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Autoimmunity and Genetic Syndromes
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Autoimmunity and Genetic Syndromes

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: closed (20 October 2022) | Viewed by 15920

Special Issue Editor

Dr. Stefano Stagi

E-Mail Website
Guest Editor
1. Health Sciences Department, University of Florence, Piazza San Marco 4, 50121 Florence, Italy
2. Meyer Children’s Hospital IRCCS, Viale Pieraccini 24, 50139 Florence, Italy
Interests: endocrinology; auxology; genetic syndromes; autoimmune diseases
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues, 

Genetic syndromes represent relevant and rare diseases, including a large number of epidemiological, pathogenetic and clinical features.  Autoimmunity commonly features many well-known genetic conditions, such as Turner syndrome (TS), Trisomy 21 or Down syndrome (DS), 22q11.2 deletion syndrome (22q11.2DS); however, the susceptibility toward this disorder has been recently investigated for many other genetic syndromes, such as Kabuki, and Klinefelter. Abnormalities of the immune system are also reported in patients affected by RASopathies.

A systematic approach to genetic syndromes is often prevented by the rareness of these diseases. Hence, although clinical features are usually precisely defined, more uncommon associations between genetic syndromes and internal medicine related diseases are, at present, insufficiently studied.

Therefore, the purpose of this Special Issue is to better outline the characteristics of autoimmune problems in the main genetic syndromes, as well as in the rarer ones, toward facilitating a better understanding of these syndromes.

Dr. Stefano Stagi
Guest Editor

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Keywords

  • genetic syndromes
  • autoimmunity
  • autoimmune diseases
  • Turner syndrome
  • Down syndrome
  • 22q11.2 deletion syndrome
  • Kabuki syndrome
  • Noonan syndrome
  • Klinefelter syndrome

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Published Papers (5 papers)

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Research

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14 pages, 13617 KiB  
Article
Loss of Function TGFBR2 Variant as a Contributing Factor in Generalized Pustular Psoriasis and Adult-Onset Immunodeficiency
by Piranit Kantaputra, Teerada Daroontum, Mati Chuamanochan, Suteeraporn Chaowattanapanit, Worrachet Intachai, Bjorn Olsen, Thanapat Sastraruji, Sissades Tongsima, Chumpol Ngamphiw, Jatupol Kampuansai, Timothy C. Cox and Salin Kiratikanon
Genes 2023, 14(1), 103; https://doi.org/10.3390/genes14010103 - 29 Dec 2022
Cited by 7 | Viewed by 3189
Abstract
Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare multisystemic autoinflammatory disease, characterized by episodes of acute generalized erythema and scaling developed with the spread of numerous sterile pustules. Adult-onset immunodeficiency syndrome (AOID) with anti-interferon-γ autoantibodies is an immunodeficiency disorder associated with [...] Read more.
Background: Generalized pustular psoriasis (GPP; MIM 614204) is a rare multisystemic autoinflammatory disease, characterized by episodes of acute generalized erythema and scaling developed with the spread of numerous sterile pustules. Adult-onset immunodeficiency syndrome (AOID) with anti-interferon-γ autoantibodies is an immunodeficiency disorder associated with disruptive IFN-γ signaling. Methods: Clinical examination and whole exome sequencing (WES) were performed on 32 patients with pustular psoriasis phenotypes and 21 patients with AOID with pustular skin reaction. Histopathological and immunohistochemical studies were performed. Results: WES identified four Thai patients presenting with similar pustular phenotypes—two with a diagnosis of GPP and the other two with AOID—who were found to carry the same rare TGFBR2 frameshift mutation c.458del; p.Lys153SerfsTer35, which is predicted to result in a marked loss of functional TGFBR2 protein. The immunohistochemical studied showed overexpression of IL1B, IL6, IL17, IL23, IFNG, and KRT17, a hallmark of psoriatic skin lesions. Abnormal TGFB1 expression was observed in the pustular skin lesion of an AOID patient, suggesting disruption to TGFβ signaling is associated with the hyperproliferation of the psoriatic epidermis. Conclusions: This study implicates disruptive TGFBR2-mediated signaling, via a shared truncating variant, c.458del; p.Lys153SerfsTer35, as a “predisposing risk factor” for GPP and AOID. Full article
(This article belongs to the Special Issue Autoimmunity and Genetic Syndromes)
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11 pages, 687 KiB  
Article
Characterization of Autoimmune Thyroid Disease in a Cohort of 73 Paediatric Patients Affected by 22q11.2 Deletion Syndrome: Longitudinal Single-Centre Study
by Silvia Ricci, Walter Maria Sarli, Lorenzo Lodi, Clementina Canessa, Francesca Lippi, Chiara Azzari and Stefano Stagi
Genes 2022, 13(9), 1552; https://doi.org/10.3390/genes13091552 - 28 Aug 2022
Cited by 9 | Viewed by 2582
Abstract
Background. Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or aplasia. Thyroid anomalies are frequently reported in [...] Read more.
Background. Chromosome 22q11.2 Deletion Syndrome (22q11.2DS) is the most frequent microdeletion syndrome and is mainly characterized by congenital cardiac defects, dysmorphic features, hypocalcemia, palatal dysfunction, developmental delay, and impaired immune function due to thymic hypoplasia or aplasia. Thyroid anomalies are frequently reported in patients with 22q11.2DS, although only a few well-structured longitudinal studies about autoimmune thyroid disease (ATD) have been reported. Aim. To longitudinally evaluate the frequency of thyroid anomalies and ATD in patients with 22q11.2DS. Patients and Methods. Pediatric patients with a confirmed genetic diagnosis of 22q11.2DS were recruited and followed up on longitudinally. Clinical, biochemical, and immunological data were collected, as well as thyroid function, autoimmunity, and thyroid sonographic data. Results. The study included 73 children with 22q11.2DS, with a mean follow-up duration of 9.51 ± 5.72 years. In all, 16 of the 73 enrolled patients (21.9%) developed ATD before 18 years of age (mean age 12.92 ± 3.66 years). A total of 20.5% developed Hashimoto’s Thyroiditis (HT), of whom 50% required L-thyroxine treatment; 1.4% developed Graves Disease. Thyroid hypoplasia was found in 6/16 patients with ATD and left lobe hypoplasia in 9/16 patients. These features were also found in patients affected by 22q11.2DS without ATD. Among patients who developed ATD, at the first altered ultrasound scan, the most frequent anomalies suggestive of thyroiditis were inhomogeneous echotexture, diffuse or irregular hypo-echogenicity, and vascular overflow. Conclusion. We strongly recommend periodic screening of thyroid function and for autoimmunity in patients affected by 22q11.2DS. Along with blood tests, ultrasound scans of the thyroid gland should be performed periodically since some patients who go on to develop an ATD could have specific anomalies on ultrasound prior to any other anomaly. Full article
(This article belongs to the Special Issue Autoimmunity and Genetic Syndromes)
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Review

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23 pages, 1966 KiB  
Review
Deciphering the Genetic Code of Autoimmune Kidney Diseases
by Stephanie U-Shane Huang, Oneli Kulatunge and Kim Maree O’Sullivan
Genes 2023, 14(5), 1028; https://doi.org/10.3390/genes14051028 - 30 Apr 2023
Cited by 3 | Viewed by 4181
Abstract
Autoimmune kidney diseases occur due to the loss of tolerance to self-antigens, resulting in inflammation and pathological damage to the kidneys. This review focuses on the known genetic associations of the major autoimmune kidney diseases that result in the development of glomerulonephritis: lupus [...] Read more.
Autoimmune kidney diseases occur due to the loss of tolerance to self-antigens, resulting in inflammation and pathological damage to the kidneys. This review focuses on the known genetic associations of the major autoimmune kidney diseases that result in the development of glomerulonephritis: lupus nephritis (LN), anti-neutrophil cytoplasmic associated vasculitis (AAV), anti-glomerular basement disease (also known as Goodpasture’s disease), IgA nephropathy (IgAN), and membranous nephritis (MN). Genetic associations with an increased risk of disease are not only associated with polymorphisms in the human leukocyte antigen (HLA) II region, which governs underlying processes in the development of autoimmunity, but are also associated with genes regulating inflammation, such as NFkB, IRF4, and FC γ receptors (FCGR). Critical genome-wide association studies are discussed both to reveal similarities in gene polymorphisms between autoimmune kidney diseases and to explicate differential risks in different ethnicities. Lastly, we review the role of neutrophil extracellular traps, critical inducers of inflammation in LN, AAV, and anti-GBM disease, where inefficient clearance due to polymorphisms in DNase I and genes that regulate neutrophil extracellular trap production are associated with autoimmune kidney diseases. Full article
(This article belongs to the Special Issue Autoimmunity and Genetic Syndromes)
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Other

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10 pages, 257 KiB  
Protocol
Benefits and Harms of Treatment and Preventive Interventions for Hereditary Angioedema: Protocol for a Systematic Review and Network Meta-Analysis of Randomized Controlled Trials
by Mati Chuamanochan, Sutthinee Phuprasertsak, Puncharas Weesasubpong, Chidchanok Ruengorn, Chabaphai Phosuya, Ratanaporn Awiphan, Brian Hutton, Kednapa Thavorn, Jonathan A. Bernstein and Surapon Nochaiwong
Genes 2022, 13(5), 924; https://doi.org/10.3390/genes13050924 - 22 May 2022
Cited by 1 | Viewed by 2760
Abstract
Background: Hereditary angioedema (HAE) is a rare genetic disease that can lead to potentially life-threatening airway attacks. Although novel therapies for HAE treatment have become available over the past decades, a comparison of all available treatments has not yet been conducted. As such, [...] Read more.
Background: Hereditary angioedema (HAE) is a rare genetic disease that can lead to potentially life-threatening airway attacks. Although novel therapies for HAE treatment have become available over the past decades, a comparison of all available treatments has not yet been conducted. As such, we will perform a systematic review and network meta-analysis to identify the best evidence-based treatments for the management of acute attacks and prophylaxis of HAE. Methods: This study will include both parallel and crossover randomized controlled trials that have investigated prevention or treatment strategies for HAE attacks. We will search electronic databases, including Medline, Embase, PubMed, Cochrane Library, Scopus, and CINAHL, from inception with no language restrictions. Potential trials will be supplemented through a gray literature search. The process of study screening, selection, data extraction, risk-of-bias assessment, certainty assessment and classification of treatments will be performed independently by a pair of reviewers. Any discrepancy will be addressed through team discussion. A two-step approach of pairwise and network meta-analysis will be performed. The summarized effect estimates of direct and indirect treatment comparisons will be pooled using DerSimonion–Laird random-effects models. The incoherence assumption, in terms of the consistency of direct and indirect effects, will be assessed. An evidence-based synthesis will be performed, based on the magnitudes of effect size, evidence certainty, and ranking of treatment effects, with respect to treatment benefits and harms. Discussion: This systematic review and network meta-analysis will summarize evidence-based conclusions with respect to the ratio of benefits and harms arising from interventions for the treatment of acute attacks and prophylaxis of HAE. Evidence from this network estimate could promote the rational use of interventions among people living with HAE in clinical practice settings. PROSPERO registration number: CRD42021251367. Full article
(This article belongs to the Special Issue Autoimmunity and Genetic Syndromes)
8 pages, 19081 KiB  
Case Report
Clinical Characteristics in the Longitudinal Follow-Up of APECED Syndrome in Southern Croatia—Case Series
by Veselin Skrabic, Ivna Skrabic, Roko Skrabic, Blanka Roje and Marko Simunovic
Genes 2022, 13(4), 558; https://doi.org/10.3390/genes13040558 - 22 Mar 2022
Cited by 7 | Viewed by 2319
Abstract
Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (AIRE) gene characterized by complex phenotypic characteristics discovered over years of follow-up. Methods: 7 patients were recruited in this [...] Read more.
Background: Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare monogenetic autosomal recessive disorder caused by a mutation in the autoimmune regulator (AIRE) gene characterized by complex phenotypic characteristics discovered over years of follow-up. Methods: 7 patients were recruited in this case series in a period of the last 37 years from Southern Croatia. All patients were screened for AIRE R257X mutations. Results: This study group had a mean current age of 25.3 years (age range from 5.4 to 40.2 years), while the mean age at the onset of the disease was 6.5 years (age range from 0.7 to 9.2 years) and with a mean follow-up period of 17.8 years. The overall prevalence of APECED syndrome is estimated to be 1 in 75,000. The most common initial manifestation of the disease was onychodystrophy, while the first major component of APECED syndrome was chronic mucocutaneous candidiasis. Conclusions: APECED is a ‘‘multi-faced’’ disease based on the very unpredictable and inconsistent onset of major components. Furthermore, based on our results, we suggest that onychodystrophy could be included as a warning sign of APECED syndrome. Full article
(This article belongs to the Special Issue Autoimmunity and Genetic Syndromes)
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