Recurrent and prolonged infections in a child with a homozygous IFIH1 nonsense mutation

Frontiers in Genetics

Volumn 8, Issue SEP, 2017, Pages

  Zaki, Maha ^a   Thoenes, Michaela ^b   Kawalia, Amit ^c   Nürnberg, Peter ^c,d   Kaiser, Rolf ^b   Heller, Raoul ^b   Bolz, Hanno J ^b  

^a NATIONAL RESEARCH CENTRE   (Egypt)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Consanguinity; IFIH1; Immunodeficiency; Infection; Loss of function; Whole exome sequencing

Indexed keywords

ACICLOVIR; AMANTADINE; CLONAZEPAM; GANCICLOVIR; IMMUNOGLOBULIN G3; IMMUNOGLOBULIN G4; INTERFERON; INTERFERON INDUCED HELICASE C DOMAIN CONTAINING PROTEIN 1; INTERFERON REGULATORY FACTOR 7; LEVETIRACETAM; METHISOPRINOL; PHOSPHOGLYCERATE DEHYDROGENASE; VALPROIC ACID;

ANTIBIOTIC THERAPY; ARTHROGRYPOSIS; ARTICLE; AUTOIMMUNE DISEASE; CASE REPORT; CATARACT EXTRACTION; CHEST INFECTION; CHILD; CLINICAL ARTICLE; CONGENITAL CATARACT; CONSANGUINITY; ELECTROENCEPHALOGRAPHY; EPILEPSY; EPSTEIN BARR VIRUS INFECTION; FEMALE; FEVER; FIBROBLAST; GAIN OF FUNCTION MUTATION; HUMAN; HUMAN CELL; HYPSARRHYTHMIA; IMMUNE DEFICIENCY; INFLUENZA; LOSS OF FUNCTION MUTATION; MICROCEPHALY; MUSCLE HYPERTONIA; MYOCLONUS; NONSENSE MEDIATED MRNA DECAY; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIATRICS; PICORNAVIRIDAE; PRESCHOOL CHILD; PSYCHOMOTOR RETARDATION; RECURRENT INFECTION; SEIZURE; SPASTICITY; VIRUS INFECTION; WESTERN BLOTTING; WHOLE EXOME SEQUENCING;

EID: 85030085118     PISSN: None     EISSN: 16648021     Source Type: Journal    
DOI: 10.3389/fgene.2017.00130     Document Type: Article

References (25)

1. Asgari, S., Schlapbach, L. J., Anchisi, S., Hammer, C., Bartha, I., Junier, T., et al. (2017). Severe viral respiratory infections in children with IFIH1 loss-of-function mutations. Proc. Natl. Acad. Sci. U.S.A. 114, 8342-8347. doi: 10.1073/pnas.1704259114
2. Ciancanelli, M. J., Huang, S. X., Luthra, P., Garner, H., Itan, Y., Volpi, S., et al. (2015). Infectious disease. Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency. Science 348, 448-453. doi: 10.1126/science.aaa1578
3. Cohen, J. I. (2015). Primary immunodeficiencies associated with EBV disease. Curr. Top. Microbiol. Immunol. 390(Pt 1), 241-265. doi: 10.1007/978-3-319-22822-8_10
4. de Koning, T. J. (2006). Treatment with amino acids in serine deficiency disorders. J. Inherit. Metab. Dis. 29, 347-351. doi: 10.1007/s10545-006-0269-0
5. del Toro Duany, Y., Wu, B., and Hur, S. (2015). MDA5-filament, dynamics and disease. Curr. Opin. Virol. 12, 20-25. doi: 10.1016/j.coviro.2015.01.011
6. Dobbs, K., Dominguez Conde, C., Zhang, S. Y., Parolini, S., Audry, M., Chou, J., et al. (2015). Inherited DOCK2 deficiency in patients with early-onset invasive infections. N. Engl. J. Med. 372, 2409-2422. doi: 10.1056/NEJMoa1413462
7. Errett, J. S., Suthar, M. S., McMillan, A., Diamond, M. S., and Gale, M. Jr. (2013). The essential, nonredundant roles of RIG-I and MDA5 in detecting and controlling West Nile virus infection. J. Virol. 87, 11416-11425. doi: 10.1128/JVI.01488-13
8. Falls, H. F., Kruse, W. T., and Cotterman, C. W. (1949). Three cases of Marcus Gunn phenomenon in two generations. Am. J. Ophthalmol. 32(Pt. 2), 53-59
9. Funabiki, M., Kato, H., Miyachi, Y., Toki, H., Motegi, H., Inoue, M., et al. (2014). Autoimmune disorders associated with gain of function of the intracellular sensor MDA5. Immunity 40, 199-212. doi: 10.1016/j.immuni.2013.12.014
10. Ivashkiv, L. B., and Donlin, L. T. (2014). Regulation of type I interferon responses. Nat. Rev. Immunol. 14, 36-49. doi: 10.1038/nri3581
11. Jaeken, J., Detheux, M., Van Maldergem, L., Foulon, M., Carchon, H., and Van Schaftingen, E. (1996). 3-Phosphoglycerate dehydrogenase deficiency: an inborn error of serine biosynthesis. Arch. Dis. Child. 74, 542-545
12. Klomp, L. W., de Koning, T. J., Malingre, H. E., van Beurden, E. A., Brink, M., Opdam, F. L., et al. (2000). Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency-a neurometabolic disorder associated with reduced L-serine biosynthesis. Am. J. Hum. Genet. 67, 1389-1399. doi: 10.1086/316886
13. Lamborn, I. T., Jing, H., Zhang, Y., Drutman, S. B., Abbott, J. K., Munir, S., et al. (2017). Recurrent rhinovirus infections in a child with inherited MDA5 deficiency. J. Exp. Med. 214, 1949-1972. doi: 10.1084/jem.20161759
14. Miron, D., Merzel, Y., Lev, A., Meir, J. J., and Horowitz, Y. (2002). Pleuropneumonia as the sole manifestation of Epstein-Barr virus-associated infectious mononucleosis. Isr. Med. Assoc. J. 4, 733-734
15. Molineros, J. E., Maiti, A. K., Sun, C., Looger, L. L., Han, S., Kim-Howard, X., et al. (2013). Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production. PLOS Genet. 9:e1003222. doi: 10.1371/journal.pgen.1003222
16. Nejentsev, S., Walker, N., Riches, D., Egholm, M., and Todd, J. A. (2009). Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324, 387-389. doi: 10.1126/science.1167728
17. Oda, H., Nakagawa, K., Abe, J., Awaya, T., Funabiki, M., Hijikata, A., et al. (2014). Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am. J. Hum. Genet. 95, 121-125. doi: 10.1016/j.ajhg.2014.06.007
18. Rice, G. I., del Toro Duany, Y., Jenkinson, E. M., Forte, G. M., Anderson, B. H., Ariaudo, G., et al. (2014). Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat. Genet. 46, 503-509. doi: 10.1038/ng.2933
19. Rutsch, F., MacDougall, M., Lu, C., Buers, I., Mamaeva, O., Nitschke, Y., et al. (2015). A specific IFIH1 gain-of-function mutation causes Singleton-Merten syndrome. Am. J. Hum. Genet. 96, 275-282. doi: 10.1016/j.ajhg.2014.12.014
20. Saunders, C. J., Miller, N. A., Soden, S. E., Dinwiddie, D. L., Noll, A., Alnadi, N. A., et al. (2012). Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units. Sci. Transl. Med. 4:154ra135. doi: 10.1126/scitranslmed.3004041
21. Smith, L. D., Willig, L. K., and Kingsmore, S. F. (2016). Whole-exome sequencing and whole-genome sequencing in critically Ill neonates suspected to have single-gene disorders. Cold Spring Harb. Perspect. Med. 6:a023168. doi: 10.1101/cshperspect.a023168
22. Smith, Q. R., Momma, S., Aoyagi, M., and Rapoport, S. I. (1987). Kinetics of neutral amino acid transport across the blood-brain barrier. J. Neurochem. 49, 1651-1658
23. Svobodova, T., Mejstrikova, E., Salzer, U., Sukova, M., Hubacek, P., Matej, R., et al. (2015). Diffuse parenchymal lung disease as first clinical manifestation of GATA-2 deficiency in childhood. BMC Pulm. Med. 15:8. doi: 10.1186/s12890-015-0006-2
24. Tabatabaie, L., de Koning, T. J., Geboers, A. J., van den Berg, I. E., Berger, R., and Klomp, L. W. (2009). Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics. Hum. Mutat. 30, 749-756. doi: 10.1002/humu.20934
25. Van Eyck, L., De Somer, L., Pombal, D., Bornschein, S., Frans, G., Humblet-Baron, S., et al. (2015). Brief report: IFIH1 mutation causes systemic lupus erythematosus with selective IgA deficiency. Arthritis Rheumatol. 67, k1592-1597. doi: 10.1002/art.39110