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CASE REPORT
Child with unusual combination of sickle cell disease and autosomal recessive agammaglobulinemia associated with a novel CD79a gene mutation
  1. Rosa Martins1,
  2. Sofia Fraga2,
  3. Isabel Esteves3 and
  4. Paulo Calhau2
  1. 1 Pediatrics Department, Hospital de Santa Maria - Centro Hospitalar Universitário Lisboa Norte, Medical Academic Center of Lisbon, Lisbon, Portugal
  2. 2 Pediatrics Department, Hospital Garcia de Orta, Almada, Almada, Portugal
  3. 3 Pediatrics Department; Pediatric Infecciology Unit/Immunodeficiencies Center, Hospital de Santa Maria - Centro Hospitalar Universitário Lisboa Norte, Medical Academic Center of Lisbon, Lisbon, Portugal
  1. Correspondence to Rosa Martins, rmmartins16{at}gmail.com

Abstract

This article describes a novel mutation in CD79a gene identified in a child with sickle cell disease (SCD), who was diagnosed with autosomal recessive agammaglobulinaemia in the context of prolonged febrile syndrome. The association of a primary immunodeficiency with SCD in the same child was unexpected.

  • immunology
  • genetic screening / counselling
  • sickle cell disease
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Footnotes

  • Contributors RM: responsible for patient care during admission; drafted the manuscript. SF: responsible for patient care during admission; contributed to the diagnosis; critically reviewed the manuscript. IE: contributed to the diagnosis; responsible for patient care in the primary immunodeficiency clinic; critically reviewed the manuscript. PC: responsible for patient care during admission; contributed to the diagnosis; critically reviewed the manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent Parental/guardian consent obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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