Skip to main content

New Findings in Primary Immunodeficiency

  • Chapter
  • First Online:
Book cover Hot Topics in Infection and Immunity in Children V

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 634))

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  • Abinun, M., Spickett, G., Appleton, A.L., Flood, T., and Cant, A.J. (1996). Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. Eur J Pediatr. 155:146–147.

    Article  PubMed  CAS  Google Scholar 

  • Ahnesorg, P., Smith, P., and Jackson, S.P. (2006). XLF interacts with the XRCC4-DNA ligase IV complex to promote DNA nonhomologous end-joining. Cell. 124:301–313.

    Article  PubMed  CAS  Google Scholar 

  • Aschenbrenner, K., D'Cruz, L.M., Vollmann, E.H., Hinterberger, M., Emmerich, J., Swee, L.K., Rolink, A., and Klein, L. (2007). Selection of Foxp3+ regulatory T cells specific for self antigen expressed and presented by Aire+ medullary thymic epithelial cells. Nat Immunol. 8:351–358.

    Article  PubMed  CAS  Google Scholar 

  • Bennett, C.L., Christie, J., Ramsdell, F., Brunkow, M.E., Ferguson, P.J., Whitesell, L., Kelly, T.E., Saulsbury, F.T., Chance, P.F., and Ochs, H.D. (2001). The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3. Nat Genet. 27:20–21.

    Article  PubMed  CAS  Google Scholar 

  • Bohn, G., Allroth, A., Brandes, .G., Thiel, J., Glocker, E., Schäffe, A.A., Rathinam, C., Taub, N., Tei, D., Zeidler, C., Dewey, R.A., Geffers, R., Buer, J., Huber, L.A., Welte, K., Grimbacher, B., and Klein, C. (2007). A novel human primary immunodeficiency syndrome caused by deficiency of the endosomal adaptor protein p14. Nat Med. 13:38–45.

    Article  PubMed  CAS  Google Scholar 

  • Buck, D., Moshous, D., de Chasseval, R., Ma, Y., le Deist, F., Cavazzana-Calvo, M., Fischer, A., Casanova, J.L., Lieber, M.R., and de Villartay, J.P. (2006a). Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV. Eur J Immunol. 36:224–235.

    Google Scholar 

  • Buck, D., Maliver, L., de Chasseval, R., Barraud, A., Fondanèche, M.C., Sanal, O., Plebani, A., Stéphan, J.L., Hufnagel, M., le Deist, F., Fischer, A., Durandy, A., de Villartay, J.P., and Revy, P. (2006b). Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly. Cell. 124:287–299.

    Google Scholar 

  • Casrouge, A., Zhang, S.Y., Eidenschenk, C., Jouanguy, E., Puel, A., Yang, K., Alcais, A., Picard, C., Mahfoufi, N., Nicolas, N., Lorenzo, L., Plancoulaine, S., Sénéchal, B., Geissmann, F., Tabeta, K., Hoebe, K., Du, X., Miller, R.L., Héron, B., Mignot, C., de Villemeur, T.B., Lebon, P., Dulac, O., Rozenberg, F., Beutler, B., Tardieu, M., Abel, L., and Casanova, J.L. (2006). Herpes simplex virus encephalitis in human UNC-93B deficiency. Science. 314:308–312.

    Article  PubMed  CAS  Google Scholar 

  • Castigli, E., Wilson, S.A., Garibyan, L., Rachid, R., Bonilla, F., Schneider, L., and Geha, R.S. (2005). TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet. 37:829–834.

    Article  PubMed  CAS  Google Scholar 

  • Caudy, A.A., Reddy, S.T., Chatila, T., Atkinson, J.P., and Verbsky, J.W. (2007). CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes. J Allergy Clin Immunol. 119:482–487.

    Article  PubMed  CAS  Google Scholar 

  • Cavazzana-Calvo M., and Fischer, A. (2007). Gene therapy for severe combined immunodeficiency: are we there yet? J Clin Invest. 117:1456–1465

    Article  PubMed  CAS  Google Scholar 

  • Coffey, A.J., Heath, P., Wray, P., Pavitt, R., Wilkinson, J., Leversha, M., Huckle, E., Shaw-Smith, C.J., Dunham, A., Rhodes, S., Schuster, V., Porta, G., Yin, L., Serafini, P., Sylla, B., Zollo, M., Franco, B., Bolino, A., Seri, M., Lanyi, A., Davis, J.R., Webster, D., Harris, A., Lenoir, G., de St Basile, G., Jones, A., Behloradsky, B.H., Achatz, H., Murken, J., Fassle,r R., Sumegi, J., Romeo, G., Vaudin, M., Ross, M.T., Meindl, A., and Bentley, D.R. (1998). Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 20:129–135.

    Article  PubMed  CAS  Google Scholar 

  • Courtois, G., Smahi, A., Reichenbach, J., Döffinger, R., Cancrini, C., Bonnet, M., Puel, A., Chable-Bessia, C., Yamaoka, S., Feinberg, J., Dupuis-Girod, S., Bodemer, C., Livadiotti, S., Novelli, F., Rossi, P., Fischer, A., Israël, A., Munnich, A., Le Deist, F., and Casanova, J.L. (2003). A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J Clin Invest. 112:1108–1115.

    PubMed  CAS  Google Scholar 

  • Dai, Y., Kysela, B., Hanakahi, L.A., Manolis, K., Riballo, E., Stumm, M., Harville, T.O., West, S.C., Oettinger, M.A., and Jeggo, P.A. (2003). Nonhomologous end joining and V(D)J recombination require an additional factor. Proc Natl Acad Sci U S A. 100:2462–2467.

    Article  PubMed  CAS  Google Scholar 

  • Dale, D.C., Person, R.E., Bolyard, A.A., Aprikyan, A.G., Bos, C., Bonilla, M.A., Boxer, L.A., Kannourakis, G., Zeidler, C., Welte, K., Benson, K.F., and Horwitz, M. (2000). Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood. ;96:2317–2322.

    PubMed  CAS  Google Scholar 

  • Devriendt, K., Kim, A.S., Mathijs, G., Frints, S.G., Schwartz, M., Van Den Oord, J.J., Verhoef, G.E., Boogaerts, M.A., Fryns, J.P., You, D., Rosen, M.K., and Vandenberghe, P. (2001). Constitutively activating mutation in WASP causes X-linked severe congenital neutropenia. Nat Genet. 27:313–317.

    Article  PubMed  CAS  Google Scholar 

  • Döffinger, R., Smahi, A., Bessia, C., Geissmann, F. Feinberg, J., Durandy, A., Bodemer, C., Kenwrick, S., Dupuis-Girod, S., Blanche, S., Wood, P., Rabia, S.H., Headon, D.J., Overbeek, P.A., Le Deist, F., Holland, S.M., Belani, K., Kumararatne, D.S., Fischer, A., Shapiro, R., Conley, M.E., Reimund, E., Kalhoff, H., Abinun, M., Munnich, A., Israël, A., Courtois, G., and Casanova, J.L. (2001). X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 27:277–285.

    Article  PubMed  Google Scholar 

  • Dupuis-Girod, S., Corradini, N., Hadj-Rabia, S., Fournet, J.C., Faivre, L., Le Deist, F., Durand, P., Döffinger, R., Smahi, A., Israel, A., Courtois, G., Brousse, N., Blanche, S., Munnich, A., Fischer, A., Casanova, J.L., Bodemer, C. (2002). Ostespetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incartinentia pigmenti in his mother. Pediatrics. Jun; 109(6):e97.

    Google Scholar 

  • Enders, A., Fisch, P., Schwarz, K., Duffner, U., Pannicke, U., Nikolopoulos, E., Peters, A., Orlowska-Volk, M., Schindler, D., Friedrich, W., Selle, B., Niemeyer, C., and Eh,l S. (2006). A severe form of human combined immunodeficiency due to mutations in DNA ligase IV. J Immunol. 176:5060–5068.

    PubMed  CAS  Google Scholar 

  • Feske, S., Gwack, Y., Prakriya, M., Srikanth, S., Puppel, S.H., Tanasa, B., Hogan, P.G., Lewis, R.S., Daly, M., and Rao, A. (2006). A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function. Nature. 441:179–185.

    Article  PubMed  CAS  Google Scholar 

  • Geha, R.S., Notarangelo, L.D., Casanova, J.L., Chapel, H., Conley, M.E., Fischer, A., Hammarström, L., Nonoyama, S., Ochs, H.D., Puck, J.M., Roifman, C., Seger, R., and Wedgwood, J.; International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. (2007). Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 120:776–794.

    Article  PubMed  Google Scholar 

  • Grimbacher, B., Hutloff, A., Schlesier, M., Glocker, E., Warnatz, K., Dräger, R., Eibel, H., Fischer, B., Schäffe, A.A., Mages, H.W., Kroczek, R.A., and Peter, H.H. (2003). Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiency. Nat Immunol. 4:261–268.

    Article  PubMed  CAS  Google Scholar 

  • Holland, S.M., DeLeo, F.R., Elloumi, H.Z., Hsu, A.P., Uzel, G., Brodsky, N., Freeman, A.F., Demidowich, A., Davis, J., Turner, M.L., Anderson, V.L., Darnell, D.N., Welch, P.A., Kuhns, D.B., Frucht, D.M., Malech, H.L., Gallin, J.I., Kobayashi, S.D., Whitney, A.R., Voyich, J.M., Musser, J.M., Woellner, C., Schäffer, A.A., Puck, J.M., and Grimbacher, B. (2007). STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 357:1608–1619.

    Article  PubMed  CAS  Google Scholar 

  • Janssen, R., van Wengen, A., Hoeve, M.A., ten Dam, M., van der Burg, M., van Dongen, J., van de Vosse, E., van Tol, M., Bredius, R., Ottenhoff, T.H., Weemaes, C., van Dissel, J.T., and Lankester, A. (2004). The same IkappaBalpha mutation in two related individuals leads to completely different clinical syndromes. J Exp Med. 200:559–568.

    Article  PubMed  CAS  Google Scholar 

  • Kanegane, H., Agematsu, K., Futatani, T., Sira, M.M., Suga, K., Sekiguchi, T., van Zelm, M.C., Miyawaki, T. (2007). Novel mutations in a Japanese patient with CD19 deficiency. Genes Immun. Dec; 8(8):663–670.

    Google Scholar 

  • Kaplan, J., De Domenico, I., and Ward, D.M. (2008). Chediak-Higashi syndrome. Curr Opin Hematol. 15:22–29.

    Article  PubMed  CAS  Google Scholar 

  • Kekäläinen, E., Tuovinen, H., Joensuu, J., Gylling, M., Franssila, R., Pöntynen, N., Talvensaari, K., Perheentupa, J., Miettinen, A., and Arstila, T.P. (2007). A defect of regulatory T cells in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Immunol. 178:1208–1215.

    PubMed  Google Scholar 

  • Klein,C., Grudzie, M., Appaswamy, G., Germeshausen, M., Sandrock, I., Schäffer, A.A., Rathinam, C., Boztug, K., Schwinzer, B., Rezaei, N., Bohn, G., Melin, M., Carlsson, G., Fadeel, B., Dahl, N., Palmblad, J., Henter, J.I., Zeidler, C., Grimbacher, B., and Welte, K. (2007). HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 39:86–92.

    Article  PubMed  CAS  Google Scholar 

  • Kostmann, R. (1956). Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr. 45(Suppl 105):1–78.

    CAS  Google Scholar 

  • Ku, C.L., von Bernuth, H., Picard, C., Zhang, S.Y., Chang, H.H., Yang, K., Chrabieh, M., Issekutz, A.C., Cunningham, C.K., Gallin, J., Holland, S.M., Roifman, C., Ehl, S., Smart, J., Tang, M., Barrat, F.J., Levy, O., McDonald, D., Day-Good, N.K., Miller, R., Takada, H., Hara, T., Al-Hajjar, S., Al-Ghonaium, A., Speert, D, Sanlaville, D., Li, X., Geissmann, F., Vivier, E., Maródi, L., Garty, B.Z., Chapel, H., Rodriguez-Gallego, C., Bossuyt, X., Abel, L., Puel, A., and Casanova, J.L. (2007). Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity. J Exp Med. 204: 2407–2422.

    Article  PubMed  CAS  Google Scholar 

  • Marrella, V., Poliani, P.L., Casati, A., Rucci, F., Frascoli, L., Gougeon, M.L., Lemercier, B., Bosticardo, M., Ravanini, M., Battaglia, M., Roncarolo, M.G., Cavazzana-Calvo, M., Facchetti, F., Notarangelo, L.D., Vezzoni, P., Grassi, F., and Villa, A. (2007). A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest. 117:1260–1269.

    Article  PubMed  CAS  Google Scholar 

  • Menasche, G., Feldmann, J., Houdusse, A., Desaymard, C., Fischer, A., Goud, B.,and de Saint Basile, G. (2003). Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients. Blood. 2003 101:2736–2742.

    Article  PubMed  CAS  Google Scholar 

  • Minegishi,Y., Saito, M., Morio, T., Watanabe, K., Agematsu, K., Tsuchiya, S., Takada, H., Hara, T., Kawamura, N., Ariga, T., Kaneko, H., Kondo, N., Tsuge, I., Yachie, A., Sakiyama, Y., Iwata, T., Bessho, F., Ohishi, T., Joh, K., Imai, K., Kogawa, K., Shinohara, M., Fujieda, M., Wakiguchi, H., Pasic, S., Abinun, M., Ochs, H.D., Renner, E.D., Jansson, A., Belohradsky, B.H., Metin, A., Shimizu, N., Mizutani, S., Miyawaki, T., Nonoyama, S., and Karasuyama, H. (2006). Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity. Immunity. 25:745–755.

    Article  PubMed  CAS  Google Scholar 

  • Minegishi, Y., Saito, M., Tsuchiya, S., Tsuge, I., Takada, H., Hara, T., Kawamura, N., Ariga, T., Pasic, S., Stojkovic, O., Metin, A., and Karasuyama, H. (2007). Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature. 448:1058–1062.

    Article  PubMed  CAS  Google Scholar 

  • Niehues, T., Reichenbach, J., Neubert, J., Gudowius, S., Puel, A., Horneff, G., Lainka, E., Dirksen, U., Schroten, H., Döffinger, R., Casanova, J.L., and Wahn, V. (2004). Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. J Allergy Clin Immunol. 114:1456–1462.

    Article  PubMed  Google Scholar 

  • O'Driscoll, M., Cerosaletti, K.M., Girard, P.M., Dai, Y., Stumm, M., Kysela, B., Hirsch, B., Gennery, A., Palmer, S.E., Seidel, J., Gatti, R.A., Varon, R., Oettinger, M.A., Neitzel, H., Jeggo, P.A., and Concannon, P. (2001). DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency. Mol Cell. 8:1175–1185.

    Article  PubMed  Google Scholar 

  • Orange, J.S., Levy, O., Brodeur, S.R., Krzewski, K., Roy, R.M., Niemela, J.E., Fleisher, T.A., Bonilla, F.A., and Geha, R.S. (2004). Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia. J Allergy Clin Immunol. 114:650–656.

    Article  PubMed  CAS  Google Scholar 

  • Perheentupa, J. (2006). Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy. J Clin Endocrinol Metab. 91:2843–2850.

    Article  PubMed  CAS  Google Scholar 

  • Riballo, E., Critchlow, S.E., Teo, S.H., Doherty, A.J., Priestley, A., Broughton, B., Kysela, B., Beamish, H., Plowman, N., Arlett, C.F., Lehmann, A.R., Jackson, S.P., and Jeggo, P.A. (1999). Identification of a defect in DNA ligase IV in a radiosensitive leukaemia patient. Curr Biol. 9:699–702.

    Article  PubMed  CAS  Google Scholar 

  • Rieux-Laucat, F., Hivroz, C., Lim, A., Mateo, V., Pellier, I., Selz, F., Fischer, A., and Le Deist, F. (2006). Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency. N Engl J Med. 354:1913–1921.

    Article  PubMed  CAS  Google Scholar 

  • Rigaud, S., Fondanèche, M.C., Lamber, N., Pasquier, B., Mateo, V., Soulas, P., Galicier, L., Le Deist, F., Rieux-Laucat, F., Revy, P., Fischer, A., de Saint Basile, G., and Latour, S. (2006). XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 444:110–114.

    Article  PubMed  CAS  Google Scholar 

  • Roberts. J.L., Lauritsen, J.P., Cooney, M., Parrott, R.E., Sajaroff, E.O., Win, C.M., Keller, M.D., Carpenter, J.H., Carabana, J., Krangel, M.S., Sarzotti, M., Zhong, X.P., Wiest, D.L., and Buckley, R.H0. (2007). T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. Blood. 109:3198–3206.

    Article  PubMed  CAS  Google Scholar 

  • Ryan, K.R., Lawson, C.A., Lorenzi, A.R., Arkwright, P.D., Isaacs, J.D., and Lilic, D. (2005). CD4+CD25+ T-regulatory cells are decreased in patients with autoimmune polyendocrinopathy candidiasis ectodermal dystrophy. J Allergy Clin Immunol. 116:1158–1159.

    Article  PubMed  CAS  Google Scholar 

  • Salzer, U., Maul-Pavicic, A., Cunningham-Rundles, C., Urschel, S., Belohradsky, B.H., Litzman, J., Holm, A., Franco, J.L., Pleban, A., Hammarstrom, L., Skrab, A., Schwinger, W., and Grimbacher, B. (2004). ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol. 113:234–240.

    Article  PubMed  CAS  Google Scholar 

  • Salzer, U., Chapel, H.M. Webster, A.D., Pan-Hammarström, Q., Schmitt-Graeff, A., Schlesier, M., Peter, H.H., Rockstroh, J.K., Schneider, P., Schäffer, A.A., Hammarström, L., and Grimbacher, B. (2005). Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet. 37:820–828.

    Article  PubMed  CAS  Google Scholar 

  • Sekine, H., Ferreira, R.C., Pan-Hammarström, Q., Graham, R.R., Ziemba, B., de Vries, S.S., Liu, J., Hippen, K., Koeuth, T., Ortmann, W., Iwahori, A., Elliott, M.K., Offer, S., Skon, C., Du, L., Novitzke, J., Lee, A.T., Zhao, N., Tompkins, J.D., Altshuler, D., Gregersen, P.K., Cunningham-Rundles, C., Harris, R.S., Her, C., Nelson, D.L., Hammarström, L., Gilkeson, G.S., and Behrens, T.W. (2007). Role for Msh5 in the regulation of Ig class switch recombination. Proc Natl Acad Sci U S A. 104:7193–7198.

    Article  PubMed  CAS  Google Scholar 

  • Sharfe, N., Dadi, H.K., Shahar, M., and Roifman, C.M. (1997). Human immune disorder arising from mutation of the alpha chain of the interleukin-2 receptor. Proc Natl Acad Sci U S A. 94:3168–3171.

    Article  PubMed  CAS  Google Scholar 

  • Sobacchi, C., Marrella, V., Rucci, F., Vezzoni, P., and Villa, A. (2006). RAG-dependent primary immunodeficiencies. Hum Mutat. 27:1174–1184.

    Article  PubMed  CAS  Google Scholar 

  • van der Burg, M., van Veelen, L.R., Verkaik, N.S., Wiegant, W.W., Hartwig, N.G., Barendregt, B.H., Brugmans, L., Raams, A., Jaspers, N.G., Zdzienicka, M.Z., van Dongen, J.J., and van Gent, D.C. (2006). A new type of radiosensitive T-B-NK+ severe combined immunodeficiency caused by a LIG4 mutation. J Clin Invest. 116:137–145.

    Article  PubMed  Google Scholar 

  • van Zelm, M.C., Reisli, I., van der Burg, M., Castaño, D., van Noesel, C.J., van Tol, M.J., Woellner, C., Grimbacher, B., Patiño, P.J., van Dongen, J.J., and Franco, J.L. (2006). An antibody-deficiency syndrome due to mutations in the CD19 gene. N Engl J Med. 354:1901–1912.

    Article  PubMed  Google Scholar 

  • Warnatz, K., Salzer,U., Gutenberger, S., Schlesier, M., Grimbacher,B., Peter, H.H., and Eibel, H. (2005). Finally Found: Human BAFF-R Deficiency Causes Hypogammaglobulinemia. Clin Immunol. 115 (Suppl 1): S20

    Google Scholar 

  • Warnatz, K., Bossaller, L., Salze,r U., Skrabl-Baumgartner, A., Schwinger, W., van der Burg, M., van Donge, J.J., Orlowska-Volk, M., Knoth, R., Durandy, A., Draeger, R, Schlesier, M., Peter, H.H., and Grimbacher, B. (2006). Human ICOS deficiency abroga.tes the germinal center reaction and provides a monogenic model for common variable immunodeficiency. Blood. 107:3045–3052.

    Article  PubMed  CAS  Google Scholar 

  • Wei, M.L. (2006). Hermansky-Pudlak syndrome: a disease of protein trafficking and organelle function. Pigment Cell Res. 19:19–42.

    Article  PubMed  CAS  Google Scholar 

  • Zhang, S.Y., Jouanguy, E., Ugolini, S., Smahi, A., Elain, G., Romero, P., Segal, D., Sancho-Shimizu, V., Lorenzo, L., Puel, A., Picard, C., Chapgier, A., Plancoulaine, S., Titeux, M., Cognet, C., von Bernuth, H., Ku, C.L., Casrouge, A., Zhang, X.X., Barreiro, L., Leonard, J., Hamilton, C., Lebon, P., Héron, B., Vallée, L., Quintana-Murci, L., Hovnanian, A., Rozenberg, F., Vivier, E., Geissmann, F., Tardieu, M., Abel, L., and Casanova, J.L. (2007). TLR3 deficiency in patients with herpes simplex encephalitis. Science.317:1522–1527.

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Andrew R. Gennery .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2009 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Gennery, A.R., Cant, A.J. (2009). New Findings in Primary Immunodeficiency. In: Finn, A., Curtis, N., Pollard, A. (eds) Hot Topics in Infection and Immunity in Children V. Advances in Experimental Medicine and Biology, vol 634. Springer, New York, NY. https://doi.org/10.1007/978-0-387-79838-7_8

Download citation

Publish with us

Policies and ethics