A novel kindred with inherited STAT2 deficiency and severe viral illness

Journal of Allergy and Clinical Immunology

Volumn 139, Issue 6, 2017, Pages 1995-1997.e9

  Moens, Leen ^a   Van Eyck, Lien ^a   Jochmans, Dirk ^b   Mitera, Tania ^b   Frans, Glynis ^a   Bossuyt, Xavier ^a   Matthys, Patrick ^b   Neyts, Johan ^b   Ciancanelli, Michael ^f   Zhang, Shen Ying ^f,g,i   Gijsbers, Rik ^e   Casanova, Jean Laurent ^f,g,h,i,j   Boisson Dupuis, Stephanie ^f,g,i   Meyts, Isabelle ^c,d   Liston, Adrian ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

^b REGA INSTITUTE FOR MEDICAL RESEARCH   (Belgium)

^c Department of Immunology and Microbiology   (Belgium)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e DEPARTMENT OF PHARMACEUTICAL AND PHARMACOLOGICAL SCIENCES   (Belgium)

^f ROCKEFELLER UNIVERSITY   (United States)

^g IMAGINE INSTITUTE   (France)

^h HÔPITAL NECKER ENFANTS MALADES   (France)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; COMPLEMENTARY DNA; GAMMA INTERFERON; IMMUNOGLOBULIN; IMMUNOGLOBULIN G; INTERFERON REGULATORY FACTOR; INTERFERON REGULATORY FACTOR 3; ISG15 PROTEIN; MEASLES MUMPS RUBELLA VACCINE; MYXOVIRUS RESISTANCE PROTEIN A; OAS1 PROTEIN; STAT1 PROTEIN; STAT2 PROTEIN; TOLL LIKE RECEPTOR 3; UNCLASSIFIED DRUG; INTERFERON;

ANTIINFLAMMATORY ACTIVITY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CELL SURVIVAL; CHILD; CLINICAL ARTICLE; DRUG MEGADOSE; FIBROBLAST; GENE MUTATION; HETEROZYGOTE; HUMAN; INFANCY; INFECTION RISK; LIMIT OF DETECTION; MEASLES; NONSENSE MEDIATED MRNA DECAY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD; SIBLING; SUBACUTE SCLEROSING PANENCEPHALITIS; TREATMENT RESPONSE; UPREGULATION; VESICULAR STOMATITIS; VIRUS INFECTION; WHOLE EXOME SEQUENCING; ADAPTIVE IMMUNITY; AUTOSOMAL RECESSIVE DISORDER; FIBROSARCOMA CELL LINE; IMMUNIZATION; IMMUNOBLOTTING; MACROPHAGE ACTIVATION; NONHUMAN; OPSOCLONUS MYOCLONUS SYNDROME; PEDIGREE ANALYSIS; PENETRANCE; PROTEIN DEFICIENCY; SIGNAL TRANSDUCTION; VESICULOVIRUS; ALLELE; DEFICIENCY; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC PREDISPOSITION; GENOTYPE; MALE; PEDIGREE; SEVERITY OF ILLNESS INDEX; WHOLE GENOME SEQUENCING;

ALLELES; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; PEDIGREE; SEVERITY OF ILLNESS INDEX; STAT2 TRANSCRIPTION FACTOR; VIRUS DISEASES; WHOLE GENOME SEQUENCING;

EID: 85009275020     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2016.10.033     Document Type: Article

References (17)

1. Hambleton, S., Goodbourn, S., Young, D.F., Dickinson, P., Mohamad, S.M., Valappil, M., et al. STAT2 deficiency and susceptibility to viral illness in humans. Proc Natl Acad Sci U S A 110 (2013), 3053–3058.
2. Shahni, R., Cale, C.M., Anderson, G., Osellame, L.D., Hambleton, S., Jacques, T.S., et al. Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain 138 (2015), 2834–2846.
3. Dupuis, S., Jouanguy, E., Al-Hajjar, S., Fieschi, C., Al-Mohsen, I.Z., Al-Jumaah, S., et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33 (2003), 388–391.
4. Vairo, D., Tassone, L., Tabellini, G., Tamassia, N., Gasperini, S., Bazzoni, F., et al. Severe impairment of IFN-γ and IFN-α responses in cells of a patient with a novel STAT1 splicing mutation. Blood 118 (2011), 1806–1817.
5. Buchanan, R., Bonthius, D.J., Measles virus and associated central nervous system sequelae. Semin Pediatr Neurol 19 (2012), 107–114.
6. Munz, C., Dendritic cells during Epstein Barr virus infection. Front Microbiol, 5, 2014, 308.
7. Zhang, S.Y., Herman, M., Ciancanelli, M.J., Pérez de Diego, R., Sancho-Shimizu, V., Abel, L., et al. TLR3 immunity to infection in mice and humans. Curr Opin Immunol 25 (2013), 19–33.
8. Chapgier, A., Kong, X.F., Boisson-Dupuis, S., Jouanguy, E., Averbuch, D., Feinberg, J., et al. A partial form of recessive STAT1 deficiency in humans. J Clin Invest 119 (2009), 1502–1514.
9. Boisson-Dupuis, S., Kong, X.F., Okada, S., Cypowyj, S., Puel, A., Abel, L., et al. Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes. Curr Opin Immunol 24 (2012), 364–378.
10. Chapgier, A., Boisson-Dupuis, S., Jouanguy, E., Vogt, G., Feinberg, J., Prochnicka-Chalufour, A., et al. Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease. PLoS Genet, 2, 2006, e131.
11. Sommereyns, C., Paul, S., Staeheli, P., Michiels, T., IFN-lambda (IFN-lambda) is expressed in a tissue-dependent fashion and primarily acts on epithelial cells in vivo. PLoS Pathog, 4, 2008, e1000017.
12. Zhou, Z., Hamming, O.J., Ank, N., Paludan, S.R., Nielsen, A.L., Hartmann, R., Type III interferon (IFN) induces a type I IFN-like response in a restricted subset of cells through signaling pathways involving both the Jak-STAT pathway and the mitogen-activated protein kinases. J Virol 81 (2007), 7749–7758.
13. Casanova, J.L., Abel, L., Quintana-Murci, L., Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics. Annu Rev Immunol 29 (2011), 447–491.
14. Casanova, J.L., Severe infectious diseases of childhood as monogenic inborn errors of immunity. Proc Natl Acad Sci U S A 112 (2015), E7128–E7137.
15. Dupuis, S., Jouanguy, E., Al-Hajjar, S., Fieschi, C., Al-Mohsen, I.Z., Al-Jumaah, S., et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat Genet 33 (2003), 388–391.
16. Hambleton, S., Goodbourn, S., Young, D.F., Dickinson, P., Mohamad, S.M., Valappil, M., et al. STAT2 deficiency and susceptibility to viral illness in humans. Proc Natl Acad Sci U S A 110 (2013), 3053–3058.
17. Shahni, R., Cale, C.M., Anderson, G., Osellame, L.D., Hambleton, S., Jacques, T.S., et al. Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission. Brain 138 (2015), 2834–2846.