherited mutations. Back mutations restore wild-type sequences, whereas second-site mutations result in compensatory changes. In addition, intragenic recombination, chromosomal deletions, and copy-neutral loss of heterozygosity have been demonstrated in mosaic individuals. Revertant cells that have regained wild-type function may be associated with milder disease phenotypes in some immunodeficient patients with reversion mosaicism. Revertant cells can also be responsible for immune dysregulation. Studies identifying a large variety of genetic changes in the same individual further support a frequent occurrence of reversion mosaicism in primary immunodeficiency diseases. This phenomenon also provides unique opportunities to evaluate the biological effects of restored gene expression in different cell lineages. In this paper, we review the recent findings of reversion mosaicism in primary immunodeficiency diseases and discuss its clinical implications.

scholarly journals Cost-minimization analysis of immunoglobulin treatment of primary immunodeficiency diseases in Spain

2021 ◽  
Author(s):  
Laia Alsina ◽  
J. Bruno Montoro ◽  
Pedro Moral Moral ◽  
Olaf Neth ◽  
Marta Ortiz Pica ◽  
...  
Keyword(s):  
Primary Immunodeficiency ◽  
Cost Minimization ◽  
Genetic Disorders ◽  
Sensitivity Analyses ◽  
Base Case ◽  
Primary Immunodeficiency Diseases ◽  
System Perspective ◽  
Immunodeficiency Diseases ◽  
Training Costs ◽  
Lost Productivity

AbstractPrimary immunodeficiency diseases (PID), which are comprised of over 400 genetic disorders, occur when a component of the immune system is diminished or dysfunctional. Patients with PID who require immunoglobulin (IG) replacement therapy receive intravenous IG (IVIG) or subcutaneous IG (SCIG), each of which provides equivalent efficacy. We developed a cost-minimization model to evaluate costs of IVIG versus SCIG from the Spanish National Healthcare System perspective. The base case modeled the annual cost per patient of IVIG and SCIG for the mean doses (per current expert clinical practice) over 1 year in terms of direct (drug and administration) and indirect (lost productivity for adults and parents/guardians of pediatric patients) costs. It was assumed that all IVIG infusions were administered in a day hospital, and 95% of SCIG infusions were administered at home. Drug costs were calculated from ex-factory prices obtained from local databases minus the mandatory deduction. Costs were valued on 2018 euros. The annual modeled costs were €4,266 lower for patients with PID who received SCIG (total €14,466) compared with those who received IVIG (total €18,732). The two largest contributors were differences in annual IG costs as a function of dosage (– €1,927) and hospital administration costs (– €2,688). However, SCIG incurred training costs for home administration (€695). Sensitivity analyses for two dose-rounding scenarios were consistent with the base case. Our model suggests that SCIG may be a cost-saving alternative to IVIG for patients with PID in Spain.

scholarly journals Allergic Manifestation in Paediatric Patients with Primary Immunodeficiency Diseases

2020 ◽  
pp. e442
Author(s):  
Joanna Pawłowska ◽  
Agnieszka Sobocińska ◽  
Izabela Kałuzińska-Parzyszek ◽  
Joanna Jerzyńska ◽  
Agnieszka Brzozowska
Keyword(s):  
Allergic Rhinitis ◽  
Atopic Dermatitis ◽  
Primary Immunodeficiency ◽  
Genetic Disorders ◽  
Clinical History ◽  
Allergic Diseases ◽  
Health Impact ◽  
Primary Immunodeficiency Diseases ◽  
Serum Ige ◽  
Immunodeficiency Diseases

Introduction. Primary immunodeficiency diseases (PID) are a diverse group of rare genetic disorders that affect the development and/or function of the immune system. Affected individuals are predisposed to an increased rate and severity of infections, allergy, autoimmunity and malignancy. Primary immunodeficiency diseases are considered rare; physicians and general practitioners have little knowledge about the clinical presentation, diagnostic approach and health impact of PID. Many PID patients have a clinical history in favour of allergic diseases. Nevertheless, in these patients, the importance and prevalence of atopic disorders have not been completely explained. Aim. The aim of this study was to evaluate atopic presentations, including atopic dermatitis, allergic rhinitis and asthma in a group of PID patients under the care of our clinic. Material and Methods. Fifty-seven pediatric patients with PID primary immunodeficiency diseases were enrolled from March 2018 to April 2019. Serum IgE levels were measured. Information regarding the patient’s history of allergic diseases, including asthma, allergic rhinitis and atopic dermatitis were analysed. Results and Conclusions. Confirmed allergy/asthma was found in 40 patients (70%). Thirty-eight patients (66.7%) had a diagnosis of asthma, 7 patients (12.3%) of allergic rhinitis and 13 (22.8%) of atopic dermatitis. Serum IgE total level was elevated in 12 patients (21%).

scholarly journals Az elsődleges immunhiány-betegségek bőrmanifesztációi

2018 ◽  
Vol 159 (23) ◽  
pp. 937-947
Author(s):  
Adrienn Erzsébet Bojtor ◽  
Miklós Sárdy ◽  
László Maródi
Keyword(s):  
Early Childhood ◽  
Primary Immunodeficiency ◽  
Fungal Infections ◽  
Genetic Disorders ◽  
Primary Immunodeficiency Diseases ◽  
Cutaneous Manifestations ◽  
Inflammatory Disorders ◽  
Dermatological Diseases ◽  
Immunodeficiency Diseases

Abstract: Primary immunodeficiency diseases (PIDs) are inherited, genetic disorders. The majority of PIDs are diagnosed in infancy or early childhood, but manifestation in adulthood may also occur. Frequent, recurrent and prolonged infections, which respond poorly to treatment may be heralding signs. PID patients may have increased suspectibility to infections, that mostly affect the sino-pulmonary and intestinal tracts and the skin. PIDs are also frequently associated with autoimmune and inflammatory disorders. Cutaneous manifestations affect 40% to 70% of patients with diagnosed PID. Bacterial and fungal infections of the skin, recurrent pyogen abscesses are common complications. Severe atopy, eczema and erythroderma occurring early in childhood should raise awareness of PID. Cutaneous granulomas, pigment changes and dysplasia of skin, hair, and nails can also be seen frequently in some of these conditions. Here we overview the most frequent dermatological diseases occuring in patients with PID. Orv Hetil. 2018; 159(23): 937–947.

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