Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes. Issue 5 (July 2018)

• Record Type: Journal Article
• Authors: Buchbinder, David; Seppanen, Mikko; Rao, V. Koneti; Uzel, Gulbu; Nugent, Diane
• Is Part Of: Journal of pediatric hematology/oncology. Volume 40:Issue 5(2018)
• Publication Date: 2018-07
• Subjects: CTLA-4 -- PIK3CD -- autoimmunity -- immune dysregulation -- immune deficiency; Pediatric hematology -- Periodicals; Tumors in children -- Periodicals; 618.9215
• DOI: 10.1097/MPH.0000000000001003
• Languages: English
• ISSNs: 1077-4114

Abstract

Abstract : Novel primary immunodeficiency disorders are being identified with next generation sequencing technologies. We describe 1 patient with cytotoxic T-lymphocyte-associated protein 4 (CTLA-4) haploinsufficiency who had recurrent enhancing brain lesions, nodular pulmonary infiltrates, hepatosplenomegaly, immune cytopenias, as well as progressive hypogammaglobulinemia and lymphopenia. We describe a second patient with activated p110δ syndrome (APDS)/p110δ activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency (PASLI) in association with recurrent respiratory tract infections, Epstein-Barr virus infection, lymphadenopathy, elevated serum IgM, and progressive lymphopenia. These presentations highlight the need for astute clinical judgment in the evaluation of patients with potential primary immunodeficiency disorders.