Pediatric Clinic and A. Nocivelli Institute of Molecular Medicine, Brescia, Italy.
J Pediatr. 2012 Oct;161(4):763-5. doi: 10.1016/j.jpeds.2012.05.058. Epub 2012 Jun 27.
Warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome is a rare immunodeficiency disorder. We report three patients with WHIM syndrome who are affected by Tetralogy of Fallot (TOF). This observation suggests a possible increased risk of TOF in WHIM syndrome and that birth presentation of TOF and neutropenia should lead to suspect WHIM syndrome.
疣、低丙种球蛋白血症、感染和骨髓嗜中性粒细胞减少(WHIM)综合征是一种罕见的免疫缺陷病。我们报告了 3 例 WHIM 综合征患者,他们均患有法洛四联症(TOF)。这一观察结果表明,WHIM 综合征患者发生 TOF 的风险可能增加,并且 TOF 和中性粒细胞减少的出生表现应提示 WHIM 综合征。