A human immunodeficiency syndrome caused by mutations in CARMIL2

Nature Communications

Volumn 8, Issue , 2017, Pages

  Schober, T ^a   Magg, T ^a   Laschinger, M ^b   Rohlfs, M ^a   Linhares, N D ^c   Puchalka, J ^a   Weisser, T ^b   Fehlner, K ^b   Mautner, J ^b,d,e   Walz, C ^f   Hussein, K ^g   Jaeger, G ^f   Kammer, B ^a   Schmid, I ^a   Bahia, M ^c   Pena, S D ^c   Behrends, U ^b,d,e   Belohradsky, B H ^a   Klein, C ^a,e   Hauck, F ^a,e  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^d INSTITUTE OF EPIDEMIOLOGY   (Germany)

^e German Centre for Infection Research (DZIF)   (Germany)

^f UNIVERSITY OF MUNICH   (Germany)

^g HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CAPPING PROTEIN REGULATOR AND MYOSIN 1 LINKER 2; CD28 ANTIGEN; CYCLOPHOSPHAMIDE; METHOTREXATE; REGULATOR PROTEIN; UNCLASSIFIED DRUG; VINBLASTINE; ACTIN BINDING PROTEIN; LRRC16A PROTEIN, HUMAN;

ANTIGEN; GENE EXPRESSION; HUMAN IMMUNODEFICIENCY VIRUS; IMMUNE RESPONSE; MUSCLE; MUTATION; PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN; BRAZILIAN; CANCER CHEMOTHERAPY; CANCER LOCALIZATION; CANCER STAGING; CASE REPORT; CELL DIFFERENTIATION; CELLULAR IMMUNITY; CHICKENPOX; CHILD; CHRONIC DIARRHEA; COLONOSCOPY; DISEASE COURSE; ECZEMA; EPSTEIN BARR VIRUS INFECTION; FAILURE TO THRIVE; FATALITY; GENE MUTATION; GIARDIASIS; HISTOPATHOLOGY; HOMOZYGOTE; HUMAN; IMMUNE DEFICIENCY; IMMUNOPHENOTYPING; LIVER; LOSS OF FUNCTION MUTATION; MALE; MUSCLE TUMOR; PNEUMONIA; RECURRENT INFECTION; REGULATORY T LYMPHOCYTE; SKIN INFECTION; SOFT TISSUE TUMOR; SPLEEN; T LYMPHOCYTE ACTIVATION; UPPER RESPIRATORY TRACT INFECTION; VERRUCA VULGARIS; GENETICS; GENOTYPE; METABOLISM; MUTATION; PRESCHOOL CHILD; SIGNAL TRANSDUCTION;

HUMAN HERPESVIRUS 4;

CD28 ANTIGENS; CHILD; CHILD, PRESCHOOL; GENOTYPE; HOMOZYGOTE; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; MICROFILAMENT PROTEINS; MUTATION; SIGNAL TRANSDUCTION;

EID: 85010402424     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms14209     Document Type: Article

References (43)

1. Milner, J. D., Holland, S. M. The cup runneth over: lessons from the everexpanding pool of primary immunodeficiency diseases. Nat. Rev. Immunol. 13, 635-648 (2013).
2. Fischer, A. Recent advances in understanding the pathophysiology of primary T cell immunodeficiencies. Trends. Mol. Med. 21, 408-416 (2015).
3. Byun, M., et al. Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. J. Exp. Med. 210, 1743-1759 (2013).
4. Veillette, A., Perez-Quintero, L. A., Latour, S. X-linked lymphoproliferative syndromes and related autosomal recessive disorders. Curr. Opin. Allergy Clin. Immunol. 13, 614-622 (2013).
5. Wilson, E. H., Hunter, C. A. Understanding the role of the CD40-CD40L interaction in resistance to parasitic infections. Parasite Immunol. 25, 179-183 (2003).
6. Cesarman, E. Gammaherpesviruses and lymphoproliferative disorders. Annu. Rev. Pathol. 9, 349-372 (2014).
7. Parvaneh, N., Filipovich, A. H., Borkhardt, A. Primary immunodeficiencies predisposed to Epstein-Barr virus-driven haematological diseases. Br. J. Haematol. 162, 573-586 (2013).
8. Chen, L., Flies, D. B. Molecular mechanisms of T cell co-stimulation and coinhibition. Nat. Rev. Immunol. 13, 227-242 (2013).
9. Malissen, B., Bongrand, P. Early T cell activation: integrating biochemical, structural, and biophysical cues. Annu. Rev. Immunol. 33, 539-561 (2015).
10. Liang, Y., et al. The lymphoid lineage-specific actin-uncapping protein Rltpr is essential for costimulation via CD28 and the development of regulatory T cells. Nat. Immunol. 14, 858-866 (2013).
11. Matsuzaka, Y., et al. Identification, expression analysis and polymorphism of a novel RLTPR gene encoding a RGD motif, tropomodulin domain and proline/leucine-rich regions. Gene 343, 291-304 (2004).
12. Liang, Y., Niederstrasser, H., Edwards, M., Jackson, C. E., Cooper, J. A. Distinct roles for CARMIL isoforms in cell migration. Mol. Biol. Cell 20, 5290-5305 (2009).
13. Fujiwara, I., Remmert, K., Piszczek, G., Hammer, J. A. Capping protein regulatory cycle driven by CARMIL and V-1 may promote actin network assembly at protruding edges. Proc. Natl Acad. Sci. USA 111, E1970-E1979 (2014).
14. Alberti, L. R., et al. Multicentric infantile myofibromatosis of the small bowel detected by video capsule endoscopy in a child. Endoscopy 44 (Suppl 2): E258-E259 (2012).
15. Hussein, K., Rath, B., Ludewig, B., Kreipe, H., Jonigk, D. Clinico-pathological characteristics of different types of immunodeficiency-associated smooth muscle tumours. Eur. J. Cancer 50, 2417-2424 (2014).
16. Adzhubei, I. A., et al. A method and server for predicting damaging missense mutations. Nat. Methods 7, 248-249 (2010).
17. Kumar, P., Henikoff, S., Ng, P. C. Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat. Protoc. 4, 1073-1081 (2009).
18. Mallaret, M., et al. The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain 137, 411-419 (2014).
19. Ng, S. B., et al. Exome sequencing identifies the cause of a mendelian disorder. Nat. Genet. 42, 30-35 (2010).
20. Linhares, N. D., et al. Exome sequencing identifies a novel homozygous variant in NDRG4 in a family with infantile myofibromatosis. Eur. J. Med. Genet. 57, 643-648 (2014).
21. Taylor, G. S., Long, H. M., Brooks, J. M., Rickinson, A. B., Hislop, A. D. The immunology of Epstein-Barr virus-induced disease. Annu. Rev. Immunol. 33, 787-821 (2015).
22. Chaigne-Delalande, B., et al. Mg2\+ regulates cytotoxic functions of NK and CD8 T cells in chronic EBV infection through NKG2D. Science 341, 186-191 (2013).
23. Esensten, J. H., Helou, Y. A., Chopra, G., Weiss, A., Bluestone, J. A. CD28 costimulation: from mechanism to therapy. Immunity 44, 973-988 (2016).
24. Moulding, D. A., Record, J., Malinova, D., Thrasher, A. J. Actin cytoskeletal defects in immunodeficiency. Immunol. Rev. 256, 282-299 (2013).
25. Edwards, M., et al. Capping protein regulators fine-tune actin assembly dynamics. Nat. Rev. Mol. Cell Biol. 15, 677-689 (2014).
26. Etienne-Manneville, S. Microtubules in cell migration. Annu. Rev. Cell Dev. Biol. 29, 471-499 (2013).
27. Yokosuka, T., et al. Spatiotemporal regulation of T cell costimulation by TCR-CD28 microclusters and protein kinase C theta translocation. Immunity 29, 589-601 (2008).
28. Tai, X., Cowan, M., Feigenbaum, L., Singer, A. CD28 costimulation of developing thymocytes induces Foxp3 expression and regulatory T cell differentiation independently of interleukin 2. Nat. Immunol. 6, 152-162 (2005).
29. Lanier, M. H., Kim, T., Cooper, J. A. CARMIL2 is a novel molecular connection between vimentin and actin essential for cell migration and invadopodia formation. Mol. Biol. Cell 26, 4577-4588 (2015).
30. Henrickson, S. E., et al. T cell sensing of antigen dose governs interactive behavior with dendritic cells and sets a threshold for T cell activation. Nat. Immunol. 9, 282-291 (2008).
31. Takesono, A., Heasman, S. J., Wojciak-Stothard, B., Garg, R., Ridley, A. J. Microtubules regulate migratory polarity through Rho/ROCK signaling in T cells. PLoS ONE 5, e8774 (2010).
32. Nikolai, G., Niggemann, B., Werner, M., Zanker, K. S. Colcemid but not taxol modulates the migratory behavior of human T lymphocytes within 3-D collagen lattices. Immunobiology 201, 107-119 (1999).
33. Miettinen, M. Smooth muscle tumors of soft tissue and non-uterine viscera: biology and prognosis. Mod. Pathol. 27, S17-S29 (2014).
34. Janka, G. E., Lehmberg, K. Hemophagocytic syndromes-an update. Blood Rev. 28, 135-142 (2014).
35. Adhikary, D., et al. Immunodominance of lytic cycle antigens in Epstein-Barr virus-specific CD4\+ T cell preparations for therapy. PLoS ONE 2, e583 (2007).
36. Li, H., et al. The sequence alignment/map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
37. Albers, C. A., et al. Dindel: accurate indel calls from short-read data. Genome Res. 21, 961-973 (2011).
38. International HapMap Consortium., et al. A second generation human haplotype map of over 3.1 million SNPs. Nature 449, 851-861 (2007).
39. Genomes Project Consortium., et al. A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073 (2010).
40. Lek, M., et al. Analysis of protein-coding genetic variation in 60, 706 humans. Nature 536, 285-291 (2016).
41. Bryceson, Y. T., et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood 119, 2754-2763 (2012).
42. Hauck, F., et al. Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency. J. Allergy Clin. Immunol. 130, 1144-1152, e1111 (2012).
43. Jonigk, D., et al. Molecular and clinicopathological analysis of Epstein-Barr virus-associated posttransplant smooth muscle tumors. Am. J. Transplant. 12, 1908-1917 (2012).