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- OPEN ACCESSIntroduction: Coronin 1A is part of a family of highly conserved actin regulatory proteins with key roles in T cell homeostasis and T cell receptor signaling. Null mutations in coronin 1A result in severe combined immunodeficiency, whereas hypomorphic mutations have been associated with a somewhat milder immunological phenotype. Nevertheless, all patients described so far have markedly reduced naïve peripheral T cells, impaired T cell responses to mitogens, and limited T cell receptor diversity. Interestingly, despite poor thymic output, thymus architecture appears normal. To date, only 2 cases of hematopoietic stem cell transplantation (HSCT) have been reported in coronin 1A deficiency.Aim: To describe the identification, transplantation course, and long term outcome of a Canadian Inuit patient diagnosed with coronin 1A deficiency.Methods: Patient chart review was performed in accordance with institutional research ethics approval. A combination of immunological investigations and molecular genetic analyses were utilized to identify a novel mutation in the tryptophan-aspartate repeat region of coronin 1A. Based on the patient’s profound T cell dysfunction, the decision was made to proceed with HSCT.Results: The patient presented with a history of recurrent urinary tract infections, otitis media, and developmental delay involving poor axial and peripheral muscle tone. Axillary lymphadenopathy was noted and subsequent thymus biopsy revealed aberrant CD7+ T cell deficiency. Lymphocyte responses to mitogens and T cell receptor excision circle levels were markedly reduced, consistent with the diagnosis of severe combined immunodeficiency. Whole exome sequencing and Sanger confirmation revealed a novel mutation in coronin 1A. HSCT using a HLA-matched unrelated donor resulted in long term engraftment and solid immune reconstitution.Conclusion: Very few patients with coronin 1A deficiency have been described to date, making it difficult to evaluate its natural history and management. Here, we describe the presentation, identification, transplantation, and outcome in our patient.Statement of novelty: We describe the successful hematopoietic stem cell transplantation course and outcome in a patient with a novel mutation in coronin 1A.
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Psychosocial issues of the adolescent PI patient and the development of the PI Teen Outreach Program
Background: The effects of disruptions in the lives of the adolescent Primary Immunodeficiency (PI) patient require psychosocial staff involved in their care to find unique approaches to treatment. The demands of living with PI in adolescence complicates this already turbulent life cycle transition. Absence from school due to infections and treatment can lead to social isolation and in turn issues of self-esteem, creating challenges for teenagers with chronic diseases. The importance of maintaining social support with peers and developing a new network of social supports with teens with similar diagnoses is highlighted in the literature as an important factor in helping teens successfully cope with the demands of chronic illness.Methods: To best meet the complex needs of this population, the PI Teen Outreach Program was created in 2010. The goal was to connect teens with PI to one another in an environment that engages them in “normal” activities while providing an opportunity to discuss diagnosis, coping, and the impact of living with PI. The program consists of group teen events that involve an activity for peers to connect followed by a meal for sharing of life experiences. Community peers are invited to assist teens in demystifying their PI disease to their community friends.Results: At the conclusion of each outreach event, teens were given an anonymous evaluation utilizing both Likert scales and qualitative narrative comments. The positive feedback highlights the importance of providing creative and unique programs for this population.Conclusion: A diagnosis of PI can be difficult for teenagers as they cope with the developmental tasks of adolescence alongside a chronic illness. The Teen Outreach Program has been successful in enhancing the psychosocial support and normalizing the experience of teenagers with PI.Statement of novelty: There is a paucity of literature addressing the psychosocial issues that the PI teen population face and any novel programming to address their unique needs. - OPEN ACCESSRoifman syndrome is an association of humoral immunodeficiency, growth retardation, spondyloepiphyseal dysplasia, developmental delay, retinal dystrophy, and unique dysmorphism. Compound heterozygote mutations in the RNU4ATAC gene, an essential component of the minor spliceosome, were found to be the culprit for this disorder. Here we report a novel mutation in the RNU4ATAC gene, involving position 116. This mutation redefines the Sm protein binding site of this gene.Statement of novelty: We report here a patient with a novel mutation in the Sm protein-binding site that redefined its boundaries to include position 116.
- OPEN ACCESSIntroduction: For close to half a century immunoglobulin replacement therapy has been the main therapy for patients unable to produce functioning antibodies. To date, both subcutaneous (SC) and intravenous delivery methods have been successful at effectively and safely replacing immunoglobulin. Home intravenous and SC therapy programs have been established and have gained attention, but the true motivation and frequency of switching from traditional hospital-based treatment to these alternatives remains unknown. This study aims to determine the willingness of patients in Canada to switch to a home-based gammaglobulin treatment program by quantifying related experiences and preferences.Methods: A cohort of 169 patients in Ontario currently on hospital-based intravenous immunoglobulin (IVIG) replacement therapy (referral centers or community hospitals) were sent a 2.5 page survey consisting of 25 questions. Data were collected and statistically analyzed using Fisher, χ2, and McNemar tests, where P < 0.05 was considered statistically significant.Results: Ninety-one patients responded and most agreed to consider home therapy regardless of the administration route, based on recommendations from an immunologist (IVIG, P = 0.006; SC, P < 0.001). Patients preferred switching to home IVIG rather than to SC (P = 0.01), but their concerns regarding home healthcare costs were more prominent with IVIG (P = 0.01). The main concern with current intravenous therapy was the overall loss of time (P = 0.0001), whereas for home therapy it was the loss of supervision (P = 0.0009) and possible associated costs. Patients considered home treatment more convenient, as it is less time consuming (P = 0.01), and this was perceived as an improvement in quality of life (P = 0.001). It was considered less convenient because it may be unsafe and (or) more expensive.Conclusion: This survey demonstrates that home intravenous therapy maybe the preferred option for patients with antibody deficiency in Ontario, provided this decision was supported by a specialist in the field, secured supervision was available, and it was not associated with personal expenses.Statement of novelty: The first study to examine patient willingness to try a new route of gammaglobulin administration at home.
