Background: X-linked agammaglobulinemia type 1 (XLA) is one of the most common pediatric inborn errors of immunity affecting the humoral immune system. The condition is caused by a mutation in the Bruton’s tyrosine kinase gene (BTK), located in the long arm of the X-chromosome. BTK is crucial for B lymphocyte differentiation and activation. Therefore, a defect in BTK results in B lymphocyte maturation arrest, absence of plasma cells, and failure of immunoglobulin production. XLA affected individuals present with a history of frequent severe pyogenic infections such as pneumonia, conjunctivitis, otitis media, and bacteremia. Laboratory evaluation classically reveals undetectable immunoglobulins and the absence of B cells. The mainstay treatment is immunoglobulin replacement which can be administered intravenously (IVIG) or subcutaneously (SCIG). Aggressive antimicrobial treatment is also administered to reduce complications such as bronchiectasis or invasive bacterial infections during active infections.Aim: To report the clinical presentation, immune features, and genetic mutation in a case of a four-year-old boy with a novel mutation in the BTK gene leading to XLA.Results: The patient’s chart was reviewed. We describe the phenotypical and diagnostic characteristics of an established case in a four-year-old boy who suffered from recurrent infections. Genetic analysis revealed a pathogenic novel mutation in the BTK gene (c.1953C>A; p.Tyr651*), while flow cytometry found 0% CD19+ (B cells), and low serum Ig levels.Discussion: We report the clinical presentation, immune features, and genetic mutation in a patient with a novel mutation in the BTK gene causing XLA. Genetic analysis along with patient history, physical examination, and laboratory results are necessary to identify and diagnose XLA associated with pathogenic mutations in the BTK gene.Statement of novelty: We present an established case of a novel mutation in the BTK gene (c.1953C>A; p.Tyr651*), based on genetic analysis, absent CD19+cells (B cells), and low Ig serum levels.

A diagnosis of immunodeficiency can be challenging for families as they navigate the emotional impact of this diagnosis, as well the potential financial burden of treatment. As is the case with many rare diseases, there existed a paucity of information for families looking for appropriate resources related to their diagnosis. The Primary Immunodeficiency Social Work Network was established in 2011 by Immunodeficiency Canada to develop a network of social workers across Canada who work with patients diagnosed with primary immunodeficiency. This network has had a focus on support programs, education, and research. Resource guides were created by the network with the goal of providing comprehensive support and information on resources available for families and individuals affected by primary immunodeficiency in each province as well as those available nationally.Statement of Novelty: National and provincial resources guides, reviewed and updated yearly, have been created for families and individuals affected by primary immunodeficiency.