Journal of Pediatric Hematology/Oncology. 40(5):e319–e322, JUL 2018
DOI: 10.1097/MPH.0000000000001003
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PMID: 29200144
Issn Print: 1077-4114
Publication Date: 2018/07/01
Clinical Challenges: Identification of Patients With Novel Primary Immunodeficiency Syndromes
David Buchbinder;Mikko Seppanen;V. Rao;Gulbu Uzel;Diane Nugent;
+ Author Information
*Division of Hematology, CHOC Children’s Hospital, Orange, CA†Helsinki University, Central Hospital, Helsinki, Finland‡NIH, National Institute of Allergy and Infectious Disease, Bethesda, MD
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.
