A Severe Neonatal Lymphopenia Associated With Administration of Azathioprine to the Mother in a Context of Crohn's Disease. (2nd September 2017)

• Record Type: Journal Article
• Authors: Thomas, Caroline; Monteil-Ganiere, Catherine; Mirallié, Sophie; Hémont, Caroline; Dert, Cecile; Léger, Alexandra; Joyau, Caroline; Caldari, Dominique; Audrain, Marie
• Is Part Of: Journal of Crohn's and colitis. Volume 12:Number 2(2018:Feb.)
• Page Start: 258
• Page End: 261
• Publication Date: 2017-09-02
• Subjects: Azathioprine -- Crohn's disease -- pregnancy -- SCID -- TRECs; Inflammatory bowel diseases -- Periodicals; 616.344005
• DOI: 10.1093/ecco-jcc/jjx123
• Languages: English
• ISSNs: 1873-9946

Abstract

Abstract: Azathioprine is commonly used in Crohn's disease. It has been administered to many pregnant women over many years without significant side effects. However, pancytopenia and severe combined immune deficiency-like disease have been reported in infants whose mothers received azathioprine throughout pregnancy. Moreover, myelotoxicity has been described in patients being treated with azathioprine and having a low or absent thiopurine S-methyl transferase [TPMT] activity. Here, we describe the case of a newborn girl found to be highly lymphopenic [< 300 CD3+ T cells] after a positive newborn screening for severe combined immuno deficiency. The clinical examination was normal. The mother was treated with azathioprine throughout her pregnancy, without any reduction of the dose. It was shown that the mother was heterozygous for the 3A [TPMT] activity mutation and that the baby was homozygous for the same mutation; 6-thioguanine nucleotides were high (744 pmol/8.10 8 red blood cells [RBC]) in the mother and detectable in the infant [177 pmol/8.10 8 RBC]. Although rare, this case illustrates the potential grave consequences of unsuspected TPMT homozygosity in a newborn of a mother receiving thiopurines during pregnancy. Because of the severity of the risk for the newborn, consideration should be given to performing maternal genetic testing and newborn routine blood count in cases of thiopurine treatment during pregnancy.