Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes
| Autor: | Elise J. Huisman, A. Rick Brooimans, Samone Mayer, Marieke Joosten, Louis de Bont, Mariëlle Dekker, Elisabeth L. M. Rammeloo, Frans J. Smiers, P. Martin van Hagen, C. Michel Zwaan, Masja de Haas, Marjon H. Cnossen, Virgil A. S. H. Dalm |
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| Přispěvatelé: | Pediatrics, Erasmus MC other, Emergency Medicine, Pathology, Immunology, Internal Medicine |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Chromosome Aberrations
Primary immunodeficiency B lymphocyte function T-Lymphocytes Hypogammaglobulinemia Immunology Immunologic Deficiency Syndromes Inborn errors of immunity Chromosomes Jacobsen syndrome T lymphocyte function Immunology and Allergy Humans Granulocyte function Jacobsen Distal 11q Deletion Syndrome Lymphocyte Count Chromosome 11q Chromosome Deletion Children |
| Zdroj: | Journal of Clinical Immunology, 42(7), 1521-1534. Springer New York Journal of Clinical Immunology, 42(7), 1521-1534. SPRINGER/PLENUM PUBLISHERS |
| ISSN: | 0271-9142 |
| Popis: | 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 infections partially explained by hypogammaglobulinemia. Additional T lymphocyte or granular neutrophil dysfunction may also be present. In order to evaluate infectious burden and immunological function in patients with 11q disorders, we studied a cohort of 14 patients with 11q deletions and duplications. Clinically, 12 patients exhibited prolonged and repetitive respiratory tract infections, frequently requiring (prophylactic) antibiotic treatment (n = 7), ear-tube placement (n = 9), or use of inhalers (n = 5). Complicated varicella infections (n = 5), chronic eczema (n = 6), warts (n = 2), and chronic fungal infections (n = 4) were reported. Six patients were on immunoglobulin replacement therapy. We observed a high prevalence of low B lymphocyte counts (n = 8), decreased T lymphocyte counts (n = 5) and abnormal T lymphocyte function (n = 12). Granulocyte function was abnormal in 29% without a clinical phenotype. Immunodeficiency was found in patients with terminal and interstitial 11q deletions and in one patient with terminal 11q duplication. Genetically, FLI1 and ETS1 are seen as causative for the immunodeficiency, but these genes were deleted nor duplicated in 4 of our 14 patients. Alternative candidate genes on 11q may have a role in immune dysregulation. In conclusion, we present evidence that inborn errors of immunity are present in patients with 11q disorders leading to clinically relevant infections. Therefore, broad immunological screening and necessary treatment is of importance in this patient group. |
| Databáze: | OpenAIRE |
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