A patient with pancreatic insufficiency and cyclical neutropenia is described who also has evidence of hepatic dysfunction. He and 3 other patients whose findings are given emphasize the wide range of abnormalities seen in this syndrome.

We have developed a mathematical model for the peripheral regulation of neutrophil production mediated by granulocyte colony-stimulating factor. We have used that model to show that the pattern of neutrophil oscillations in nine grey collies is consistent with the hypothesis that cyclical neutropenia is due to an oscillatory stem cell input to the neutrophil regulatory system, and not due to au...

We present a dynamical model of the production and regulation of circulating blood neutrophil number. This model is derived from physiologically relevant features of the hematopoietic system, and is analysed using both analytic and numerical methods. Supercritical Hopf bifurcations and saddle-node bifurcations of limit cycles are shown to exist. We make the estimation of kinetic parameters for ...

severe congenital neutropenia is one of primary immunodeficiency disorders that characterized by severe neutropenia and is associated with severe systemic bacterial infections from  early  infancy.  granulocyte  colony  stimulating  factor  (gcsf)  is  clinically  used  as  a treatment for congenital and acquired neutropenia. the aim of this study was evaluation of gcsf (pd- grastim) in treatme...

Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of cardiolipin and abnormalities in mitochondria stability and energy production. Here we report on a novel c.285-1G>C splice site mutation in intron 3 ...

Our experience in the treatment of a 4-year-old boy with cyclic neutropenia who was admitted for urgent appendectomy is described. The postoperative course was uneventful with high daily doses of granulocyte colony-stimulating factor and antimicrobial therapy. The purpose of this report is to highlight the importance of immediate appendectomy in neutropenic patients, wherein low absolute neutro...

Introduction Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Restless, headache, abdominal pain, vomiting, hepatosplenomegaly and arthralgia are less common symptoms seeing in this disease. The diagnosis is established on the basis of clinical criteria that require the presence of a recurrent...

Methods The HRF panel includes MEFV, MVK, NLRP3, TNFRSF1A, PSTPIP1, LPIN2 and ELANE, which are associated with familial Mediterranean fever (FMF), hyper-IgD syndrome, cryopyrin-associated periodic syndrome, tumor necrosis factor receptor-associated periodic syndrome (TRAPS), pyogenic sterile arthritis-pyoderma gangrenosum and acne syndrome, Majeed syndrome, and cyclic/severe congenital neutrope...