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About 123 results

ALLMedicine™ Jacobsen Syndrome Center

Research & Reviews  49 results

Endothelial Loss of ETS1 Impairs Coronary Vascular Development and Leads to Ventricular...
https://doi.org/10.1161/CIRCRESAHA.121.319955
Circulation Research; Wang L, Lin L et. al.

Jul 28th, 2022 - Jacobsen syndrome is a rare chromosomal disorder caused by deletions in the long arm of human chromosome 11, resulting in multiple developmental defects including congenital heart defects. Combined studies in humans and genetically engineered mice...

Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity I...
https://doi.org/10.1007/s10875-022-01303-8
Journal of Clinical Immunology; Huisman EJ, Brooimans AR et. al.

Jun 29th, 2022 - Disorders of the long arm of chromosome 11 (11q) are rare and involve various chromosomal regions. Patients with 11q disorders, including Jacobsen syndrome, often present with a susceptibility for bacterial and prolonged viral and fungal infection...

Neonatal interstitial lung disease in a girl with Jacobsen syndrome: a case report.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8944088
Journal of Medical Case Reports; Dalen ML, Vigerust NF et. al.

Mar 25th, 2022 - We report a case of the neonatal interstitial lung disease pulmonary interstitial glycogenosis in a girl with Jacobsen syndrome. While Jacobsen syndrome is caused by a deletion on the long arm of chromosome 11 and is genetically confirmed, pulmona...

Spectrum of Genetic T-Cell Disorders from 22q11.2DS to CHARGE.
https://doi.org/10.1007/s12016-022-08927-z
Clinical Reviews in Allergy & Immunology; Urschel D, Hernandez-Trujillo VP

Feb 9th, 2022 - Improved genetic testing has led to recognition of a diverse group of disorders of inborn errors of immunity that present as primarily T-cell defects. These disorders present with variable degrees of immunodeficiency, autoimmunity, multiple organ ...

Immunological Evaluation of Patients Affected with Jacobsen Syndrome Reveals Profound N...
https://doi.org/10.1007/s10875-021-01169-2
Journal of Clinical Immunology; Baronio M, Saettini F et. al.

Nov 22nd, 2021 - Jacobsen syndrome (JS) is a rare form of genetic disorder that was recently classified as a syndromic immunodeficiency. Available detailed immunological data from JS patients are limited. Clinical and immunological presentation of twelve pediatric...

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