Inborn errors of immunity: What should the otolaryngologist know, and when to suspect them?
Article Sidebar
Main Article Content
Abstract
Introduction: Inborn errors of immunity, previously known as primary immuno[1]deficiencies, are a heterogeneous group of pathologies whose clinical presentation includes recurrent, persistent and/or refractory infections to treatment in otorhino laryngology. Materials and methods: Narrative review of the literature was carried out from the search for articles in PUBMED and EMBASE. Discussion and conclusions: Patients with suspected inborn error of immunity require an early diagnosis to reduce long-term complications; the initial assessment and approach play a funda[1]mental role in the recognition of these diseases
Downloads
Article Details
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
Este artículo es publicado por la Revista Acta de Otorrinolaringología & Cirugía de Cabeza y Cuello.
Este es un artículo de acceso abierto, distribuido bajo los términos de la LicenciaCreativeCommons Atribución-CompartirIgual 4.0 Internacional.( http://creativecommons.org/licenses/by-sa/4.0/), que permite el uso no comercial, distribución y reproducción en cualquier medio, siempre que la obra original sea debidamente citada.
eISSN: 2539-0856
ISSN: 0120-8411
References
Barreto ICDP, Barreto BAP, Cavalcante EGDN, Condino Neto A. Immunological deficiencies: more frequent than they seemto be. J Pediatr (Rio J). 2021;97(1):S49-S58. doi: 10.1016/j.jped.2020.10.009
Aghamohammadi A, Moazzami K, Rezaei N, Karimi A, Movahedi M, Gharagozlou M, et al. ENT manifestations in
Iranian patients with primary antibody deficiencies. J Laryngol Otol. 2008;122(4):409-13. doi: 10.1017/S0022215107008626
Sikora AG, Lee KC. Otolaryngologic manifestations of immunodeficiency. Otolaryngol Clin North Am.
;36(4):647-72. doi: 10.1016/s0030-6665(03)00034-3
De Vincentiis GC, Sitzia E, Bottero S, Giuzio L, Simonetti A, Rossi P. Otolaryngologic manifestations of pediatric
immunodeficiency. Int J Pediatr Otorhinolaryngol.2009;73(1):S42-8. doi: 10.1016/S0165-5876(09)70009-6
Huwyler C, Lin SY, Liang J. Primary immunodeficiency and rhinosinusitis. Immunol Allergy Clin North Am.
;40(2):233-49. doi: 10.1016/j.iac.2019.12.003
Raje N, Dinakar C. Overview of Immunodeficiency Disorders. Immunol Allergy Clin North Am. 2015;35(4):599-623. doi:
1016/j.iac.2015.07.001
Cooney TR, Huissoon AP, Powell RJ, Jones NS. Investigation for immunodeficiency in patients with recurrent ENT
infections. Clin Otolaryngol Allied Sci. 2001;26(3):184-8. doi:10.1046/j.1365-2273.2001.00456.x
Aghamohammadi A, Moin M, Karimi A, Naraghi M, Zandieh F, Isaeian A, et al. Immunologic evaluation of patients with
recurrent ear, nose, and throat infections. Am J Otolaryngol.2008;29(6):385-92. doi: 10.1016/j.amjoto.2007.11.007
Pinto-Mariz F. Failure of immunological competence: when to suspect? J Pediatr (Rio J). 2021;97(1):S34-8. doi: 10.1016/j.
jped.2020.10.007
Arkwright PD, Gennery AR. Ten warning signs of primary immunodeficiency: a new paradigm is needed for the
st century. Ann N Y Acad Sci. 2011;1238:7-14. doi:10.1111/j.1749-6632.2011.06206.x
Reula ES, de Arriba Méndez S, Gregorio U, Madrid M. Diagnóstico y manejo de las inmunodeficiencias primarias en
niños. Protoc Diagn Ter Pediatr. 2019;2:415-35.
Amaya-Uribe L, Rojas M, Azizi G, Anaya JM, Gershwin ME. Primary immunodeficiency and autoimmunity: A
comprehensive review. J Autoimmun. 2019;99:52-72. doi:10.1016/j.jaut.2019.01.011
García JM, Gamboa P, de la Calle A, Hernández MD, Caballero MT, García BE, et al. Diagnosis and management
of immunodeficiencies in adults by allergologists. J InvestigAllergol Clin Immunol. 2010;20(3):185-94.
Nayan S, Alizadehfar R, Desrosiers M. Humoral primary immunodeficiencies in chronic rhinosinusitis. Curr Allergy
Asthma Rep. 2015;15(8):46. doi: 10.1007/s11882-015-0547-8
Costa-Carvalho BT, Grumach AS, Franco JL, Espinosa-Rosales FJ, Leiva LE, King A, et al. Attending to warning signs of
primary immunodeficiency diseases across the range of clinical practice. J Clin Immunol. 2014;34(1):10-22. doi: 10.1007/
s10875-013-9954-6
Grumach AS, Goudouris ES. Inborn Errors of Immunity: how to diagnose them? J Pediatr (Rio J). 2021;97(1):S84-S90. doi:
1016/j.jped.2020.11.007
Busse PJ, Christiansen SC. Hereditary angioedema. N Engl JMed. 2020;382(12):1136-48. doi: 10.1056/NEJMra1808012
Yazdani R, Habibi S, Sharifi L, Azizi G, Abolhassani H, Olbrich P, et al. Common variable immunodeficiency: epidemiology, pathogenesis, clinical manifestations, diagnosis, classification,
and management. J Investig Allergol Clin Immunol.2020;30(1):14-34. doi: 10.18176/jiaci.0388
Perez EE, Ballow M. Diagnosis and management of specific antibody deficiency. Immunol Allergy Clin North Am.
;40(3):499-510. doi: 10.1016/j.iac.2020.03.005
Mirra V, Werner C, Santamaria F. Primary ciliary dyskinesia:an update on clinical aspects, genetics, diagnosis, and future
treatment strategies. Front Pediatr. 2017;5:135. doi: 10.3389/fped.2017.00135
Knight V. The utility of flow cytometry for the diagnosis of primary immunodeficiencies. Int J Lab Hematol. 2019;41(1):63-72. doi: 10.1111/ijlh.13010
Magliulo G, Iannella G, Granata G, Ciofalo A, Pasquariello B, Angeletti D, et al. Otologic evaluation of patients with
primary antibody deficiency. Eur Arch Otorhinolaryngol. 2016;273(11):3537-46. doi: 10.1007/s00405-016-3956-y
Walkovich K, Connelly JA. Primary immunodeficiency in the neonate: early diagnosis and management. Semin Fetal NeonatalMed. 2016;21(1):35-43. doi: 10.1016/j.siny.2015.12.005
Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125(2):S182-94. doi: 10.1016/j.
jaci.2009.07.053
Ram G, Chinen J. Infections and immunodeficiency in Down syndrome. Clin Exp Immunol. 2011;164(1):9-16. doi:
1111/j.1365-2249.2011.04335.x
Pahwa R MPJI. Myeloperoxidase deficiency. Treasure Island (FL): StatPearls Publishing; 2022.
Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham- Rundles C, Etzioni A, et al. Human inborn errors of immunity:
update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24-64. doi: 10.1007/s10875-019-00737-x
Szczawinska-Poplonyk A, Begier K, Dorota A, Dabrowska M, Galecka D, Wawrzeniak K, et al. Syndromic
immunodeficiencies: a pediatrician’s perspective on selected diseases. Allergol Immunopathol (Madr). 2021;49(4):117-36.
doi: 10.15586/aei.v49i4.200