Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients

Cesare, Silvia Di; Puliafito, Pamela; Ariganello, Paola; Marcovecchio, Genni Enza; Mandolesi, Martina; Capolino, Rossella; Digilio, María Cristina; Aiuti, Alessandro; Rossi, Paolo; Cancrini, Caterina

doi:10.1111/pai.12420

Cited by 26 publications

(24 citation statements)

References 10 publications

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“…(3) Thymic maldevelopment may result in several immunologic abnormalities. T-cell lymphopenia and decreased absolute counts of CD4+CD25+ natural Tregs have been observed in 22q11.2DS patients especially during the first 4 years of life and might explain the early age of GD onset in some cases (142)(143)(144). (4) Furthermore, lymphopenia and restricted T cell repertoires, abnormal T cell activation and associated B cell dysregulation and humoral dysfunction, as well as Th1/Th2 imbalance of the CD4+ T cells may also be implicated in the induction of autoimmunity (130,141,145,146) (Table 1).…”

Section: Q112 Deletion Syndromementioning

confidence: 98%

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Kyritsi

Kanaka‐Gantenbein

2020

Front. Endocrinol.

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Autoimmune thyroid disease (ATD) is the most frequent cause of acquired thyroid dysfunction, most commonly presenting either as Hashimoto's thyroiditis or Graves' Disease. Hashimoto's thyroiditis is characterized by the presence of thyroid-specific autoantibodies, more commonly anti-thyroperoxidase antibodies in the serum and the typical inhomogeneous echostructure of the thyroid on a thyroid ultrasound examination. Hashimoto's thyroiditis can for a long time be accompanied by normal thyroid function and hypothyroidism can only progressively be established. Graves' disease is much less frequent in childhood and adolescence and presents with overt hyperthyroidism. After the onset of puberty, ATD affects females with a higher incidence than males, while during the prepubertal period there is not such a clear preponderance of affected females. ATD can occur either isolated or in the context of other autoimmune disorders, such as type 1 Diabetes mellitus (T1D), celiac disease, alopecia areata, vitiligo, etc. Especially at the pediatric age, a higher incidence of ATD is also observed in the context of specific genetic syndromes, such as trisomy 21 (Down syndrome), Klinefelter syndrome, Turner syndrome, or 22q11.2 deletion syndrome. Nevertheless, although thyroid dysfunction may also be observed in other genetic syndromes, such as Prader-Willi or Williams syndrome, the thyroid dysfunction in these syndromes is not the result of thyroid autoimmunity. Interestingly, there is emerging evidence supporting a possible link between autoimmunity and RASopathies. In this review article the incidence, as well as the clinical manifestation and accompanied pathologies of ATD in specific genetic syndromes will be presented and regular follow-up for the early identification of the disorder will be proposed.

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Section: Q112 Deletion Syndromementioning

confidence: 98%

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Kyritsi

Kanaka‐Gantenbein

2020

Front. Endocrinol.

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“…Furthermore, patients with 22q11.2DS may exhibit hypogammaglobulinemia with defective response to pneumococcal polysaccharide 9,10 , decreased CD27+ memory B cells 11,12 , increased CXCR4+ circulating follicular helper T cells 12,13 , low natural regulatory T cells 7,14 , and deficient NK cytotoxic activity 15 .…”

Section: How Does This Study Impact Current Management Guidelines?mentioning

confidence: 99%

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Montin

Marolda

Licciardi

et al. 2019

The Journal of Allergy and Clinical Immunology: In Practice

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“…11 Autoimmune diseases in patients with DGS have been reported sporadically with a frequency range from 10% to 18%. 4,24,25 Autoimmunity is more common in DGS patients with recurrent severe infection. 24 On the other hand, less autoimmune diseases were observed in patients with high number of naive CD4 + T cells.…”

Section: Patients With Reduced % Of Csb Cells (N = 6) P-valuementioning

confidence: 99%

“…4,24,25 Autoimmunity is more common in DGS patients with recurrent severe infection. 24 On the other hand, less autoimmune diseases were observed in patients with high number of naive CD4 + T cells. 25 High frequency (27.7%) of autoimmune diseases was detected in our patients when…”

Section: Patients With Reduced % Of Csb Cells (N = 6) P-valuementioning

confidence: 99%

Immune system defects in DiGeorge syndrome and association with clinical course

et al. 2019

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We evaluated 18 DiGeorge syndrome (DGS) patients and aimed to investigate the immunological changes in this population. DGS patients with low naive CD4 + T and CD8 + T cells were defined as high-risk (HR) patients, whereas patients with normal numbers of naive CD4 + and CD8 + T cells were defined as standard risk (SR) patients. Level of serum IgM, CD3 + T cell counts and percentages of class-switched memory B cells were significantly low in HR group compared to SR ones. Severe infections and persistent hypoparathyroidism were detected significantly higher in HR group. Patients with reduced percentages of class-switched B cells had earlier onset of infection, lower blood IgM, lower CD4 + and CD8 + T counts than patients with normal class-switched memory B cells. Decreased levels of IgM were associated with low numbers of naive CD4 + and recent thymic emigrants T cells. Monitoring the immune changes of patients with DGS would be useful to predict the severe phenotype of disease.

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Autoimmunity and regulatory T cells in 22q11.2 deletion syndrome patients

Cited by 26 publications

References 10 publications

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Autoimmune Thyroid Disease in Specific Genetic Syndromes in Childhood and Adolescence

Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome

Immune system defects in DiGeorge syndrome and association with clinical course

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