Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency

Hogendorf, Anna; Lipska‐Ziętkiewicz, Beata S.; Szadkowska, Agnieszka; Borowiec, Maciej; Koczkowska, Magdalena; Trzonkowski, Piotr; Dróźdż, Izabela; Wyka, Krystyna; Limon, Janusz; Młynarski, Wojciech

doi:10.1111/pedi.12235

Cited by 9 publications

(19 citation statements)

References 34 publications

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“…381 Some large-scale genetic deletions, such as 18q deletion syndrome, have been associated with IgA deficiency, sometimes in association with other abnormalities, such as IgG 4 deficiency, and autoimmune manifestations, such as diabetes or thyroiditis. 383 Summary statement 97. Patients with serum IgA levels of less than the normal range for age but greater than 7 mg/dL should not be given a diagnosis of IgA deficiency.…”

Section: Summary Statement 94 Patients Having Hypogammaglobulinemia mentioning

confidence: 99%

Practice parameter for the diagnosis and management of primary immunodeficiency

Bernstein¹,

Blessing-Moore²,

Khan³

et al. 2015

Journal of Allergy and Clinical Immunology

562

494

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The American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly accepted responsibility for establishing the "Practice parameter for the diagnosis and management of primary immunodeficiency." This is a complete and comprehensive document at the current time. The medical environment is a changing environment, and not all recommendations will be appropriate for all patients. Because this document incorporated the efforts of many participants, no single individual, including those who served on the Joint Task Force, is authorized to provide an official AAAAI or ACAAI interpretation of these practice parameters. Any request for information about or an interpretation of these practice parameters by the AAAAI or ACAAI should be directed to the Executive Offices of the AAAAI, the ACAAI, and the Joint Council of Allergy, Asthma & Immunology. These parameters are not designed for use by pharmaceutical companies in drug promotion.

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Section: Summary Statement 94 Patients Having Hypogammaglobulinemia mentioning

confidence: 99%

Practice parameter for the diagnosis and management of primary immunodeficiency

Bernstein¹,

Blessing-Moore²,

Khan³

et al. 2015

Journal of Allergy and Clinical Immunology

562

494

View full text Add to dashboard Cite

show abstract

“… 11 Taking into account existence of numerous similar reports on autoimmune disorders, IgAD, as well as conversion of IgAD to more profound hypogammaglobulinemia in patients with 18q deletion, this is rather not a matter of coincidence, but a result of haploinsufficiency of certain genes located distally to 18q21. 5 , 8 , 9 , 12 , 13 …”

Section: Discussionmentioning

confidence: 99%

“…She was found, moreover, to have hypogammaglobulinemia and CD4 + CD25+FoxP3+regulatory T cells deficiency. 9 …”

Section: Introductionmentioning

confidence: 99%

Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes

Hogendorf

Szadkowska

Michalak

et al. 2021

Int J Immunopathol Pharmacol

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18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a 12-year-old girl with severe phenotype of 18q deletion syndrome, frequent infections, type 1 diabetes, autoimmune thyroiditis, and vitiligo. At first, the patient was diagnosed with selective immunoglobulin A (sIgAD) which explained her susceptibility to both infections and autoimmunity. With time, sIgAD progressed to common variable immune deficiency-like (CVID-like) disorder. She had a minimum of 12 infections per year, approximately twice as many courses of different antibiotics and up to three hospitalizations annually, making the treatment of diabetes difficult. Due to safety issues (increased risk of adverse reaction to blood products) and patient’s convenience, subcutaneous IgG (SCIG) replacement therapy was initiated. We noticed a substantial decrease in the number of infections and improvement of metabolic control of diabetes.

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“…Autoimmune diseases are described in association with 18qDS, including AITDs, DMT1, juvenile rheumatoid arthritis and pernicious anemia [113,166,167]. Possible explanations of the occurrence of autoimmune diseases in these subjects are the association between 18qDS and immunodeficits, such as IgA and Treg deficiency [113].…”

Section: Q Deletion Syndromementioning

confidence: 99%

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

Casto

Pepe

Pomi

et al. 2021

Genes

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Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.

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Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency

Cited by 9 publications

References 34 publications

Practice parameter for the diagnosis and management of primary immunodeficiency

Practice parameter for the diagnosis and management of primary immunodeficiency

Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes

Hashimoto’s Thyroiditis and Graves’ Disease in Genetic Syndromes in Pediatric Age

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