Basics of primary immunodeficiencies
Revista Alergia México, número 2 de 2016
PDF (Spanish)
PubMed

Keywords

primary immunodeficiency
immunodeficiency diseases
recurrent infections
immunoglobulin therapy
prophylaxis

Abstract

Primary immunodeficiencies (PID) are a heterogeneous group of inherited disorders, the etiology are the defects in the development or function of the immune system. The principal PID manifestations are the infections in early age, malignancy and diseases of immune dysregulation as autoimmunity and allergy. PIDs are genetics disorders and most of them are inherited as autosomal recessive, also this group of diseases is more prevalent in males and in childhood. The antibody immunodeficiency is the PID more common in adults. The more frequent disorders are the infections in the respiratory tract, abscesses, candidiasis, diarrhea, BCGosis etc. Initial approach included a complete blood count and quantification of immunoglobulins. The delay in diagnosis could be explained due to a perception that the recurrent infections are normal process or think that they are exclusively of childhood. The early diagnosis of PID by primary care physicians is important to opportune treatment and better prognosis.
PDF (Spanish)
PubMed

References

Suárez F. Immune deficit. Rev Prat. 2010;60(4):551-558. 2. Conle ME, Notarangelo LD, Casanova JL. Definition of primary immunodeficiency in 2011: a “trialogue” among friends. Ann N Y Acad Sci. 2011;1238:1-6.

Chapel H, Prevot J, Gaspar HB, Español T, Bonilla FA, Solis L, et al. Primary immune deficiencies. Principles of care. Front Immunol. Front Immunol. 2014 Dec 15;5:627.

Group CTFPs. The French National Registry Of Primary Immunodeficiency Diseases. Clin Immunol. 2010;135(2):264-272.

Condino-Neto A. The relevance of collaborative work: the Latin American Society for Immunodeficiencies (LASID) registry model. Clin Exp Immunol. 2014;178 Suppl 1: 16-17.

Abel L, EL Baghdadi J, Bousfiha AA, Casanova JL, Schurr E. Human genetics of tuberculosis: a long and winding road. Philos Trans R Soc Lond B Biol Sci. 2014;369(1645):20130428.

Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. 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.

Routes J, Abinun M, Al-Herz W, Bustamante J, Condino- Neto A, De La Morena MT, et al. ICON: the early diagnosis of congenital immunodeficiencies. J Clin Immunol. 2014;34(4):398-424.

Bousfiha AA, Jeddane L, El Hafidi N, Benajiba N, Rada N, El Bakkouri J, et al. First report on the Moroccan registry of primary immunodeficiencies: 15 years of experience (1998-2012). J Clin Immunol. 2014;34(4):459-468.

Aghamohammadi A, Mohammadinejad P, Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. J Clin Immunol. 2014;34(4):478-490.

Marschall K, Hoernes M, Bitzenhofer-Grüber M, Jandus P, Duppenthaler A, Wuillemin WA, et al, The Swiss National Registry for Primary Immunodeficiencies: report on the first 6 years’ activity from 2008 to 2014. Clin Exp Immunol. 2015;182(1):45-50.

European Society for Immunodeficiencies [sitio web]. Welcome to the Registry Working Party! Disponible en http://esid.org/Working-Parties/Registry.

Wu UI, Holland SM. Host susceptibility to non-tuberculous mycobacterial infections. Lancet Infect Dis. 2015;15(8):968- 980.

Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, et al. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol. 2013;33(6):1078- 87.

Casanova JL. Human genetic basis of interindividual variability in the course of infection. Proc Natl Acad Sci U S A. 2015;112(51):E7118-E7127.

Lanternier F, Mahdaviani SA, Barbati E, Chaussade H, Koumar Y, Levy R, et al. Inherited CARD9 deficiency in otherwise healthy children and adults with Candida species-induced meningoencephalitis, colitis, or both. J Allergy Clin Immunol. 2015;135(6):1558-68e2.

Bezrodnik L, Di Giovanni D, Gómez Raccio A, Paz R, Regairaz L, et al. Guías de manejo: vacunas en pacientes con inmunodeficiencias primarias. Arch Argent Pediatr. 2010;108(5):454-464.

CEREDIH, Le Centre de Référence Déficits Immunitaires Héréditaires [sitio web]. Home. Disponible en http:// www.ceredih.fr/

Lugo Reyes SO, Ramirez-Vazquez G, Cruz Hernández A, Medina-Torres EA, Ramirez-Lopez AB, España-Cabrera C, et al. Clinical features, non-infectious manifestations and survival analysis of 161 children with primary immunodeficiency in Mexico: a single center experience over two decades. J Clin Immunol. 2016 Jan;36(1):56-65.

Picard C. [How to diagnose a hereditary immunodeficiency?]. Rev Prat. 2007;57(15):1671-166.

Aguilar C, Malphettes M, Donadieu J, Chandesris O, Coignard-Biehler H, Catherinot E, et al. Prevention of infections during primary immunodeficiency. Clin Infect Dis. 2014;59(10):1462-1470.

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.

Copyright (c) 2016 Revista Alergia México

Downloads

Download data is not yet available.