Immunodeficiency Diseases: Update of Concepts and Management Recommendations

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Immunology".

Deadline for manuscript submissions: closed (22 May 2023) | Viewed by 5559

Special Issue Editors

Regional Reference Centre for Primary Immune Deficiencies, Azienda Ospedaliera Universitaria Policlinico Umberto I, 00185 Rome, Italy
Interests: primary immunodeficiency; secondary immunodeficiency; autoinflammatory diseases; vaccination; immunoglobulin therapy; autoimmunity; infection in immunodeficiencies; autoimmunity in immunodeficiencies; cancer in immunodeficiencies
Division of Pediatric Hematology, Oncology and Stem Cell Transplant, Padua University Hospital, 35128 Padua, Italy
Interests: pediatric intensive care units; pediatric hematology; immunology; primary immune deficiency; stem cell transplantation
1. Pediatric Clinic, Fondazione IRCCS Policlinico San Matteo, 27100 Pavia, Italy
2. Pediatric Unit, Department of Clinical, Surgical, Diagnostic, and Pediatric Sciences, University of Pavia, 27100 Pavia, Italy
Interests: clinical immunology; allergology; pediatrics; primary immunodeficiency; allergic diseases; inborn genetic diseases

Special Issue Information

Dear Colleagues,

Primary immunodeficiency disorders (PIDs) are rare inherited monogenic disorders of the immune system, characterized by an increased risk of infection, immune dysregulation and malignancies. More than 400 PIDs have been identified to date.

Although PIDs are more common during childhood, they can affect both adults and children, with great impacts in terms of survival and quality of life.

In recent years, advances in diagnostic genetic technologies have greatly improved our understanding of underlying immunological and genetic defects, causing new discoveries and adding new complexities to the care of patients with PIDs.

In particular, the introduction of high-throughput sequencing technologies allowed affected genes to be rapidly identified, leading to improved diagnosis and classification with the identification of novel pathogenic mechanisms and candidate targets for precision treatments.

Targeted therapies are especially effective in managing immune dysregulation and autoimmunity in PID-related conditions, which also reduces the incidence of side effects compared to conventional treatments and decreases the use of steroids and immunosuppressive drugs. Moreover, advances in the use of gene therapy for selected PIDs introduced the benefit of correcting immunological defects, with a more favourable risk profile in comparison to haematopoietic stem cell transplants.

In recent years, the approaches to consolidated therapies, such as immunoglobulin replacement treatment, have also evolved, leading to individualized strategies to both improve infection control and minimize the burden of treatment.

Lastly, as life expectancy for patients with PIDs has increased in recent years, many patients shift from paediatric to adult healthcare services, leading to a greater emphasis on the importance of the transition process.

The goal of this Special Issue is to offer an update on state-of-the-art innovations, outlining the recent developments and core accomplishments that have been achieved in the diagnosis and treatment of PID, shedding light on the current and emerging management approaches for the lifelong care of patients from childhood through to adulthood.

We seek original research, reviews, mini-reviews, methods, and perspective articles addressing, but not limited to, the following topics:

  • Molecular defects in PID;
  • Diagnostics achievements;
  • Screening in PID;
  • Therapeutic strategies of different PID;
  • Infection management in PID;
  • Immunization in PID;
  • Targeted therapy in PID;
  • Gene editing and gene therapy in PIDs;
  • New approaches to consolidate treatments;
  • Transition care;
  • Strategies to improve quality of life in PID.

Dr. Federica Pulvirenti
Dr. Antonio Marzollo
Dr. Riccardo Castagnoli
Guest Editors

Manuscript Submission Information

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Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2600 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • new primary immunodeficiencies
  • diagnosis of primary immunodeficiencies
  • screening
  • immunodeficiency disorders with immune dysregulation
  • immunodeficiency and dysregulation
  • new therapies for primary immunodeficiencies
  • genetic therapy for primary immunodeficiencies
  • transition care
  • immunoglobulin treatment
  • quality of life
  • targeted therapy
  • precision medicine
  • haematopoietic stem cell transplantation
  • antibiotic prophylaxis
  • immunization in primary immunodeficiencies

Published Papers (4 papers)

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10 pages, 278 KiB  
Article
Points to Consider in Health Assessment of Adult Patients with Primary Antibody Deficiencies
by Katarzyna Napiórkowska-Baran, Marcin Ziętkiewicz, Ewa Więsik-Szewczyk, Aleksandra Matyja-Bednarczyk, Marta Tykwińska, Ewa Alska, Tomasz Rosada, Ewa Szynkiewicz, Jakub Lubański, Oskar Schmidt, Bartłomiej Szymczak, Kinga Koperska and Zbigniew Bartuzi
J. Clin. Med. 2023, 12(18), 6018; https://doi.org/10.3390/jcm12186018 - 17 Sep 2023
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Abstract
An improved recognition of inborn errors of immunity (IEI) is associated with an increase in life expectancy and a higher incidence of complications and related conditions. The aim of the study was to analyze factors enabling the primary prevention: BMI, smoking and selected [...] Read more.
An improved recognition of inborn errors of immunity (IEI) is associated with an increase in life expectancy and a higher incidence of complications and related conditions. The aim of the study was to analyze factors enabling the primary prevention: BMI, smoking and selected laboratory tests (morphology with smear, creatinine, eGFR, total protein, albumin, ferritin, folic acid, vitamin B12, vitamin D3) included in the protocols of standard of care for adult patients with primary antibody deficiencies (PADs). The study included 94 participants ≥ 18 years old, diagnosed with PADs. Overweight was found in 17%, obesity in 14% and underweight in 15% of patients; 11.5% of patients smoked. Leukopenia was diagnosed in 16%, neutropenia in 8.5%, lymphopenia in 22.5% and thrombocytopenia in 14% of patients. A decreased concentration of hemoglobin was found in 32%, total protein in 19%, albumin in 17%, vitamin D3 in 52%, vitamin B12 in 6.5%, folic acid in 34% and ferritin in 26% of patients. Creatinine concentrations were elevated in 16% of patients, while in 20%, eGFR was reduced. Only a holistic assessment of comorbidities and complications of deficiency, as well as regular follow-up and lifestyle changes, can yield the best results in the long-term care of patients. Full article
13 pages, 1360 KiB  
Article
Extended List of Warning Signs in Qualification to Diagnosis and Treatment of Inborn Errors of Immunity in Children and Young Adults
by Anna Dąbrowska, Elżbieta Grześk, Anna Urbańczyk, Marta Mazalon, Grzegorz Grześk, Jan Styczyński and Sylwia Kołtan
J. Clin. Med. 2023, 12(10), 3401; https://doi.org/10.3390/jcm12103401 - 11 May 2023
Cited by 4 | Viewed by 1565
Abstract
Background and Objectives: Inborn errors of immunity (IEI) refer to genetically determined disorders presenting with recurrent infections, autoimmunity, allergies, and malignancies. IEI is now commonly used, replacing the previously used term primary immunodeficiencies (PID). The 10 warning signs of IEI are widely used [...] Read more.
Background and Objectives: Inborn errors of immunity (IEI) refer to genetically determined disorders presenting with recurrent infections, autoimmunity, allergies, and malignancies. IEI is now commonly used, replacing the previously used term primary immunodeficiencies (PID). The 10 warning signs of IEI are widely used in the identification patients with IEI. The aim of the study was to determine and compare the utility of the 10 and 14 warning signs in IEI diagnosing. Methods: A retrospective analysis of 2851 patients was performed (98.17% were subjects under 18 years old and 1.83% were adults). All patients were questioned about the 10 warning signs and four additional signs: severe eczema, allergies, hemato-oncologic disorders and autoimmunity. Sensitivity, specificity, positive and negative predictive values, and odds ratio were calculated for the 10 and 14 warning signs. Results: IEI were diagnosed in a total of 896 (31.4%) patients and excluded in 1955 (68.6%). The strongest predictors of IEI were hemato-oncologic disorders (OR = 11.25; p < 0.001) and autoimmunity (OR = 7.74; p < 0.001). The strongest predictors of severe IEI were hemato-oncologic disorders (OR = 89.26; p < 0.001), positive family history (OR = 25.23; p < 0.001), and autoimmunity (OR = 16.89; p < 0.001). There were 20.4% and 14% of IEI patients without any signs from the 10 and 14 warnings signs, respectively (p < 0.001). 20.3% and 6.8% of patients with severe PIDs had no presence of any signs from 10 and 14 signs, respectively (p = 0.012). Conclusions: The 10 warning signs have limited usefulness in identifying IEI. The modified list of 14 warning signs seems to represent an effective diagnostic method for the detection of IEI patients, especially those with severe PIDs. Full article
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12 pages, 1896 KiB  
Article
Increased Access to Immunoglobulin Replacement Therapy for Patients with Primary Immunodeficiency in Poland Based on Clinical Usage Data of Immunoglobulin G over a 5-Year Period
by Ewa Więsik-Szewczyk, Marcin Ziętkiewicz, Anna Radziwilska-Muc and Karina Jahnz-Różyk
J. Clin. Med. 2023, 12(6), 2431; https://doi.org/10.3390/jcm12062431 - 22 Mar 2023
Cited by 1 | Viewed by 1676
Abstract
Owing to the rising popularity and demand for immunoglobulins (IgG), obtaining supplies and rationalizing IgG use have become challenging. Herein, IgG consumption in Poland was analyzed through total IgG use and number of patients reported to the National Health Fund between 1 January [...] Read more.
Owing to the rising popularity and demand for immunoglobulins (IgG), obtaining supplies and rationalizing IgG use have become challenging. Herein, IgG consumption in Poland was analyzed through total IgG use and number of patients reported to the National Health Fund between 1 January 2016 and 31 December 2020. Total IgG used within 5 years increased by 27.48%, IgG use/1000 inhabitants/year was 23.13 g (2016) and 29.61 g (2020). In 2020, 35.5 % of IgG used was for neurological conditions, 25% for primary immunodeficiencies (PID), and 39.3% for all other indications. Within 5 years, 1,121,168.75 g IgG was used in PID; the use increased by 72%, from 783 in 2016 to 1153 patients in 2020. The proportion of patients who received subcutaneous immunoglobulin (SCIG) replacement therapy (IgRT) increased to 78% (2020). Within 5 years, 1,783,534.81 g IgG was used in neurological drug programs (+42.44%) and 2,327,513.88 g (+1.25%) outside neurological indications and outside PID. The annual IgG amount decreased in adult anesthesiology and intensive care (−46%), internal medicine (−55%), pneumonology (−50%), pediatric clinical immunology (−50%), and gynecology and obstetrics (−48%) and increased in dermatology (+178%), rheumatology (+103%), and clinical transplantation (+82%). IgG use significantly increased in Poland, mostly owing to PID. Subcutaneous IgG administration is currently the most common mode of IgRT in PID patients. An increase in SCIG administration may be expected for other indications. Implementing evidence-based clinical guidelines is key to prioritizing and rationalizing IgG use for immunomodulatory indications and secondary immune deficiencies. Full article
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11 pages, 2044 KiB  
Case Report
Ataxia Telangiectasia Arising as Immunodeficiency: The Intriguing Differential Diagnosis
by Federica Cavone, Susanna Cappelli, Alice Bonuccelli, Sofia D’Elios, Giorgio Costagliola, Diego Peroni, Alessandro Orsini and Rita Consolini
J. Clin. Med. 2023, 12(18), 6041; https://doi.org/10.3390/jcm12186041 - 19 Sep 2023
Cited by 1 | Viewed by 986
Abstract
Ataxia telangiectasia (AT) is a rare disease characterized by the early onset and slow progression of neurodegenerative defects, mainly affecting the cerebellum, associated with immunodeficiency and teleangiectasias. Ataxia is the hallmark of the disease and usually its first manifestation. Overt cerebellar ataxia usually [...] Read more.
Ataxia telangiectasia (AT) is a rare disease characterized by the early onset and slow progression of neurodegenerative defects, mainly affecting the cerebellum, associated with immunodeficiency and teleangiectasias. Ataxia is the hallmark of the disease and usually its first manifestation. Overt cerebellar ataxia usually becomes evident between 16 and 18 months of age, after the onset of walking, and is characterized by frequent falls and an ataxic gait with an enlarged base. We report the case of a child who first presented with serious recurrent infectious, without exhibiting neurological symptoms. The patient was initially diagnosed with combined immunodeficiency (CID) of unknown etiology for nearly 3 years, before he was definitively diagnosed with ataxia telangiectasia. Full article
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