نتایج جستجو برای: atypical scid

تعداد نتایج: 54097  

Journal: :iranian journal of allergy, asthma and immunology 0
maryam nourizadeh immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran. stephan borte division of clinical immunology, department of laboratory medicine, karolinska university hospital huddinge, stockholm, sweden and jeffrey modell diagnostic and research center for primary immunodeficiencies, municipal hospital st. georg, leipzig, germany. mohammadreza fazlollahi immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran. lennart hammarström division of clinical immunology, department of laboratory medicine, karolinska university hospital huddinge, stockholm, sweden. zahra pourpak immunology, asthma and allergy research institute, tehran university of medical sciences, tehran, iran.

severe combined immunodeficiency (scid) represents a rare group of primary immunodeficiency disorders (pids), with known or unknown genetic alterations. here, we report a new interleukin 2 receptor, gamma chain (il-2rg) mutation in an iranian scid newborn.the patient was a 6-day old boy with a family history of pid. the child was screened using a molecular-based analysis for the assessment of t...

Journal: :Blood 1993
R Namikawa R Ueda S Kyoizumi

It has been shown previously that multilineage human hematopoiesis is maintained within human fetal bone marrow (BM) fragments implanted into severe combined immunodeficient (SCID) mice. We describe here an application of this animal model, the SCID-hu mouse, to the study of human myeloid leukemias. BM cells from 8 patients with various types of myeloid leukemias were injected directly into hum...

Journal: :Blood 1996
N Taylor L Uribe S Smith T Jahn D B Kohn K Weinberg

X-SCID, the most common form of human SCID, is due to mutations in the common gamma chain gene (gamma-c) that encodes an essential component of the cytokine receptors for interleukin-2 (IL-2), IL-4, IL-7, IL-9, and IL-15. Activation of the Janus family tyrosine kinases Jak1 and Jak3 is necessary for appropriate signalling through the IL-2 receptor (IL-2R). Neither Jak1 nor Jak3 was phosphorylat...

Journal: :Comprehensive psychiatry 2012
Ahmad Hajebi Abbas Motevalian Masoumeh Amin-Esmaeili Mitra Hefazi Reza Radgoodarzi Afarin Rahimi-Movaghar Vandad Sharifi

OBJECTIVE The current study aims to compare telephone vs face-to-face administration of the version of Structured Clinical Interview for Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition, (SCID) for diagnosis of "any psychotic disorder" in a clinical population in Iran. METHOD The sample consisted of 72 subjects from 2 psychiatric outpatient services in Tehran, Iran. The s...

Journal: :Journal of immunology 2001
K Meek L Kienker C Dallas W Wang M J Dark P J Venta M L Huie R Hirschhorn T Bell

We recently described the incidence of a SCID disease in a litter of Jack Russell terriers. In this study, we show that the molecular defect in these animals is faulty V(D)J recombination. Furthermore, we document a complete deficit in DNA-dependent protein kinase activity that can be explained by a marked diminution in the expression of the catalytic subunit DNA-dependent protein kinase cataly...

2006
GastÃ3nR. Picchio Ryo Kobayashi Marybeth Kirven Stephen M. Baird Thomas J. Kipps Donald E. Mosier

Epstein-Barr virus (EBV) is associated with B-cell malignancy in immunosuppressed humans and SCID mice receiving human peripheral blood leukocyte grafts (hu-PBL-SCID). We have further characterized the process of lymphoma development in hu-PBL-SCID mice. We report that EBV-seropositive donors differ markedly in the capacity of their PBL to give rise to immunoblastic lymphomas in SCID mice; some...

Journal: :Clinical and diagnostic laboratory immunology 2004
Debra C Sellon Donald P Knowles Ellis C Greiner Maureen T Long Melissa T Hines Tressa Hochstatter Ahmed Tibary John B Dame

Equine protozoal myeloencephalitis is a progressive neurologic disease of horses most commonly caused by infection with the apicomplexan parasite Sarcocystis neurona. Factors affecting neuroinvasion and neurovirulence have not been determined. We investigated the pathogenesis of infection with S. neurona in horses with severe combined immune deficiency (SCID). Two immunocompetent (IC) Arabian h...

Journal: :The Tohoku journal of experimental medicine 2009
Yasuyo Kashiwagi Hisashi Kawashima Naoki Kato Kouji Takekuma Akinori Hoshika Satoru Kumaki

Severe combined immunodeficiency (SCID) is an inherited disease with profoundly defective T cells, B cells, and NK cells. X-linked severe combined immunodeficiency (X-SCID) is its most common form. In this report, we describe a 4-month old male with X-SCID who also showed opisthotonic posturing. Opisthotonus represents abnormal motor posturing and is defined as the posturing, in which the neck ...

Journal: :Blood 1997
J M Puck A E Pepper P S Henthorn F Candotti J Isakov T Whitwam M E Conley R E Fischer H M Rosenblatt T N Small R H Buckley

Severe combined immunodeficiency (SCID) is a syndrome of profoundly impaired cellular and humoral immunity. In humans, SCID is most commonly caused by mutations in the X-linked gene IL2RG, which encodes the common gamma chain, gamma c, of the leukocyte receptors for interleukin-2 and multiple other cytokines. To investigate the frequency and variety of IL2RG mutations that cause SCID, we analyz...

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