DefinePK

Abstract

Introduction: This article emphasizes on the importance of time frame for diagnosis and management of immunodeficiency syndromes and also highlights the diagnostic dilemma that most often such cases are misdiagnosed or undiagnosed which contributes to significant morbidity and mortality. Case Presentation: This article with the help of five exemplary cases illustrates the different types of primary immunodeficiencies including severe combined immunodeficiency (SCID), and their varied clinical presentations and management and also describes the difficulty in reaching final diagnosis and a brief review of literature on primary immunodeficiency and its therapeutic approach. Management and Outcome: All the patients described in this case based study underwent Hematopoietic stem cell transplant; the definitive therapeutic approach for all kinds of immunodeficiency syndromes. Four out of five patients were successfully treated, unfortunately one could not survive. Discussion: The purpose of this article is to raise public health awareness regarding prevalence of primary immunodeficiency disorders and their possible cure via hematopoietic stem cell transplant, if diagnosed and managed promptly.