Butte MJ, Haines C, Bonilla FA, Puck JM. IL-7 receptor deficient SCID with a unique intronic mutation and post-transplant autoimmunity. Clin Immunol 125:159-164, 2007.
Puck JM, on behalf of The SCID Newborn Screening Working Group. Population-based newborn screening for severe combined immunodeficiency: steps toward implementation. J Allergy Clin Immunol 120:760-768, 2007.
Case discussion: Karpman, D., Bloom A. M., Goodship, T and Sullivan K.E. (2006) Anguish over angiopathy:hemolytic syndrome., Clinical Immunology, 122, 135-8.
Nilsson S.C., Kaprman D., Vaziri-Sani F., Kristofferson A., Salomon R., Provot F., Fremeaux-Bacchi, Trouw L.A., and Bloom A.M. (2007) A mutation in factor I that is associated with atypical hemolytic uremic syndrome does not affect factor I function in complement regulation., Molecular Immunology, 44, 1845-54.
Sjoberg A. P., Trouw L., Clark S.J., Sjolander, J., Heinegard D., Sim R. B., Day A. J., and Blom A.M. (2007) Factor H variant associated with age-related macular degeneration (H384) and non-disease-associated form bind differently to C-reactive protein, fibromodulin, DNA and necrotic cells., J Biol. Chem., 282, 10894-10900.
Trouw L.A., Bengtsson A., Geldeman K., Dahlback B, Sturfelt G. and Blom A.M. (2007) C4b-binding protein and factor H compensate for the loss of membrane bound complement regulators to protect apoptotic cells against complement attack., J. Biol. Chem., 282, 28540-8.
Blom A.M., Bergstrom F., Edey M., Diaz-Torres M., Kavanagh, D., Lampe A., Goodship J.A., Strain L., Moghal N., McHugh M., Inward C., Tomson C., Goodship T.H.J. (2008) A novel non-synonymous polymorphism (p.Arg240His) in C4b-binding protein is associated with atypical hemolytic uremic syndrome and leads to impaired alternative pathway cofactor activity., J. Immunol., in press.
Trouw L. A., Nielsen H.M., Minthon L., Landos E., Veerhuis, R., Landberg, G., Janciauskiene S. and Blom A. M. (2007) C4b- binding protein is present in cerebrospinal fluid can bind to a? peptide, DNA and apoptotic cells in the context of Alzeheimer’s disease and related dementias., Molecular Immunology, in press.
Nilsson S.C., Trouw L.A., Renault N., Miteva M., Genel F., Zelazko M., Muller K., Marquart H., Sjoholm A.G, Truedsson L., Villoutreix B.O. and Bloom A.M. (2008) Genetic, molecular and functional analysis of complement factor I deficiency, invited to resubmit by J. Immunol.
Bienaime F., Regnier C.H., Nilsson S., Blouin J., Renault N., Dragon-Durey M., Rameix-Welti M., Miteva M.A., Albano L., Barrou B., Boudailliez B., Fakhouri F., Provot F., Sautes-Fridman C., Villoutreix B.O., Bloom A.M. and Fremeaux-Bacchi V. (2007) Impact of complement Factor I mutations associated with atypical HUS on protein function and clinical outcome., submitted.
Zadura A.F., Theander E., Bloom A.M., Trouw L.A. (2008) C4b-binding protein in primary Sjogren’s syndrome and its association with other disease markers. A potential new biomarker for high risk disease course., submitted.
Nilsson S.C., Trouw L.A. Villoutreix B.O. and Bloom A.M. (2008) Molecular and functional analysis of complement factor I mutations in atypical hemolytic uremic syndrome patients., manuscript in preparation (to be submitted within 3 months).
Chemnitz JM, Parry RV, Nichols KE, June CH, Riley JL. SHP-1 and SHP-2 associated with immunoreceptor tyrosine-based switch motif of programmed death 1 upon primary human T cell stimulation, but only receptor ligation prevents T cell activation. Journal of Immunology, 2004; 173(2):445-454.
Mikhalap SV, Shlapatska LM, Yurchenko MY, Berdova GG, Nichols KE, Kurosaki T, Clark EA, Sidorenko SP. The adaptor protein SH2D1A regulates signaling through CD150(SLAM) in B cells. Blood, 2004;104(13):4063-4070.
Cannons JL, Hill B, Yu LJ, Mijares L, Nichols KE, Antonellis A, Koretzky G, Gardner K, Schwartzberg PL. SAP modulates TH2 differentiation and PKC-theta-mediated activation of the NFkB pathway. Immunity, 2004; 21(5):693-706.
Milone M, Tsai DE, Hodinka R, Silverman LB, Stadtmauer EA, Malbran A, Wasik M, Nichols KE. Use of B-cell directed therapy to treat primary Epstein-Barr virus (EBV) infection in patients with X-Linked Lymphoproliferative disease (XLP). Blood, 2005; 105(3):994-996.
Nichols KE, Hom J, Gong S-Y, Ganguly A, Ma C, Cannons J, Tangye SG, Schwartzberg PL, Koretzky GA, Stein PL. Regulation of NKT cell development by SAP, the protein defective in X-linked lymphoproliferative disease. Nature Medicine, 2005; 11(3):340-345; Feb. 13 [Epub ahead of print].
Ma CS, Hare NJ, Nichols KE, Dupre L, Andolfi G, Roncarolo MG, Adelstein S, Hodgkin PD, Tangye SG. Impaired humoral immunity in XLP is associated with defective IL-10 production by CD4+ T cells. Journal of Clinical Investigation, 2005; 115(4):1049-1059; Mar 3 [Epub ahead of print].
Nichols KE, Houseknect M, Godmilow L, Bunin G, Shields C, Meadows A, Ganguly A. Sensitive multi-step clinical molecular screening of 180 unrelated individuals with retinoblastoma detects 36 novel mutations in the RB1 gene. Human Mutation, 2005; 25(6):566-574.
Ma CS, Avery DT, Hare NJ, Klion A, Maric I, Nichols KE, and Tangye SG. Somatic hypermutation of CD27+ memory B cells in the absence of germinal centers in X-linked lymphoproliferative disease (XLP). Submitted.
Friedman DL, Nichols KE, Bunin GR, Potts JD, Meadows AT, Diller L. Germline mutations in TP53 are not commonly associated with second cancers following childhood cancer. Submitted.
Cuss AC, Avery DT, Cannons JL, Yu LJ, Schwartzberg PL, Nichols KE, Tangye SG. Expansion of functionally immature transitional B cells isassociated with human immunodeficient states due to impaired humoral immunity. Submitted.
Hare NJ, Ma CS, Alvaro F, Nichols KE, Tangye SG. Missense mutations in SH2D1A identified in patients with X-linked lymphoporliferative disease differentially affect the expression and function of SAP. Submitted.
Nichols KE, Perry VH, Arceci R, Pritchard J, Jaffe R, Egeler RM, Leenen PJM. 2004. Summary of the 13th Nikolas Symposium. The Macrophage and Dendritic Cell Newsletter 2:3-6. In: Modern Aspects of Immunobiology 3(2).
Nichols KE, Ma CS, Cannons JL, Schwartzberg PL, Tangye SG. Molecular and cellular pathogenesis of X linked lymphoproliferative disease (XLP), Immunolgical Reviews, 2005; 203:180-199.
Goldsmith K, Hogarty M, Nichols KE. The Childhood Histiocytoses: Langerhans Cell Histiocytosis and Hemophagocytic lymphohistiocytosis. Requisites in Pediatrics, 2005, in press.
Nichols KE, Leahey A, Meadows AT. Retinoblastoma. Requisites in Pediatrics, 2005, in press.
CH Miao, et al (2004) “Lentiviral transduction of Wiskoptt-Aldrich Syndrome (WAS) deficient, B and T-cells lead to long-term WAS protein expression and functional reconstitution”, Abstract presented at the 7th Annual Meeting of the American Society of Gene Therapy. Mol. Ther, 9, S345. The manuscript is currently in preparation.
S Humblet-Baron, et al. (2005) “Lentiviral vector-mediated gene therapy as treatment for Wiskott-Aldrich Syndrome (WAS): Pre-clinical studies in human cell lines and WASp -/- mice” Abstract presented at the 8th Annual Meeting of the American Society of Gene Therapy. Mol. Ther. 11, S133.
Stephanie Humblet-Baron, et al (2007) “Wiskott-Aldrich Syndrome protein is required for regulatory T cell homeostasis”, Clin Invest. 117, 407-18.
Borghesi L & C Milacerek (2007) Innate versus adaptive immunity: A paradigm past its prime? Cancer Res. 67:3989-3993
Pibeam K, N Vujanovic & L Borghesi (2007) Ontogeny of natural killer cells in man and mouse. In: Everything you wanted to know about NK cells but were afraid to ask. Editor, Laurent Brossay, p. 1-26
Fuleihan, RL, P-X Zhang, D Krause, and RA Flavell. Correction of CD40 ligand function by transplantation of limiting ratios of normal to CD40L-deficient bone marrow cells, In Preperation.
Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev. 2006 5:156-9.
Cunningham-Rundles C, Radigan L, Knight AK, Zhang L, Bauer L,Nakazawa A. TLR9 activation is defective in common variable immune deficiency. J Immunol. 2006 1;176:1978-87
Cunningham-Rundles C, Ponda PP. Molecular defects in T- and B-cell primary immunodeficiency diseases. Nat Rev Immunol. 2005;5:880-92.
Sullivan K, Chapel H, Orange J, Cunningham-Rundles C. Priamry immunodeficiency diseases consortium conference. Clin Immunol. 2005;116:279-80.
Zeeberg BR, Qin H, Narasimhan S, Sunshine M, Cao H, Kane DW, Reimers M, Stephens RM, Bryant D, Burt SK, Elnekave E, Hari DM, Wynn TA, Cunningham-Rundles C, Stewart DM, Nelson D, Weinstein JN,. High Throughput GoMiner, an “industrial-strength” integrative gene otology tool for interpretation of multiple-microarray experiments, with application to studies of Common Variable Immune Deficiency (CVID). J Autoimmun. 2005;25:57-62.
Wang J, Cunningham-Rundles C. Treatment and outcome of autoimmune hematologic disease in common variable immunodeficiency (CVID). J Autoimmun. 2005;25:57-62
Ko J, Radigan L, Cunningham-Rundles C. immune competence and switched memory B cells in common variable immunodeficiency. Clin Immunol. 2005;116:37-41.
Cunningham-Rundles C, Routes JM, Hostoffer R, Sullivan KE, Uncommon conundrum in common variable immunodeficiency. Clin Immunol. 2005;116:208-10.
Cunningham-Rundles C, Radigan L. Deficient IL-12 and dendritic cell function in common variable immune deficiency. Clin Immunol. 2005;115:147-53.
Salzer U, Maul-Pavicic A, Cunningham-Rundles C, Urschel S, Beloharadsky BH, Litzman J, Holm A, Franco JL, Plebani A, Hammarstrom L, Skrabl A, Schwinger W, Grimbacher B. ICOS deficiency in patients with common variable immunodeficiency. Clin Immunol. 2004;113:234-40.
Ng YS, Wardemann H, Chelnis J, Cunningham-Rundles C, Meffre E. Bruton’s tyrosine kinase is essential for human B cell tolerance. J Exp Med 2004;200,937-34.
Adina Kay Knight, MD, Davide Serrano, Li Zhang, Yaron Tomer, MD and Charlotte Cunningham-Rundles, CTLA-4 Gene Exon-1 +49 A/G Polymorphism and TACI mutation: Lack of Association with Autoimmune Disease in Patients with Common Variable Immune Deficiency, in preparation.
Suresh Koduru, Michael Massaad, Lalit Kumar, Raif Geha and Narayanaswamy Ramesh, A novel anti –WIP monoclonal antibody detect a new isoform of WIP, (2006) Manuscript in preparation.
Miguel A. de la Fuente, Yoji Sasahara, Marco Calamito, Maria D. Gallego, Abdala El-Khal, Ines M. Anton, Koduru Suresh, Katherine Siminovitch, Hans D. Ochs, Kenneth C. Anderson, Fred S. Rosen, Raif S. Geha and Narayanaswamy Ramesh. WIP is a chaperone for WASP. (2006) Revised manuscript submitted to PNAS.
Oda A., H.D. Ochs, L.A. Lasky, S. Spencer, K. Ozaki, M. Fujihara, M. Handa, K. Ikebuchi, and H Ikeda. 2001. CrkL is an adapter for Wiskott-Aldrich Syndrome protein and Syk. Blood 97:2633-2639
Castigli, E., S Wilson, L. Garibyan, R. Rachid, F. Bonilla, L. Schneider and R. Geha. 2005. TACI is mutant in common variable immunodeficiency and IgA deficiency. Nat Genet 37:829-834.
Castigli, E., S WilsonS. Scott, F. Dedeoglu, S. Xu, K.P. Lam, R. J. Ram, H. Jabara, And R.S. Geha. 2005. TACI and BAFF-R mediate isotype switching in B cells. J Exp Med 201:35-39.
Litinskiy, M.B., b. Nardelli, D.M. Hilbert, B. He, A. Schaffer, P. Casali, and A Cerutti. 2002. Dcs induce CD40-independent immunoglobulin class switching through BLyS and APRIL. Nat Immunol 3:822-829.
Salzer, U., H.M. Chapel, A.D. Webster, Q. Pan-Hammarstrom, A. Schmitt-Graeff, M. Schlesier, H.H. Peter, J.k. Rockstroh, P. Schneider, A.A> Schaffer, L. Hammarstrom, and B. Grimbacher. 2005. Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans. Nat Genet 37:820-828.
Castigli E, Wilson SA, Elkhal A, Ozcan E, Garibyan L, Geha RS. 2007. Transmembrane activator and calcium modulator and cyclophilin ligand interactor enhances CD40-driven plasma cell differentiation. J Allergy Clin Immunol. 120:885-891.
Salzer U, Neumann C, Thiel J, Woellner C, Pan-Hammarstrom Q, Lougaris V, Hagena T, Jung J, Birmelin J, Du L, Metin A, Webster DA, Plebani A, Moschese V, Hammarstrom L, Schaffer AA, Grimbacher B. Screening of functional and positional candidate genes in families with common variable immunodeficiency. BMC Immunol. 2008 Feb 7:9:3. PMID:18254984[PubMed – indexed for MEDLINE]
Nixon, JC, J Rajaiya and CF Webb. 2004. Mutations in the DNA-binding domain of the transcription factor Bridght act as dominant negative proteins and interfere with immunoglobulin transactivation. J. Biol. Chem 279:52465-52472.
Rajaiya, J, M Hatfield, JC Nixon, DJ Rawlings and CF Webb. 2005. Bruton’s tyrosine kinase regulates immunoglobulin promoter activation in association with the transcription factor Bright. Mol. Cell. Biol. 25:2073-2084.
Rajaiyam J., N. Ayers, Z.P. Desgranges, A.L. Roy, and C.F. Webb: Introduction of immunoglobulin heavy chain transcription through the transcription factor Bright requires TFII-I. Submitted, Mol. Cell. Biol.
Dai Y.S., Liang M.G., Gellis S. E., Bonilla F.A., Schneider L.C., Geha R.S., and Orange J.S., Characteristics of mycobacterial infection in patients with immunodeficiency and NF-B essential modulator mutation, with or without ectodermal dysplasia. 2004 J. Am. Acad. Dermatol. 51:718-722.
Jain, A. Ma, C.A., Lopex-Granados, E., Means, G., Brady, W., Orange, J.S., Liu, S. Holland, S.,Derry, J.M.J. Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation. 2004 J. Clin. Invest. 114:1593-1602.
Deeting, R.P., Orange, J.S. Development of a clinical assay to evaluate toll-like receptor function. 2005 In press
Orange, J.S. Congenital immunodeficiencies and sepsis. Pediatr. Crit. Care. Med. 2005, 6:S99-107
Orange, J.S., Levy, O. and Geha R.S. Human disease resulting from mutation that interfere with NF-B activation, 2005, Imm. Rev. 203:21-37.