Results 31 to 40 of about 155,356 (377)

NEUROENDOCRINE TUMOR IN A CHILD WITH COMMON VARIABLE IMMUNODEFICIENCY

open access: yesRevista 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   +5 more
doaj   +2 more sources

Repercussions of inborn errors of immunity on growth

open access: yesJornal 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   +2 more
doaj   +3 more sources

Properties and action mechanisms of intravenous gammaglobulin

open access: yesMedicina, 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

Liver transplantation for type IV glycogen storage disease [PDF]

open access: yes, 1991
TYPE IV glycogen storage disease is a rare autosomal recessive disorder (also called Andersen's disease1 or amylopectinosis) in which the activity of branching enzyme alpha-1, 4-glucan: alpha-1, 4-glucan 6-glucosyltransferase is deficient in the liver as
Andreas Tzakis   +17 more
core   +1 more source

Rare case of nephrotic syndrome: Schimke syndrome

open access: yesBrazilian 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   +5 more
doaj   +1 more source

Reciprocal control of viral infection and phosphoinositide dynamics

open access: yesFEBS Letters, EarlyView.
Phosphoinositides, although scarce, regulate key cellular processes, including membrane dynamics and signaling. Viruses exploit these lipids to support their entry, replication, assembly, and egress. The central role of phosphoinositides in infection highlights phosphoinositide metabolism as a promising antiviral target.
Marie Déborah Bancilhon, Bruno Mesmin
wiley   +1 more source

Lung disease in primary antibody deficiency. [PDF]

open access: yes, 2015
This Review summarises current knowledge on the pulmonary manifestations of primary antibody deficiency (PAD) syndromes in adults. We describe the major PAD syndromes, with a particular focus on common variable immunodeficiency (CVID).
Grimbacher, B, Hurst, JR, Verma, N
core   +1 more source

Structural biology of ferritin nanocages

open access: yesFEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Gut microbiome and aging—A dynamic interplay of microbes, metabolites, and the immune system

open access: yesFEBS Letters, EarlyView.
Age‐dependent shifts in microbial communities engender shifts in microbial metabolite profiles. These in turn drive shifts in barrier surface permeability of the gut and brain and induce immune activation. When paired with preexisting age‐related chronic inflammation this increases the risk of neuroinflammation and neurodegenerative diseases.
Aaron Mehl, Eran Blacher
wiley   +1 more source

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