title: A novel mutation in the interleukin-2 receptor gamma gene as the cause of lymphopenia in a neonate vertically exposed to human immunodeficiency virus.
abstract: Perinatal transmission prophylaxis has led to a significant reduction of vertical human immunodeficiency virus (HIV) infection. Antiretroviral drugs are being widely used before and during pregnancy, although these drugs can have possible adverse effects on the fetus and newborn. In this context, we report a unique case of X-linked severe combined immunodeficiency in a neonate vertically exposed to HIV.
authors.affiliation: Division of Pediatrics and Rheumatology at the Childrens Hospital, Heinrich Heine University, Duesseldorf, Germany.
authors.forename: Jennifer
authors.initials: J
authors.lastname: Neubert
authors.forename: Alfons
authors.initials: A
authors.lastname: Meindl
authors.forename: Albert
authors.initials: A
authors.lastname: Theisen
authors.forename: Ortwin
authors.initials: O
authors.lastname: Adams
authors.forename: Ansgar
authors.initials: A
authors.lastname: Schulz
authors.forename: Oliver
authors.initials: O
authors.lastname: Feyen
authors.forename: Tim
authors.initials: T
authors.lastname: Niehues
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis* / Q000235:genetics; D015658:HIV Infections / Q000175:diagnosis; D006801:Humans; D007231:Infant, Newborn; D018445:Infectious Disease Transmission, Vertical; D053631:Interleukin Receptor Common gamma Subunit; D008231:Lymphopenia / Q000235:genetics*; D008297:Male; D009154:Mutation; D011247:Pregnancy; D015375:Receptors, Interleukin-2 / Q000235:genetics*; D016511:Severe Combined Immunodeficiency / Q000175:diagnosis / Q000235:genetics*
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit; D015375:Receptors, Interleukin-2