Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive primary immunodeficiency characterised by immune dysregulation, microthrombocytopaenia, eczema and lymphoid malignancies. Mutations in the WAS gene can lead to distinct syndrome variations which largely, although not exclusively, depend upon the mutation. Premature termination and deletions abrogate Wiskott-Aldrich syndrome protein (WA...

A case of poikiloderma developed polymyositis ten years after the onset of skin changes. This rare case of poikilodermatomyositis, hitherto not reported from Asian continent, is documented.

In the article presented, authors discuss problem of providing high-quality medical care to older patients with cancer. The work focuses on examining patient based a comprehensive geriatric assessment (CGA), including urgent situations related malignant neoplasm. protocol provides an overview hypercalcemia, tumor disintegration syndrome, spinal cord compression, neutropenia. issue educational n...

BACKGROUND Neutropenic patients are at risk of abdominal complications and yet the incidence and impact of these complications on patients' morbidity and mortality have not been sufficiently evaluated. We aimed to assess a clinical rule for early detection of abdominal complications leading to death or transfer to intensive care in patients with chemotherapy-associated neutropenia. DESIGN AND...

Background:Chemotherapy-induced neutropenia as a major toxicity of systemic chemotherapy is commonly associated with substantial mortality and morbidity, and thus identifying its determinants is necessary. This study was undertaken to identify main risk factors of severe neutropenia following adjuvant chemotherapy treatment in a community-based population of patients with cancer in Semnan, I...

BACKGROUND Kindler syndrome (KS) is an autosomal recessive skin disease characterized by actual blistering, photosensitivity and a progressive poikiloderma. The disorder results from rare mutations in the KIND1 gene. This gene contains 15 exons and expresses two kindlin-1 isoforms. OBJECTIVE The aim of this investigation was to analyze mutations in the exons 1 to 15 of KIND1 gene in an Irania...

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...

BACKGROUND Kindler syndrome (online Mendelian Inheritance in Man No. 173650) is an autosomal recessive genodermatosis characterized by acral trauma-induced blistering that improves with age and by progressive poikiloderma in later life. Other clinical features include photosensitivity, webbing of the fingers and toes, nail dystrophy, periodontal disease, and mucosal alterations. Aside from esop...