Publication: A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency
dc.contributor.author | Malik, Shahzara | |
dc.date.accessioned | 2024-06-06T09:25:41Z | |
dc.date.available | 2024-06-06T09:25:41Z | |
dc.date.issued | 2023-11 | |
dc.description.abstract | Abstract: In patients with 18q deletion syndrome (18q-), immunodeficiency, autoimmunity, and allergies have been described in a subset. Pitt-Hopkins syndrome represents a specific subset of patients with 18q- who have a proximal deletion involving the TCF4 gene or a TCF4 variant. Immunodeficiency has been reported in the overall 18q- population; however, immunodeficiency with Pitt-Hopkins syndrome has not been highlighted. This case report details the immunologic evaluations and the associated infections seen in a young adult with Pitt-Hopkins syndrome to underscore the challenges of managing adults with a complex phenotype who develop frequent infections. This patient with Pitt-Hopkins syndrome ultimately fulfilled the diagnostic criteria for common variable immunodeficiency. Immunoglobulin replacement has led to a somewhat improved infection pattern, although she continues to have aspiration events leading to pneumonia. This case highlights the clinical evolution of Pitt-Hopkins syndrome and serves as a reminder that immunodeficiency can occur in this syndrome. | en_US |
dc.identifier.uri | https://repository.mbru.ac.ae/handle/1/1470 | |
dc.language.iso | en | en_US |
dc.subject | 18q deletion | en_US |
dc.subject | 18q- syndrome | en_US |
dc.subject | common variable | en_US |
dc.subject | Immunodeficiency | en_US |
dc.subject | Pitt– Hopkins syndrome | en_US |
dc.title | A patient with Pitt-Hopkins syndrome with concomitant common variable immunodeficiency | en_US |
dc.type | Article | en_US |
dspace.entity.type | Publication | en_US |