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2 results on '"Alexa Triot"'

1. Inherited biallelic CSF3R mutations in severe congenital neutropenia

Author

Jordi Yagüe, Dhaarini Murugan, José Sanchez de Toledo Codina, Christina Díaz de Heredia Rubio, Dietmar Pfeifer, Ivo P. Touw, Christoph Klein, Jacek Puchałka, Musa Karakukcu, Alexa Triot, Juan I. Aróstegui, Turkan Patiroglu, Jose Luis Dapena Díaz, Daniel Kotlarz, E. Michael Gertz, Päivi M Järvinen, Ekrem Unal, Alejandro A. Schäffer, Mehmet Akif Ozdemir, Tomas Racek, Naschla Kohistani, and Hematology

Subjects
Male, Neutropenia, Myeloid, Immunology, Mutation, Missense, Granulocyte, Biology, Compound heterozygosity, medicine.disease_cause, Biochemistry, Granulopoiesis, Phagocytes, Granulocytes, and Myelopoiesis, Receptors, Colony-Stimulating Factor, medicine, Congenital Bone Marrow Failure Syndromes, Humans, Missense mutation, Congenital Neutropenia, Mutation, Cell Biology, Hematology, medicine.disease, 3. Good health, medicine.anatomical_structure, Female
Abstract

Severe congenital neutropenia (SCN) is characterized by low numbers of peripheral neutrophil granulocytes and a predisposition to life-threatening bacterial infections. We describe a novel genetic SCN type in 2 unrelated families associated with recessively inherited loss-of-function mutations in CSF3R, encoding the granulocyte colony-stimulating factor (G-CSF) receptor. Family A, with 3 affected children, carried a homozygous missense mutation (NM_000760.3:c.922C>T, NP_000751.1:p.Arg308Cys), which resulted in perturbed N-glycosylation and aberrant localization to the cell surface. Family B, with 1 affected infant, carried compound heterozygous deletions provoking frame shifts and premature stop codons(NM_000760.3:c.948_963del, NP_000751.1: p. Gly316fsTer322 and NM_000760.3:c.1245del, NP_000751.1:p.Gly415fsTer432). Despite peripheral SCN, all patients had morphologic evidence of full myeloid cell maturation in bone marrow. None of the patients responded to treatment with recombinant human G-CSF. Our study highlights the genetic and morphologic SCN variability and provides evidence both for functional importance and redundancy of G-CSF receptor-mediated signaling in human granulopoiesis.

Published
2014
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2. Leptin hormone level in serum of opticospinal, neuromyelitisoptica and multiple sclerosis patients

Author

Sayyed Hamid Zarkesh-Esfahani, Masoud Etemadifar, Alexa Triot, Majid Bouzari, Amir H. Maghzi, Mohammad Taghi Kardi, Maryam Mostajeran, and Ehsan Bahrami

Subjects
medicine.medical_specialty, Expanded Disability Status Scale, Neuromyelitis optica, business.industry, Multiple sclerosis, Leptin, medicine.medical_treatment, digestive, oral, and skin physiology, Immunology, Central nervous system, Neuroscience (miscellaneous), medicine.disease, Pathogenesis, Endocrinology, Cytokine, medicine.anatomical_structure, Immunology and Microbiology (miscellaneous), Internal medicine, Medicine, Neurology (clinical), business, hormones, hormone substitutes, and hormone antagonists, Hormone
Abstract

Objectives A growing body of evidence shows that leptin acts as a pro-inflammatory cytokine in autoimmune disorders and is related to multiple sclerosis (MS) pathogenesis. The present study was an analysis of serum leptin levels among healthy volunteers and patients with different subtypes of MS, opticospinal MS (OSMS) and neuromyelitis optica (NMO). Methods Leptin concentrations in the sera of 121 healthy volunteers and 201 patients with different subtypes of MS, as well as in 27 NMO and 27 OSMS, were measured. Results Significant differences in leptin serum levels were observed between healthy volunteers, and MS, OSMS and NMO patients (P

Published
2014
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