In the 40 years since Harvard medical student Gilbert Omenn first described a rare, inherited disorder producing a paradoxical combination of immunodeficiency and immune dysregulation, the pathogenesis of Omenn syndrome (OS) has remained mysterious. In separate studies reported in this issue of the JCI, two mouse models bearing mutations in the V(D)J recombinase analogous to those causing human...

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflamma...

1. Beilan J, Lawton A, Hajdenberg J, et al. Pheochromocytoma of the urinary bladder: a systematic review of the contemporary literature. BMC Urol. 2013;13:22. 2. Martins DL, Baroni RH, Blasbalg R, et al. Evaluation of adrenal tumors by magnetic resonance imaging with histological correlation. Radiol Bras. 2008;41:55–62. 3. Wong EMH, Lai TCT, Tsu JHL, et al. Primary paraganglioma of urinary blad...

INTRODUCTION Autoimmune hepatitis (AIH) and overlap-syndrome (OS) are autoimmune liver diseases of unknown etiology. Although HLA-DR3/DR4 plays a susceptibility role in AIH but there is limited information in regard to OS. OBJECTIVE Determine the genetic expression of HLA-DR among patients with AIH versus OS in order to establish susceptibility alleles in comparison to healthy controls (HC). ...

Introduction OS characterized by symptoms of severe combined immunodeficiency (SCID), in association with the cardinal triad of hepatosplenomegaly, lymphadenopathy and erythroderma. Immunological defects are rarely present at birth and generally occur during the first months of life with hyperesinophilia, hypogammaglobulinemia, high IgE levels in spite of lacking circulating B cells. Different ...

Background : Post-occlusive reactive hyperemia (RH) is impaired in Chronic Obstructive Pulmonary Disease (COPD) and Obstructive Sleep Apnea (OSA). The aim of the present study was to examine systemic vascular response and endothelial function in patients of Overlap Syndrome (OS) of COPD and OSA and also to investigate whether OS has any additional effect on endothelial dysfunction when compared...

Omenn Syndrome (OS) is a rare autosomal recessive form of severe combined immunodeficiency characterized by failure to thrive, erythroderma, persistent diarrhea, lymphadenopathy, hepatosplenomegaly; severe recurrent infections [1]. The syndrome may be accompanied by normal or elevated levels of IgE, lymphocytosis, eosinophilia and hypogammaglobinemia [1]. The syndrome, also known as familial re...

Observation: Olmsted syndrome (OS) is a very rare genetic disorder, which includes diffuse alopecia, leukokeratose of oral mucosa, onychodystrophy , hyperkeratotic linear streaks, follicular keratosis and anhidrosis. Pseudomonilethrix shaft anomaly is characterized by hair shafts with elliptical nodes at variable intervals and separated by narrower internodes. To the best of our knowledge, we p...

Omenn Syndrome (OS) is a rare autosomal recessive form of severe combined immunodeficiency characterized by failure to thrive, erythroderma, persistent diarrhea, lymphadenopathy, hepatosplenomegaly; severe recurrent infections [1]. The syndrome may be accompanied by normal or elevated levels of IgE, lymphocytosis, eosinophilia and hypogammaglobinemia [1]. The syndrome, also known as familial re...

Omenn Syndrome (OS) is a rare autosomal recessive form of severe combined immunodeficiency characterized by failure to thrive, erythroderma, persistent diarrhea, lymphadenopathy, hepatosplenomegaly; severe recurrent infections [1]. The syndrome may be accompanied by normal or elevated levels of IgE, lymphocytosis, eosinophilia and hypogammaglobinemia [1]. The syndrome, also known as familial re...