MDA5 deficiency
Última actualización 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.
Descripción
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.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
IFIH1 deficiency
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Lecturas adicionales y referencias
- 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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