Abstract
RAG1/RAG2 mutations result in variable clinical manifestations, ranging from severe combined immunodeficiency (SCID) and Omenn Syndrome to milder forms
Combined immunodeficiency (CID) has to be excluded in patients with initial suspicion of common variable immunodeficiency (CVID), even in later stage of age and disease
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References
Notarangelo LD, Kim MS, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016;16(4):234–46.
Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB. Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. J Clin Immunol. 2015;35(8):696–726.
van der Burg M, Gennery AR. Educational paper. The expanding clinical and immunological spectrum of severe combined immunodeficiency. Eur J Pediatr. 2011;170(5):561–71.
Cirillo E, Giardino G, Gallo V, D’Assante R, Grasso F, Romano R, Di Lillo C, Galasso G, Pignata C. Severe combined immunodeficiency--an update. Ann N Y Acad Sci. 2015;1356:90–106.
de Villartay JP, Lim A, Al-Mousa H, Dupont S, Dechanet-Merville J, Coumau-Gatbois E, Gougeon ML, Lemainque A, Eidenschenk C, Jouanguy E, Abel L, Casanova JL, Fischer A, Le Deist F. A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. J Clin Invest. 2005;115(11):3291–9.
Ehl S, Schwarz K, Enders A, Duffner U, Pannicke U, Kuhr J, Mascart F, Schmitt-Graeff A, Niemeyer C, Fisch P. A variant of SCID with specific immune responses and predominance of gamma delta T cells. J Clin Invest. 2005;115(11):3140–8.
Schuetz C, Huck K, Gudowius S, Megahed M, Feyen O, Hubner B, Schneider DT, Manfras B, Pannicke U, Willemze R, Knuchel R, Gobel U, Schulz A, Borkhardt A, Friedrich W, Schwarz K, Niehues T. An immunodeficiency disease with RAG mutations and granulomas. N Engl J Med. 2008;358(19):2030–8.
Schwarz K, Gauss GH, Ludwig L, Pannicke U, Li Z, Lindner D, Friedrich W, Seger RA, Hansen-Hagge TE, Desiderio S, Lieber MR, Bartram CR. RAG mutations in human B cell-negative SCID. Science (New York, NY). 1996;274(5284):97–9.
Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Partial V(D)J recombination activity leads to Omenn syndrome. Cell. 1998;93(5):885–96.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Valiaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz KV. (D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood. 2001;97(1):81–8.
Wehr C, Gennery AR, Lindemans C, Schulz A, Hoenig M, Marks R, Recher M, Gruhn B, Holbro A, Heijnen I, Meyer D, Grigoleit G, Einsele H, Baumann U, Witte T, Sykora KW, Goldacker S, Regairaz L, Aksoylar S, Ardeniz O, Zecca M, Zdziarski P, Meyts I, Matthes-Martin S, Imai K, Kamae C, Fielding A, Seneviratne S, Mahlaoui N, Slatter MA, Gungor T, Arkwright PD, van Montfrans J, Sullivan KE, Grimbacher B, Cant A, Peter HH, Finke J, Gaspar HB, Warnatz K, Rizzi M, Inborn Errors Working Party of the European Society for B, Marrow T, the European Society for I. Multicenter experience in hematopoietic stem cell transplantation for serious complications of common variable immunodeficiency. J Allergy Clin Immunol. 2015;135(4):988–97 e6.
Cunningham-Rundles C. How I treat common variable immune deficiency. Blood. 2010;116(1):7–15.
Agarwal S, Cunningham-Rundles C. Autoimmunity in common variable immunodeficiency. Curr Allergy Asthma Rep. 2009;9(5):347–52.
Touzot F, Hacein-Bey-Abina S, Fischer A, Cavazzana M. Gene therapy for inherited immunodeficiency. Expert Opin Biol Ther. 2014;14(6):789–98.
John T, Walter JE, Schuetz C, Chen K, Abraham RS, Bonfim C, Boyce TG, Joshi AY, Kang E, Carvalho BT, Mahajerin A, Nugent D, Puthenveetil G, Soni A, Su H, Cowan MJ, Notarangelo L, Buchbinder D. Unrelated hematopoietic cell transplantation in a patient with combined immunodeficiency with granulomatous disease and autoimmunity secondary to RAG deficiency. J Clin Immunol. 2016;36(7):725–32.
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Kanariou, M., Tantou, S., Tzanoudaki, M., Lykopoulou, L. (2019). Alopecia, Hypothyroidism, Leukopenia and Hypogammaglobulinemia. In: Rezaei, N. (eds) Pediatric Immunology. Springer, Cham. https://doi.org/10.1007/978-3-030-21262-9_148
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