Вопросы гематологии/онкологии и иммунопатологии в педиатрии. 2016; 15: 8-9
Первичные иммунодефициты -реалии XXI века
https://doi.org/10.24287/1726-1708-2016-15-1-8-9Список литературы
1. Schultz W. Über eigenartige Halserkrankungen (a) Monozytenangina, (b) gangrä-nisierende Prozesse und Defekte des Granulozytensystem. Dtsch Med Wochenschr. 1922;48:1495-7.
2. Syllaba L, Henner K. Contibution à l’indépendence de l’athetose double idiopathique et congénitale: atteinte familiale, syndrome dystrophique, signe du réseau vasculaire conjonctival, intégrité psychique. Rev Neurol (Paris). 1926;1:541-62.
3. Wiskott A. Familiärer, angeborener Morbus Werlhofii? Monatsschr Kinderheilkd. 1937;68:212-6.
4. Ochs HD, Hitzig WH. History of primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol. 2012;12(6):577-87.
5. Bruton OC, Apt L, Gitlin D, Janeway CA. Absence of serum gamma globulins. AMA Am J Dis Child. 1952;84(5):632-6.
6. Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968; 2(7583): 1366-9.
7. Orkin SH, Daddona PE, Shewach DS, Markham AF, Bruns GA, Goff SC, et al. Molecular cloning of human adenosine deaminase gene sequences. J Biol Chem. 1983; 258(21): 12753-6.
8. Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, et al. Cloning of the gamma chain of the human IL-2 receptor. Science. 1992; 257(5068): 379-82.
9. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993; 361(6409): 226-33.
10. Fischer A, Hacein-Bey Abina S, Touzot F, Cavazzana M. Gene therapy for primary immunodeficiencies. Clin Genet. 2015; 88(6): 507-15.
11. Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, et al. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015; 35(8): 727-38.
12. Boisson B, Quartier P, Casanova JL. Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind. Curr Opin Immunol. 2015; 32: 90-105.
13. Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, et al. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet. 2012; 21 (11): 2572-87.
14. Щербина АЮ, Пашанов ЕД, ред. Иммунология детского возраста. Практическое руководство по детским болезням. М.: Медпрактика-М, 2006. / Shcherbina AYu, Pashanov ED, red. Immunologiya detskogo vozrasta. Prakticheskoe rukovodstvo po detskim boleznyam. Moscow: “Medpraktika-M” Publ., 2006. (In Russian).
15. Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol. 2002; 20: 581-620.
16. Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science. 2006: 314(5797): 308-12.
17. Dosanjh A. Autoimmunity and immunodeficiency. Pediatr Rev. 2015; 36(11 ): 489-94.
18. Patel DD, Kuchroo VK. Th17 cell pathway in human immunity: lessons from genetics and therapeutic interventions. Immunity. 2015; 43(6): 1040-51.
19. Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009; 84(1): 16-22.
Pediatric Hematology/Oncology and Immunopathology. 2016; 15: 8-9
Primary immunodeficiencies: Realities of the 21st century
https://doi.org/10.24287/1726-1708-2016-15-1-8-9References
1. Schultz W. Über eigenartige Halserkrankungen (a) Monozytenangina, (b) gangrä-nisierende Prozesse und Defekte des Granulozytensystem. Dtsch Med Wochenschr. 1922;48:1495-7.
2. Syllaba L, Henner K. Contibution à l’indépendence de l’athetose double idiopathique et congénitale: atteinte familiale, syndrome dystrophique, signe du réseau vasculaire conjonctival, intégrité psychique. Rev Neurol (Paris). 1926;1:541-62.
3. Wiskott A. Familiärer, angeborener Morbus Werlhofii? Monatsschr Kinderheilkd. 1937;68:212-6.
4. Ochs HD, Hitzig WH. History of primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol. 2012;12(6):577-87.
5. Bruton OC, Apt L, Gitlin D, Janeway CA. Absence of serum gamma globulins. AMA Am J Dis Child. 1952;84(5):632-6.
6. Gatti RA, Meuwissen HJ, Allen HD, Hong R, Good RA. Immunological reconstitution of sex-linked lymphopenic immunological deficiency. Lancet. 1968; 2(7583): 1366-9.
7. Orkin SH, Daddona PE, Shewach DS, Markham AF, Bruns GA, Goff SC, et al. Molecular cloning of human adenosine deaminase gene sequences. J Biol Chem. 1983; 258(21): 12753-6.
8. Takeshita T, Asao H, Ohtani K, Ishii N, Kumaki S, Tanaka N, et al. Cloning of the gamma chain of the human IL-2 receptor. Science. 1992; 257(5068): 379-82.
9. Vetrie D, Vorechovsky I, Sideras P, Holland J, Davies A, Flinter F, et al. The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases. Nature. 1993; 361(6409): 226-33.
10. Fischer A, Hacein-Bey Abina S, Touzot F, Cavazzana M. Gene therapy for primary immunodeficiencies. Clin Genet. 2015; 88(6): 507-15.
11. Bousfiha A, Jeddane L, Al-Herz W, Ailal F, Casanova JL, Chatila T, et al. The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2015; 35(8): 727-38.
12. Boisson B, Quartier P, Casanova JL. Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind. Curr Opin Immunol. 2015; 32: 90-105.
13. Baradaran-Heravi A, Cho KS, Tolhuis B, Sanyal M, Morozova O, Morimoto M, et al. Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet. 2012; 21 (11): 2572-87.
14. Shcherbina AYu, Pashanov ED, red. Immunologiya detskogo vozrasta. Prakticheskoe rukovodstvo po detskim boleznyam. M.: Medpraktika-M, 2006. / Shcherbina AYu, Pashanov ED, red. Immunologiya detskogo vozrasta. Prakticheskoe rukovodstvo po detskim boleznyam. Moscow: “Medpraktika-M” Publ., 2006. (In Russian).
15. Casanova JL, Abel L. Genetic dissection of immunity to mycobacteria: the human model. Annu Rev Immunol. 2002; 20: 581-620.
16. Casrouge A, Zhang SY, Eidenschenk C, Jouanguy E, Puel A, Yang K, et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science. 2006: 314(5797): 308-12.
17. Dosanjh A. Autoimmunity and immunodeficiency. Pediatr Rev. 2015; 36(11 ): 489-94.
18. Patel DD, Kuchroo VK. Th17 cell pathway in human immunity: lessons from genetics and therapeutic interventions. Immunity. 2015; 43(6): 1040-51.
19. Joshi AY, Iyer VN, Hagan JB, St Sauver JL, Boyce TG. Incidence and temporal trends of primary immunodeficiency: a population-based cohort study. Mayo Clin Proc. 2009; 84(1): 16-22.
