Tehran University of Medical Sciences Iranian Journal of Allergy, Asthma and Immunology 1735-1502 14 3 2015 10 18 331 337 EN Turkan Patiroglu Department of Pediatric Immunology, Erciyes University School of Medicine, Kayseri, Turkey H Akar Department of Pediatric Immunology, Erciyes University School of Medicine, Kayseri, Turkey 2015 10 18 2015 10 18 Clericuzio-type poikiloderma with neutropenia (PN) is characterized by poikiloderma, non-cyclic  neutropenia,  recurrent  sinopulmonary  infections,  pachyonychia,  and  palmo- plantar hyperkeratosis. Mutations in the C16orf57 gene, which is located on chromosome 16q13, have been identified as the cause of PN. PN was first described by Clericuzio in Navajo Indians. Herein, we reported the clinical presentations and laboratory investigations of PN in three siblings from Turkey.The older siblings presented with typical cutaneous poikiloderma, plantar keratoderma, pachyonychia of toenails, and recurrent upper respiratory infections. As the most affected patient, in addition to classic manifestations, the youngest sibling had recurrent pneumonia, hepatosplenomegaly, dental caries, failure to thrive, and hand malformation.Genetic study revealed a homozygous mutation (c.531delA) in the C16orf57 gene in siblings.With the presented study, we aimed to draw attention to PN which can be a predisposing factor to malignancies. https://ijaai.tums.ac.ir/index.php/ijaai/article/view/575 https://ijaai.tums.ac.ir/index.php/ijaai/article/download/575/460