Publication Cover
Immunological Investigations
A Journal of Molecular and Cellular Immunology
Volume 47, 2018 - Issue 7
155
Views
3
CrossRef citations to date
0
Altmetric
Original Articles

Genetic Analysis of Patients with Two Different Types of Hyper IgM Syndrome

, , , , , & show all

References

  • Abolhassani H, Akbari F, Mirminachi B, et al. (2014). Morbidity and mortality of Iranian patients with hyper IgM syndrome: a clinical analysis. Iran J Immunol, 11(2), 123–133. IJIv11i2A7.
  • Adzhubei IA, Schmidt S, Peshkin L, et al. (2010). A method and server for predicting damaging missense mutations. Nat Methods, 7(4), 248–249. doi:10.1038/nmeth0410-248.
  • Aghamohammadi A, Parvaneh N, Rezaei N, et al. (2009). Clinical and laboratory findings in hyper-IgM syndrome with novel CD40L and AICDA mutations. J Clin Immunol, 29(6), 769–776. doi:10.1007/s10875-009-9315-7.
  • Barnhart B, Ford GS, Bhushan A, et al. (2000). A polymorphic CD40 ligand (CD154) molecule mediates CD40-dependent signalling but interferes with the ability of soluble CD40 to functionally block CD154: CD40interactions. Immunology, 99(1), 54–61.
  • Borte S, Von Dobeln U, Fasth A, et al. (2012). Neonatal screening for severe primary immunodeficiency diseases using high-throughput triplex real-time PCR. Blood, 119(11), 2552–2555. doi:10.1182/blood-2011-08-371021.
  • Bousfiha A, Jeddane L, Picard C, et al. (2018). The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol, 38(1), 129–143. doi:10.1007/s10875-017-0465-8.
  • Cabral-Marques O, Klaver S, Schimke LF, et al. (2014). First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. J Clin Immunol, 34(2), 146–156. doi:10.1007/s10875-013-9980-4.
  • Cabral-Marques O, Ramos RN, Schimke LF, et al. (2017). Human CD40 ligand deficiency dysregulates the macrophage transcriptome causing functional defects that are improved by exogenous IFN-gamma. J Allergy Clin Immunol, 139(3), 900–912.e7. doi:10.1016/j.jaci.2016.07.018.
  • Cabral-Marques O, Takahashi Franca T, Al-Sbiei A, et al. (2018). CD40 ligand deficiency causes functional defects of peripheral neutrophils that are improved by exogenous IFN-gamma. J Allergy Clin Immunol, doi:10.1016/j.jaci.2018.02.026.
  • Davies EG, Thrasher AJ. (2010). Update on the hyper immunoglobulin M syndromes. Br J Haematol, 149(2), 167–180. doi:10.1111/j.1365-2141.2010.08077.x.
  • De La Morena MT, Leonard D, Torgerson TR, et al. (2017). Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immunol, 139(4), 1282–1292. doi:10.1016/j.jaci.2016.07.039.
  • Katta A, Hong J, Knutsen AP. (2013). Hyper immunoglobulin M syndrome in a 15-year-old boy caused by a Gly219Arg missense mutation. Ann Allergy Asthma Immunol, 110(5), 391–393. doi:10.1016/j.anai.2013.02.011.
  • Levy J, Espanol-Boren T, Thomas C, et al. (1997). Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr, 131(1 Pt 1), 47–54.
  • Lin Q, Rohrer J, Allen RC, et al. (1996). A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome. J Clin Invest, 97(1), 196–201. doi:10.1172/JCI118389.
  • Macchi P, Villa A, Strina D, et al. (1995). Characterization of nine novel mutations in the CD40 ligand gene in patients with X-linked hyper IgM syndrome of various ancestry. Am J Hum Genet, 56(4), 898–906.
  • Mitsui-Sekinaka K, Imai K, Sato H, et al. (2015). Clinical features and hematopoietic stem cell transplantations for CD40 ligand deficiency in Japan. J Allergy Clin Immunol, 136(4), 1018–1024. doi:10.1016/j.jaci.2015.02.020.
  • Ng PC, Henikoff S. (2001). Predicting deleterious amino acid substitutions. Genome Res, 11(5), 863–874. doi:10.1101/gr.176601.
  • Notarangelo LD. (2010). Primary immunodeficiencies. J Allergy Clin Immunol, 125(2 Suppl 2), S182–94. doi:10.1016/j.jaci.2009.07.053.
  • Notarangelo LD, Duse M, Ugazio AG. (1992). Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev, 3(2), 101–121.
  • Picard C, Al-Herz W, Bousfiha A, et al. (2015). Primary Immunodeficiency Diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol, 35(8), 696–726. doi:10.1007/s10875-015-0201-1.
  • Puck JM. (2012). Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles. J Allergy Clin Immunol, 129(3), 607–616. doi:10.1016/j.jaci.2012.01.032.
  • Qamar N, Fuleihan RL. (2014). The hyper IgM syndromes. Clin Rev Allergy Immunol, 46(2), 120–130. doi:10.1007/s12016-013-8378-7.
  • Revy P, Muto T, Levy Y, et al. (2000). Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell, 102(5), 565–575.
  • Rezaei N, Aghamohammadi A, Ramyar A, et al. (2008). Severe congenital neutropenia or hyper-IgM syndrome? A novel mutation of CD40 ligand in a patient with severe neutropenia. Int Arch Allergy Immunol, 147(3), 255–259. doi:10.1159/000142050.
  • Rigaud S, Lopez-Granados E, Siberil S, et al. (2011). Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG. Blood, 118(2), 252–261. doi:10.1182/blood-2011-01-328849.
  • Roifman CM, Somech R, Kavadas F, et al. (2012). Defining combined immunodeficiency. J Allergy Clin Immunol, 130(1), 177–183. doi:10.1016/j.jaci.2012.04.029.
  • Seyama K, Nonoyama S, Gangsaas I, et al. (1998). Mutations of the CD40 ligand gene and its effect on CD40 ligand expression in patients with X-linked hyper IgM syndrome. Blood, 92(7), 2421–2434.
  • Sottini A, Ghidini C, Zanotti C, et al. (2010). Simultaneous quantification of recent thymic T-cell and bone marrow B-cell emigrants in patients with primary immunodeficiency undergone to stem cell transplantation. Clin Immunol, 136(2), 217–227. doi:10.1016/j.clim.2010.04.005.
  • Sullivan KE, Stiehm R, Notarangelo LD, et al. (2014). Stiem’s Immune Deficiencies. Vol. 1. Elsevier.
  • Thusberg J, Vihinen M. (2007). The structural basis of hyper IgM deficiency - CD40L mutations. Protein Eng Des Sel, 20(3), 133–141. doi:10.1093/protein/gzm004.
  • Wang LL, Zhou W, Zhao W, et al. (2014). Clinical features and genetic analysis of 20 Chinese patients with X-linked hyper-IgM syndrome. J Immunol Res, 2014, 683160. doi:10.1155/2014/683160.
  • Winkelstein JA, Marino MC, Ochs H, et al. (2003). The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients. Medicine (Baltimore), 82(6), 373–384. doi:10.1097/01.md.0000100046.06009.b0.
  • Ye P, Kirschner DE. (2002). Measuring emigration of human thymocytes by T-cell receptor excision circles. Crit Rev Immunol, 22(5–6), 483–497.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.