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22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management
Ozen, Selime; Akcal, Omer; Taskirdi, Ilke; Haci, Idil Akay; Karaca, Neslihan Edeer; Gulez, Nesrin; Aksu, Guzide; Genel, Ferah; Kutukculer, Necil.
Afiliação
  • Ozen, Selime; BU Izmir Dr Behcet Uz Children's Education and Research Hospital. Division of Allergy and Immunology. Department of Pediatrics. Izmir. Turkey
  • Akcal, Omer; BU Izmir Dr Behcet Uz Children's Education and Research Hospital. Division of Allergy and Immunology. Department of Pediatrics. Izmir. Turkey
  • Taskirdi, Ilke; BU Izmir Dr Behcet Uz Children's Education and Research Hospital. Division of Allergy and Immunology. Department of Pediatrics. Izmir. Turkey
  • Haci, Idil Akay; BU Izmir Dr Behcet Uz Children's Education and Research Hospital. Division of Allergy and Immunology. Department of Pediatrics. Izmir. Turkey
  • Karaca, Neslihan Edeer; BU Izmir Dr Behcet Uz Children's Education and Research Hospital. Division of Allergy and Immunology. Department of Pediatrics. Izmir. Turkey
  • Gulez, Nesrin; BU Izmir Dr Behcet Uz Children's Education and Research Hospital. Division of Allergy and Immunology. Department of Pediatrics. Izmir. Turkey
  • Aksu, Guzide; Ege University Faculty of Medicine. Division of Immunology. Department of Pediatrics. Izmir. Turkey
  • Genel, Ferah; BU Izmir Dr Behcet Uz Children's Education and Research Hospital. Division of Allergy and Immunology. Department of Pediatrics. Izmir. Turkey
  • Kutukculer, Necil; Ege University Faculty of Medicine. Division of Immunology. Department of Pediatrics. Izmir. Turkey
Allergol. immunopatol ; 49(1): 95-100, ene.-feb. 2021. tab
Artigo em Inglês | IBECS | ID: ibc-199231
Biblioteca responsável: ES1.1
Localização: BNCS
ABSTRACT
INTRODUCTION AND

OBJECTIVES:

The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease. MATERIAL AND

METHODS:

Thirty-three pediatric patients with 22q11.2 deletion syndrome diag­nosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children's Education and Research Hospital were evaluated.

RESULTS:

This study includes the largest case series reported from Turkey. Congenital car­diac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syn­drome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogam­maglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up.

CONCLUSIONS:

Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any differ­ence in terms of numbers and severity of infections and autoimmunity
RESUMEN
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Assuntos

Texto completo: Disponível Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Cromossomos Humanos Par 22 / Transtornos Cromossômicos / Síndrome da Deleção 22q11 / Síndromes de Imunodeficiência Limite: Criança, pré-escolar / Feminino / Humanos / Masculino Idioma: Inglês Revista: Allergol. immunopatol Ano de publicação: 2021 Tipo de documento: Artigo Instituição/País de afiliação: BU Izmir Dr Behcet Uz Children's Education and Research Hospital/Turkey / Ege University Faculty of Medicine/Turkey

Texto completo: Disponível Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Cromossomos Humanos Par 22 / Transtornos Cromossômicos / Síndrome da Deleção 22q11 / Síndromes de Imunodeficiência Limite: Criança, pré-escolar / Feminino / Humanos / Masculino Idioma: Inglês Revista: Allergol. immunopatol Ano de publicação: 2021 Tipo de documento: Artigo Instituição/País de afiliação: BU Izmir Dr Behcet Uz Children's Education and Research Hospital/Turkey / Ege University Faculty of Medicine/Turkey
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