MDA5 deficiency
עודכן לאחרונה 18 Aug 2020
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MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and airways (respiratory tract) beginning in infancy. These infections are most frequently caused by rhinovirus (the virus that causes the common cold). Respiratory syncytial virus (RSV) and the influenza (flu) virus may also cause recurrent infections in affected individuals. While infection by these viruses is common in all children, it usually causes mild symptoms and lasts only a short time before being cleared by a healthy immune system. In contrast, individuals with MDA5 deficiency frequently require hospitalization due to the severity of the symptoms caused by the infection. Repeated infections can contribute to chronic lung disease.
תיאור
MDA5 deficiency is a disorder of the immune system (immunodeficiency) that leads to recurrent, severe infections of the lungs and airways (respiratory tract) beginning in infancy. These infections are most frequently caused by rhinovirus (the virus that causes the common cold). Respiratory syncytial virus (RSV) and the influenza (flu) virus may also cause recurrent infections in affected individuals. While infection by these viruses is common in all children, it usually causes mild symptoms and lasts only a short time before being cleared by a healthy immune system. In contrast, individuals with MDA5 deficiency frequently require hospitalization due to the severity of the symptoms caused by the infection. Repeated infections can contribute to chronic lung disease.
Infections usually become less frequent with age in people with MDA5 deficiency, as the body's immune system matures and develops other mechanisms for fighting viruses.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
IFIH1 deficiency
Related patient information and medicines
Patient information leaflet
המופיליה
המופיליה is a rare bleeding disorder that affects your ability to make a clot. The blood contains substances called clotting factors that work with platelets to form a clot. When you injure yourself the clot stops you bleeding. What is haemophilia. המופיליה is a rare bleeding disorder caused by deficiency of clotting factors. קרישה.
Patient information leaflet
האם אני יכול לקחת אסומפרזול ואינדפמיד יחד?
Why this happens Indapamide is a 'water pi... Esomeprazole מטופל? a proton pump inhibitor (PPI) that can reduce the amount of magnesium your body absorbs from food. When used together, these effects can add up, leading to a deficiency. הבהרה This information is for general educational purposes only and should not be relied upon as a substitute.
Patient information leaflet
חוסר בוויטמין A
ויטמין A מטופל? important for healthy eyes, good eyesight (vision), healthy skin and to help you fight infections. Vitamin A is sometimes also called retinol. Another substance called beta carotene (which is found in green leafy and orange/yellow vegetables and fruits) can also be converted by your body to vitamin A. Mild forms of vita... Vitamin A.
Patient information leaflet
האם אני יכול לקחת ויטמין C וויטמין D יחד?
There is no known negative interaction between Vitamin C (ascorbic acid) and Vitamin D (cholecalciferol). Vitamin C is water-soluble and Vitamin D is fat-soluble, meaning they do not compet... חוסר ב-G6PD Very high doses of vitamin C can cause oxidative stress and lead to the breakdown of red blood cells (haemolysis) in individuals with G6PD.
Patient information leaflet
האם אני יכול לקחת מגנזיום וויטמין C יחד?
There is no harmful interaction between magnesium and vitamin C. In fact, taking them together is generally considered safe and may even be slightly beneficial for absorption. Additionally, chronic alcohol use can lead to magnesium deficiency. Dairy products (Milk, Cheese, Yoghurt) Avoid taking magnesium supplements at the same time as large a....
Patient information leaflet
האם אני יכול לקחת חומצה פולית ומתוטרקסט יחד?
Folic acid can reduce the side effects of methotrexate, but taking it at the wrong time or in very high doses might make the מתוטרקסט less effective at treating your condition. Folic acid is a man-made version of folate. While it helps protect healthy cells from methotrexate's side effects, too much of it can "compete" with the medicine,.
קריאה נוספת והפניות
- MDA5 deficiency; MedlinePlus, National Library of Medicine.
- Asgari S, Schlapbach LJ, Anchisi S, Hammer C, Bartha I, Junier T, Mottet-Osman G, Posfay-Barbe KM, Longchamp D, Stocker M, Cordey S, Kaiser L, Riedel T, Kenna T, Long D, Schibler A, Telenti A, Tapparel C, McLaren PJ, Garcin D, Fellay J. Severe viral respiratory infections in children with IFIH1 loss-of-function mutations. Proc Natl Acad Sci U S A. 2017 Aug 1;114(31):8342-8347. doi: 10.1073/pnas.1704259114. Epub 2017 Jul 17.
- Berke IC, Yu X, Modis Y, Egelman EH. MDA5 assembles into a polar helical filament on dsRNA. Proc Natl Acad Sci U S A. 2012 Nov 6;109(45):18437-41. doi: 10.1073/pnas.1212186109. Epub 2012 Oct 22.
- Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC. Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J Exp Med. 2017 Jul 3;214(7):1949-1972. doi: 10.1084/jem.20161759. Epub 2017 Jun 12.
- Loo YM, Gale M Jr. Immune signaling by RIG-I-like receptors. Immunity. 2011 May 27;34(5):680-92. doi: 10.1016/j.immuni.2011.05.003.
- Zaki M, Thoenes M, Kawalia A, Nurnberg P, Kaiser R, Heller R, Bolz HJ. Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation. Front Genet. 2017 Sep 22;8:130. doi: 10.3389/fgene.2017.00130. eCollection 2017.
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