A novel mutation in the interleukin-2 receptor gamma gene as the cause of lymphopenia in a neonate vertically exposed to human immunodeficiency virus.
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.
Neubert
Jennifer
J
Division of Pediatrics and Rheumatology at the Childrens Hospital, Heinrich Heine University, Duesseldorf, Germany.
Meindl
Alfons
A
Theisen
Albert
A
Adams
Ortwin
O
Schulz
Ansgar
A
Feyen
Oliver
O
Niehues
Tim
T
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*
C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit; D015375:Receptors, Interleukin-2