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.
- genetic screening / counselling
- sickle cell disease
Statistics from Altmetric.com
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.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.