Primary immunodeficiency diseases (PID) represents a group of inherited diseases where mutations in certain gene lead to certain levels of defects in patient immune systems. Among them, several types of PID, including severe combined immunodeficiecny (SCID), warrented development of new types of curative treatment other than allogeneic hematopoietic stem cell transplantation, eventually culimin...

Primary immunodeficiencies (PIDs) are a heterogeneous group of inherited diseases of the immune system. The definite diagnosis of PID is ascertained by genetic analysis; however, this takes time and is costly. Flow cytometry provides a rapid and highly sensitive tool for diagnosis of PIDs. Flow cytometry can evaluate specific cell populations and subpopulations, cell surface, intracellular and ...

This presentation is organized according to the recent classification of primary immunodeficiencies published by the International Union of Immunological Societies Primary Immunodeficiency meeting. The diseases have been classified into eight groups. After each list, individual diseases that are amenable to assessment by flow cytometry are reviewed with a brief clinical description and a discus...

PURPOSE To promote awareness of primary immunodeficiency (PID), the "10 warning signs" of PID and an immunodeficiency-related (IDR) score were developed. However, their efficiency in identifying PID cases was not sufficiently evaluated in clinical practice. The objective of this study was to test the validity of the 10 warning signs and IDR score in identifying PID among children with recurrent...

Immunodeficiency diseases in children can have significant oral manifestations. Oral changes appear to depend on the nature of the host defect. Children with IgA deficiency and hypogammaglobulinemia do not demonstrate severe oral pathology or abnormalities in craniofacial development. Phagocytic ell defects are associated with mucosal esions or rapidly progressive forms of periodontal disease. ...

Background: Primary immunodeficiency disorders (PID) are a group of hereditary disorders characterized by an increased susceptibility to severe and recurrent infections, autoimmunity, lymphoproliferative disorders, and malignancy. Objective: To evaluate the demographic and clinical data of PID patients diagnosed in a referral pediatric hospital. Method: All PID cases with a confirmed diagnosis,...

epstein-barr virus (ebv) is a ubiquitous human -herpesvirus that infects about 95% of the adult population. the majority of primary infections occurs in early childhood and is generally subclinical; it can cause infectious mononucleosis (im), which is usually a self-limiting lymphoproliferative disorder. however, infection of ebv occasionally results in severe, often lethal diseases, which inc...

More than 20 North American academic centers account for the majority of hematopoietic stem cell transplantation (HCT) procedures for primary immunodeficiency diseases (PIDs), with smaller numbers performed at additional sites. Given the importance of a timely diagnosis of these rare diseases and the diversity of practice sites, there is a need for guidance as to best practices in management of...