Results 31 to 40 of about 138,687 (371)

Characteristics of Good's Syndrome in China: A Systematic Review

Chinese Medical Journal, 2017
Background: Good's syndrome (GS) is a rare disease characterized by thymoma, hypogammaglobulinemia, low or absent B-cells, decreased T-cells, an inverted CD4+/CD8+ T-cell ratio and reduced T-cell mitogen proliferative responses.
Jin-Pei Dong, Wen Gao, Gui-Gen Teng, Yu Tian, Hua-Hong Wang   +4 more
doaj   +1 more source

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

Subcutaneous IgG Replacement Therapy by Push in 32 Patients with Primary Immunodeficiency Diseases in Argentine [PDF]

, 2014
Introduction: Regular replacement with immunoglobulin infusions is the mainstay of treatment in the majority of primary immunodeficiencies. Several studies showed that Subcutaneous Immunoglobulin (SCIG) has similar efficacy to Intravenous Immunoglobulin (
Bezrodnik, Liliana, Díaz Ballve, Damacia, Giovanni, Daniela Di, Gómez Raccio, Andrea, Moreira, Ileana, Regairaz, Lorena, Seminario, Gisela   +6 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

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

Ataxia-telangiectasia: Linkage analysis in highly inbred Arab and Druze families and differentiation from an ataxia-microcephaly-cataract syndrome [PDF]

, 1992
Ataxia-telangiectasia (A-T) is a progressive autosomal recessive disease featuring neurodegeneration, immunodeficiency, chromosomal instability, radiation sensitivity and a highly increased proneness to cancer.
Abeliovicz, D. (Dvorah), Borochowitz, Z. (Z.), Dagan, E. (Efrat), Dar, H. (H.), Frydman, M. (Moshe), Gatti, A. (Arianna), Jaspers, N.G.J. (Nicolaas), Julier, C. (C.), Lange, E.M. (Ethan), Lathrop, M. (Mark), Rotman, G. (Galit), Shiloh, Y. (Yosef), Zelnik, N. (N.), Ziv, Y. (Yael)   +13 more
core   +2 more sources

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

The epithelial barrier theory proposes a comprehensive explanation for the origins of allergic and other chronic noncommunicable diseases

FEBS Letters, EarlyView.
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu, Huseyn Babayev, Ismail Ogulur, Sena Ardicli, Yagiz Pat, Duygu Yazici, Bingjie Zhao, Lihong Chang, Xiaoqing Liu, Paolo D'Avino, Manru Li, Ceren Biçer, Fatma Hacer Kurtoğlu Babayev, Raja Dhir, Kari C. Nadeau, Marie‐Charlotte Brüggen, Mubeccel Akdis, Cezmi A. Akdis   +17 more
wiley   +1 more source

22q11.2 deletion syndrome [PDF]

, 2015
22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder, estimated to result mainly from de novo non-homologous meiotic recombination events occurring in approximately 1 in every 1,000 fetuses. The first description in
Bassett, Anne S., Emanuel, Beverly S., Marino, Bruno, McDonald-McGinn, Donna M., Morrow, Bernice E., Philip, Nicole, Scambler, Peter J., Sullivan, Kathleen E., Swillen, Ann, Vermeesch, Joris R., Vorstman, Jacob A. S., Zackai, Elaine H.   +11 more
core   +1 more source

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source