نتایج جستجو برای: hypogammaglobulinemia

تعداد نتایج: 1443  

Journal: :American journal of human genetics 2012
Gabriela Lopez-Herrera Giacomo Tampella Qiang Pan-Hammarström Peer Herholz Claudia M Trujillo-Vargas Kanchan Phadwal Anna Katharina Simon Michel Moutschen Amos Etzioni Adi Mory Izhak Srugo Doron Melamed Kjell Hultenby Chonghai Liu Manuela Baronio Massimiliano Vitali Pierre Philippet Vinciane Dideberg Asghar Aghamohammadi Nima Rezaei Victoria Enright Likun Du Ulrich Salzer Hermann Eibel Dietmar Pfeifer Hendrik Veelken Hans Stauss Vassilios Lougaris Alessandro Plebani E Michael Gertz Alejandro A Schäffer Lennart Hammarström Bodo Grimbacher

Most autosomal genetic causes of childhood-onset hypogammaglobulinemia are currently not well understood. Most affected individuals are simplex cases, but both autosomal-dominant and autosomal-recessive inheritance have been described. We performed genetic linkage analysis in consanguineous families affected by hypogammaglobulinemia. Four consanguineous families with childhood-onset humoral imm...

Journal: :Journal of investigational allergology & clinical immunology 2013
F E Cipe F Doğu D Güloğlu C Aytekin M Polat Z Biyikli A Ikincioğullari

BACKGROUND The pathogenesis of some primary humoral immunodeficiencies, such as transient hypogammaglobulinemia of infancy (THI) and immunoglobulin (Ig) A deficiency, remains unknown and can render diagnosis problematic. OBJECTIVE In the present study, we used flow cytometry to analyze peripheral blood B-cell subsets in patients with THI and unclassified hypogammaglobulinemia (UCH), partial I...

2017

We undertook this study to determine whether patients with late-onset hypogammaglobulinemia, who are at very high risk for gastric cancer, have a reduced secretion of gastrin after stimulation with food or bombe­ sin, a potent gastrin-releasing stimulus. We compared the plasma gastrin responses to bombesin and to a standard test meal in 18 patients with late-onset hypogammaglob­ ulinemia with t...

2017

We undertook this study to determine whether patients with late-onset hypogammaglobulinemia, who are at very high risk for gastric cancer, have a reduced secretion of gastrin after stimulation with food or bombe­ sin, a potent gastrin-releasing stimulus. We compared the plasma gastrin responses to bombesin and to a standard test meal in 18 patients with late-onset hypogammaglob­ ulinemia with t...

2017

We undertook this study to determine whether patients with late-onset hypogammaglobulinemia, who are at very high risk for gastric cancer, have a reduced secretion of gastrin after stimulation with food or bombe­ sin, a potent gastrin-releasing stimulus. We compared the plasma gastrin responses to bombesin and to a standard test meal in 18 patients with late-onset hypogammaglob­ ulinemia with t...

Journal: :Clinical and diagnostic laboratory immunology 2005
Raymond C S Seet Lee Gong Lau Paul Ananth Tambyah

We report strongyloides hyperinfection in two patients with generalized hypogammaglobulinemia from multiple myeloma and nephrotic syndrome, despite a significant strongyloides-specific immunoglobulin G (IgG) response. In contrast to reports on animals, where human IgG was shown to be a protective antibody, our observation suggests that in humans, immunity to the infective-stage larvae is not pr...

Journal: :Seizure 2012
Nihal Ozaras Nadir Goksugur Saliha Eroglu Omur Tabak Billur Canbakan Resat Ozaras

Carbamazepine is used to control seizures. Its common side effects are sleep disorders, anorexia, nausea, vomiting, polydipsia, irritability, ataxia, and diplopia. Involvement of the immune system is rare, and few cases of decreased immunoglobulin levels have been reported. We describe a patient with low immunoglobulin levels due to carbamazepine use who presented with recurrent urinary tract i...

Journal: :The New England journal of medicine 2014
Mohammed A Sadat Susan Moir Tae-Wook Chun Paolo Lusso Gerardo Kaplan Lynne Wolfe Matthew J Memoli Miao He Hugo Vega Leo J Y Kim Yan Huang Nadia Hussein Elma Nievas Raquel Mitchell Mary Garofalo Aaron Louie Derek C Ireland Claire Grunes Raffaello Cimbro Vyomesh Patel Genevieve Holzapfel Daniel Salahuddin Tyler Bristol David Adams Beatriz E Marciano Madhuri Hegde Yuxing Li Katherine R Calvo Jennifer Stoddard J Shawn Justement Jerome Jacques Debra A Long Priel Danielle Murray Peter Sun Douglas B Kuhns Cornelius F Boerkoel John A Chiorini Giovanni Di Pasquale Daniela Verthelyi Sergio D Rosenzweig

Genetic defects in MOGS, the gene encoding mannosyl-oligosaccharide glucosidase (the first enzyme in the processing pathway of N-linked oligosaccharide), cause the rare congenital disorder of glycosylation type IIb (CDG-IIb), also known as MOGS-CDG. MOGS is expressed in the endoplasmic reticulum and is involved in the trimming of N-glycans. We evaluated two siblings with CDG-IIb who presented w...

Journal: :Internal medicine 2010
Hideki Ozawa Satomi Asai Guilan Jin Yuya Hasunuma Chiharu Tanaka Takayuki Ikeda Moritsugu Kimura Akihiro Ueda Tomohiro Yamashita Hayato Miyachi

A 49-year-old female presented with diarrhea and a high fever followed by progressive dyspnea. Until this presentation, she had been healthy except for chronic dyspepsia and diarrhea. She had a smoking habit of 15 pack-years. Laboratory tests revealed lymphopenia, hypoalbuminemia and hypogammaglobulinemia. A rapid influenza test in combination with an RT-PCR assay revealed the presence of the n...

Journal: :Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie 2011
C Jurcuţ Mariana Jinga Raluca Costache Florina Vasilescu Alina Stănescu-Popp I Copaci

We present a case report of diffuse polypoid lesions of the digestive tract in which multiple endoscopic techniques (upper endoscopy, colonoscopy, and capsule endoscopy) were performed in order to complete and refine the diagnosis in a patient with severe hypogammaglobulinemia with recurrent infections, bronchiectasies and diffuse nodular lymphoid hyperplasia of the digestive tract. In patients...

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