Results 21 to 30 of about 733,986 (259)

NEUROENDOCRINE TUMOR IN A CHILD WITH COMMON VARIABLE IMMUNODEFICIENCY

Revista Paulista de Pediatria
Objective: To report a case of a child with primary immunodeficiency who at eight years developed digestive symptoms, culminating with the diagnosis of a neuroendocrine tumor at ten years of age.
Pedro de Souza Lucarelli Antunes, Heloísa Gabriel Tersariol, Mainã Marques Belém Veiga, Maria Conceição Santos de Menezes, Fabíola Del Carlo Bernardi, Wilma Carvalho Neves Forte   +5 more
doaj   +2 more sources

Properties and action mechanisms of intravenous gammaglobulin

Medicina, 2014
Intravenous immunoglobulins (IVIG) preparations have been used as a substitutive therapy for primary and secondary immunodeficiencies for many years; now it is well know that IVIG can have two other important and opposite functions: pro and anti ...
Núria Matamoros Flori
doaj   +1 more source

Myelodysplastic syndromes: Aspects of current medical care and economic considerations in Germany [PDF]

, 2008
Myelodysplastic syndromes (MDS) are a heterogeneous group of diseases mainly affecting older people. The use of an increasing number of therapeutic options depends on a systematic risk stratification of the patients.
Gattermann, Norbert, Karin Berger, Hofmann, Wolf-Karsten, Tsamaloukas, Anton, Wolf-Karsten Hofmann, Vollmer, Tanja, Plesnila-Frank, Carlotta, Berger, Karin, Wedding, Ulrich, Schramm, Wolfgang, Tanja Vollmer, Schmitz, Stephan, Wolfgang Schramm, Norbert Gattermann, Ulrich Wedding, Meeßen, Axel, Carlotta Plesnila-Frank, Stephan Schmitz, Axel Meessen, Anton Tsamaloukas   +19 more
core   +1 more source

Repercussions of inborn errors of immunity on growth

Jornal de Pediatria, 2019
Objectives: This study aimed to review the literature on the repercussions of the different inborn errors of immunity on growth, drawing attention to the diagnosis of this group of diseases in patients with growth disorders, as well as to enable the ...
Ekaterini Simões Goudouris, Gesmar Rodrigues Silva Segundo, Cecilia Poli   +2 more
doaj   +3 more sources

Carnitine Deficiency Syndromes

, 1996
Carnitine deficiency syndromes are reviewed from the Departments of Neurology and Pediatrics, Columbia Presbyterian Medical Center, New York ...
J Gordon Millichap, Millichap, J. Gordon
core   +1 more source

Pathogenic mechanisms and clinical implications of congenital neutropenia syndromes [PDF]

, 2013
Purpose of reviewThe purpose of this review is to summarize pathogenic mechanisms and clinical implications of the most illustrative genetic entities of congenital neutropenia syndromes.Recent findingsCongenital neutropenia comprise monogenetic entities ...
Klein, Christoph, Hauck, Fabian, Christoph Klein, Fabian Hauck   +3 more
core   +1 more source

Rare case of nephrotic syndrome: Schimke syndrome

Brazilian Journal of Nephrology
Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia.
Anna Kelly Krislane de Vasconcelos Pedrosa, Luiz Fernando Oliveira Torres, Ana Corina Brainer Amorim da Silva, Adrianna Barros Leal Dantas, Káthia Liliane da Cunha Ribeiro Zuntini, Lia Cordeiro Bastos Aguiar   +5 more
doaj   +1 more source

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency [PDF]

, 2009
Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex.
Racine, M, Naville, D., Nurnberg, G., Green, J, Metherell, L. A., Nurnberg, P, Krone, NP, Krone, N. P., Arlt, W, Tomlinson, Jeremy, Achermann, JC, Halaby, G, Tomlinson, J. W., Clark, A. J. L., Krone, Nils, Naville, D, Berney, D. M., Begeot, M., Huebner, A., Halaby, G., Green, J., Berney, DM, Clark, AJ, Lin, L, Lin, L., Racine, M., Arlt, Wiebke, Achermann, J. C., Arlt, W., Nurnberg, G, Metherell, LA, Tomlinson, JW, Begeot, M, Huebner, A, Nurnberg, P., Clark, AJL, Krone, Nils P, Green, Jane, Nuernberg, Peter, Tomlinson, Jeremy W, Begeot, Martine, Nuernberg, Gudrun, Racine, Michael, Clark, Adrian JL, Achermann, John C, Huebner, Angela, Lin, Lin, Halaby, George, Metherell, Louise A, Naville, Danielle, Berney, Dan M   +50 more
core   +1 more source

Deubiquitination of proteasome subunits by OTULIN regulates type I IFN production

, 2021
OTULIN is a linear deubiquitinase that negatively regulates the nuclear factor kappa B (NF-kappa B) signaling pathway. Patients with OTULIN deficiency, termed as otulipenia or OTULIN-related autoinflammatory syndrome, present with early onset severe ...
Aksentijevich, Ivona, SAĞ, ERDAL, TOPALOĞLU, REZAN, Zhou, Qing, Yang, Zhaohui, Fang, Ran, Zhang, Jiahui, Tsai, Wanxia Li, Wang, Jun, Lee, Pui Y., ÖZEN, SEZA, Yu, Xiaomin, Tao, Panfeng, Han, Huan, Yang, Huanming, Wang, Shihao, Erdal Sag, Jiahui Zhang, Shihao Wang, Huan Han, Ran Fang, Qing Zhou, Wanxia Li Tsai, Panfeng Tao, Zhaohui Yang, Pui Y. Lee, Ivona Aksentijevich, Rezan Topaloglu, Huanming Yang, Jun Wang, Seza Ozen, Xiaomin Yu   +31 more
core   +1 more source

Pediatric Idiopathic Multicentric Castleman Disease Is Often Severe But Responsive to Siltuximab

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Idiopathic multicentric Castleman disease (iMCD) is a potentially fatal immunologic disorder marked by widespread lymphadenopathy and inflammation. Siltuximab, an interleukin‐6 (IL‐6) inhibitor, is the only FDA‐approved treatment for adult patients with iMCD.
Bridget Austin, Sheila K. Pierson, Kelley C. Dacus, Mateo Sarmiento Bustamante, Saishravan Shyamsundar, Larissa Borys, Kayla McHugh, Abiola Irvine, Yoojin Jo, Adam Bagg, Mary Jo Lechowicz, Daisy Alapat, Amy Chadburn, Megan S. Lim, Gordan Srkalovic, Frits van Rhee, David C. Fajgenbaum, Joshua D. Brandstadter   +17 more
wiley   +1 more source