Inmunodeficiencias primarias

  1. de la Calle, V. González
  2. Pérez-Andrés, M.
  3. Puig Morón, N.
Journal:
Medicine: Programa de Formación Médica Continuada Acreditado

ISSN: 0304-5412

Year of publication: 2016

Issue Title: Enfermedades de la sangre (II) Enfermedades de los leucocitos

Series: 12

Issue: 21

Pages: 1191-1200

Type: Article

DOI: 10.1016/J.MED.2016.10.010 DIALNET GOOGLE SCHOLAR

More publications in: Medicine: Programa de Formación Médica Continuada Acreditado

Abstract

Abstract: Concept Primary immunodeficiencies (PID) are very heterogeneous hereditary diseases, caused mostly by defects in a gene that determine a quantitative and/or qualitative alteration of the immune system and consequently, increased risk of infections by germs encapsulated or opportunistic, autoimmune phenomena or allergy and an increased risk of malignancies. Classification The new classification of PIDs includes 9 groups, based on the phenotype of more than 200 entities. This review will focus on those that affect lymphocytes: antibodies deficiencies and combined immunodeficiencies. Diagnosis The diagnosis of PIDs should be guided by clinical suspicion, should be performed sequentially and should be based on three simple additional test: blood count, determination of immunoglobulins and study of lymphocyte populations. Finally, the genetic characterization confirms the diagnosis of PID, allows suitable and early treatment and perform genetic counseling.

Bibliographic References

  • Gathmann B, Binder N, Ehl S, Barcelona C, Luis J, Granada S, et al. The European internet-based patient and research database for primary immunodeficiencies : update 2011. Clin Exp Immunol. 2011;479-91.
  • Bousfiha AA, Jeddane L, Ailal F. Primary immunodeficiency diseases worldwide : more common than generally thought. J Clin Immunol. 2013;1-7.
  • Bousfiha A, Jeddane L, Al-herz W, Ailal F, Casanova JL, Chatila T, et al. The 2015 IUIS phenotypic classification for primary immu-nodeficiencies. J Clin Immunol. 2015;727-38.
  • Al-herz W, Bousfiha A, Casanova J, Chatila T, Conley ME, Cun-ningham-rundles C, et al. Primary immunodeficiency diseases : an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodefi-ciency. Proceedings of ICI. 2014;5:1-33.
  • Al-herz W, Bousfiha A, Casanova J, Chapel H, Conley ME, Cunningham-rundles C, et al. Primary immunodeficiency diseases : an update on the classification from the International Union of Im-munological Societies Expert Committee for Primary Immunodefi-ciency. Front Immunol. 2011;2:1-26.
  • García Insausti C, Fuster Soler JL, Gómez-Espuch J, Moraleda Jiménez JM. Enfermedades leucocitarias. Medicine. 2012;11(21):1259-67.
  • Vries E. Patient-centred screening for primary immunodeficien-cy, a multi-stage diagnostic protocol designed for non-immunolo-gists : 2011 update. Clin Exp Immunol. 2012;167(1):108-19.
  • García Martínez JM, Santos-Díez L, Dopazo L. Diagnóstico de las inmu-nodeficiencias primarias. Protoc Diagn Ter Pediatr. 2013;1:81-92.
  • Oliveira JB, Fleisher TA. Laboratory evaluation of primary immunodefi-ciencies. J Allergy Clin Immunol. 2010;125:S297-305.
  • Oliveira JB, Notarangelo LD, Fleisher TA. Applications of flow cytometry for the study of primary immune deficiencies. Curr Opin Allergy Clin Immunol. 2008;(8):499-509
  • Fleisher TA, Madkaikar M, Rosenzweig SD. Application of flow cytome-try in the evaluation of primary immunodeficiencies. Indian J Pediatr. 2016;83(5):444-9.
  • Germeshausen M, Zeidler C, Stuhrmann M, Lanciotti M, Ballmaier M, Welte K. Digenic mutations in severe congenital neutropenia. Haemato-logica. 2010;95(7):1207-10.
  • Nijman IJ, Van Montfrans JM, Hoogstraat M, Boes ML, Corput L Van De, Renner ED, et al. Targeted next-generation sequencing : A novel diagnostic tool for primary immunodeficiencies. J Allergy Clin Immunol. 2014;133:529-34.e1.
  • Fang M, Abolhassani H, Lim CK, Zhang J, Hammarström L. Next generation sequencing data analysis in primary immunodeficiency disorders – future directions. J Clin Immunol. J Clin Immunol. 2016;36Suppl1:68-75.
  • Ochs HD, Smith CI, Puck JM. Primary Inmmunodeficiency. A molecular and genetic approach. 3rd ed. New York: Oxford University Press; 2014. p. 356-366.
  • Locke BA, Dasu T, Verbsky JW. Laboratory diagnosis of primary immu-nodeficiencies. Clin Rev Allergy Immunol. 2014; 154-68.
Data source: Dialnet