X-linked lymphoproliferative disease associated with hypogammaglobulinemia and growth-hormone deficiency.
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.
Alangari
Abdullah
A
Department of Pediatrics, College of Medicine, King Saud University, P.O. Box 2925, 11461, Riyadh, Saudi Arabia. alangari100@hotmail.com
Abobaker
Abdullah
A
Kanegane
Hirokazu
H
Miyawaki
Toshio
T
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
D019382:Human Growth Hormone