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 clini...

A 34-year-old female with cyclic neutropenia is reported. Family studies showed that her three sons and her mother were also involved. Oscillations in the blood neutrophil counts were almost regular, with a periodicity of 21 days. Numbers of colony-forming unit--granulocyte macrophage (CFU-GM) formed from the bone marrow cells of normal volunteers co-cultured with the patient's serum or mononuc...

Granulocyte colony-stimulating factor (G-CSF) has had a major impact on management of "severe chronic neutropenia," a collective term referring to congenital, idiopathic, or cyclic neutropenia. Almost all patients respond to G-CSF with increased neutrophils, reduced infections, and improved survival. Some responders with congenital neutropenia have developed myelodysplastic syndrome and acute m...

A 22 years old patient presented with recurrent episodes of diarrhoea, pharyngitis, apthous ulcers and fever for the past 6 months. The episodes lasted a week each time. The patient was admitted and blood studies revealed neutropenia with increased number of Large Granular Lymphocytes. Later on it was found out that his neutrophil count dropped to less than 0.2 x 10(9)/L after every 3 weeks. Bo...

Granulocyte-macrophage progenitors (CFU-GM) from four patients with childhood onset cyclic neutropenia demonstrated abnormal in vitro proliferative responses to purified, recombinant human granulocyte-macrophage colony-stimulating factor (rhGM-CSF) when examined in detailed dose-response studies. Marrow aspirate specimens were obtained for these studies from cyclic neutropenia patients (both du...

OBJECTIVES Cyclic neutropenia (CN) is a rare genetic disorder where patients experience regular cycling of numbers of neutrophils and various other haematopoietic lineages. The nadir in neutrophil count is the main source of problems due to risk of life-threatening infections. Patients with CN benefit from granulocyte colony stimulating factor therapy, although cycling persists. Mutations in ne...

A seven year old boy with a history of cyclic neutropenia (CN) was admitted to the hospital after developing fever and chills following a bicycle accident. After admission, he had a rapidly deteriorating hospital course leading to shock and death. At autopsy, acute appendicitis with resultant peritonitis and sepsis was diagnosed. The peculiar clinical and microscopic aspects of this case will b...

This case report describes the oral manifestations of cyclic neutropenia observed in two siblings. OF particular importance were the repeated weekly blood studies required to correctly diagnose the problem. A single set of blood studies would probably Fail to identify the condition. Neutropenia, or agranulocytosis, is a condition characterized by a marked decrease or lack of circulating neutrop...

By JOHN E. LUND, GEoRGE A. PADCEYF AND RIChARD L. Orr C YCLIC NEUTROPENIA is a rare hematologic disorder characterized by the chronic, cyclical recurrence of severe neutropenia which has previously 1)een described only in humans. The neutropenia recurs approximately every 21 days and lasts from 3 to 10 days. The clinical manifestations of the disease are observed during the neutropenic phase of...