title: X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency.
abstract: X-linked lymphoproliferative disease is a rare immunodeficiency disorder characterized by extreme vulnerability to Epstein-Barr virus, dysgammaglobulinemia, and very high incidence of lymphoma. Growth-hormone deficiency has been described in rare cases to be associated with certain immunodeficiencies, such as X-linked agammaglobulinemia. We report a first case with X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency, which was confirmed by SAP gene mutation. The patient's mutation is novel. He is also the first patient with X-linked lymphoproliferative disease to be reported from Saudi Arabia. The patient's Btk expression and BTK gene were normal. Patients with hypogammaglobulinemia and GH deficiency should be considered to have not only X-linked agammaglobulinemia, but also X-linked lymphoproliferative disease.
authors.affiliation: Department of Pediatrics, College of Medicine, King Saud University, P.O. Box 2925, 11461, Riyadh, Saudi Arabia. alangari100@hotmail.com
authors.forename: Abdullah
authors.initials: A
authors.lastname: Alangari
authors.forename: Abdullah
authors.initials: A
authors.lastname: Abobaker
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D002648:Child; D041321:Chromosomes, Human, X; D004406:Dysgammaglobulinemia / Q000209:etiology*; D020031:Epstein-Barr Virus Infections / Q000150:complications*; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000150:complications*; D008297:Male
chemical_list: D019382:Human Growth Hormone