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Patients with Chromosome 11q Deletions Are Characterized by Inborn Errors of Immunity Involving both B and T Lymphocytes.
Huisman, Elise J; Brooimans, A Rick; Mayer, Samone; Joosten, Marieke; de Bont, Louis; Dekker, Mariëlle; Rammeloo, Elisabeth L M; Smiers, Frans J; van Hagen, P Martin; Zwaan, C Michel; de Haas, Masja; Cnossen, Marjon H; Dalm, Virgil A S H.
Afiliación
  • Huisman EJ; Department of Pediatric Hematology, Erasmus Medical Center Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
  • Brooimans AR; Unit of Transfusion Medicine, Sanquin Blood Supply, Amsterdam, the Netherlands.
  • Mayer S; Laboratory Medical Immunological, Department of Immunology, Erasmus Medical Center, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
  • Joosten M; Department of Pediatric Hematology, Erasmus Medical Center Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
  • de Bont L; Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Dekker M; Department of Pediatric Immunology, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Rammeloo ELM; Department of Pediatrics, Albert Schweitzer Hospital, Dordrecht, the Netherlands.
  • Smiers FJ; Department of Pediatrics, Bernhoven Hospital, Uden, the Netherlands.
  • van Hagen PM; Department of Pediatric Hematology, Leiden University Medical Center, Leiden, the Netherlands.
  • Zwaan CM; Laboratory Medical Immunological, Department of Immunology, Erasmus Medical Center, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
  • de Haas M; Department of Internal Medicine, Division of Allergy & Clinical Immunology, Erasmus University Medical Center, Rotterdam, the Netherlands.
  • Cnossen MH; Department of Pediatric Oncology, Erasmus Medical Center Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, the Netherlands.
  • Dalm VASH; Department of Pediatric Oncology, Princess Máxima Center, Utrecht, the Netherlands.
J Clin Immunol ; 42(7): 1521-1534, 2022 10.
Article en En | MEDLINE | ID: mdl-35763218
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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Deleción Distal 11q de Jacobsen / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Clin Immunol Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Deleción Distal 11q de Jacobsen / Síndromes de Inmunodeficiencia Tipo de estudio: Diagnostic_studies / Risk_factors_studies Límite: Humans Idioma: En Revista: J Clin Immunol Año: 2022 Tipo del documento: Article País de afiliación: Países Bajos Pais de publicación: Países Bajos