Keywords
English
Abstract
Objective: Estimate the prevalence of dermatological manifestations in Mexican patients with common variable immunodeficiency.
Methods: Cross-sectional and retrospective study, based on the analysis of records of patients with a diagnosis of common variable immunodeficiency, treated at the Siglo XXI National Medical Center (Mexican Social Security Institute), according to the criteria of the European Society of Immunodeficiencies (ESID). and of which only 3 had a genetic diagnosis with the following mutations: IRF2, CTLA4 and PIK-3, belonging to the Immunodeficiency Clinic of the National Medical Center Siglo XXI (IMSS), to evaluate dermatological manifestations, review of laboratory tests: IgA, IgM, IgG and type of replacement therapy with Immunoglobulin. The statistical analysis was carried out with the SPSS program; Descriptive statistics were used to analyze the data, according to the type of variable to be analyzed.
Results: 36 patients were included, of which 55.5% were women; with median age 34 years (18-94). The prevalence of dermatological manifestations was 70% (n = 25). 30.5% had a history of infectious dermatosis and 39.5% had a history of non-infectious dermatosis. The most common dermatosis was irritant contact dermatitis in 13.8% of patients. All received replacement therapy with human immunoglobulin, 33.3% intravenously and the rest subcutaneously.
Conclusions: Common variable immunodeficiency is an inborn error of immunity, with different clinical manifestations in various organs and systems (the skin is one of these). Dermatological manifestations are not usually described in patients with common variable immunodeficiency; However, it is important to identify them due to their relationship with certain complications (increased risk of superinfection), due to skin disruption and biological therapies.
Keywords: Antibody immunodeficiency; Common variable immunodeficiency; skin diseases.
References
Chapel H, Lucas M, Lee M, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood 2008; 112 (2): 277-286. doi: 10.1182/blood-2007-11-124545
Laura Berrón-Ruiz. Alteraciones inmunológicas en la inmunodeficiencia común variable. Rev Alert Mex 2017; 64: 87-108.
Yazdani R, Habibi S, Sharifi L, et al. Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations,
Diagnosis, Classification, and Management. J Investing Allergol Clin Immunol 2020; 30 (1): 14-34. doi: 10.18176/jiaci.0388
Wehr C, Kivioja T, Schmitt C, et al. The EUROclass trial: defining subgroups in common variable immunodeficiency. Blood 2008; 111 (1): 77-85. doi: 10.1182/blood-2007-06-091744
Jørgensen SF, Trøseid M, Kummen M, et al. Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation. Mucosal Immunol 2016; 9 (6): 1455-1465. doi: 10.1038/mi.2016.18
Diego S. Fernández Romero, María C. Juri, María V. Paolini, Alejandro Malbrán. Inmunodeficiencia común variable epidemiología y manifestaciones clínicas en 69 pacientes. Medicina (Buenos Aires) 2013; 73: 315-323.
Saikia B, Gupta S. Common Variable Immunodeficiency. The Indian Journal of Pediatrics 2016; 83 (4): 338-344. doi: 10.1007/s12098-016- 2038-x
Cabañero-Navalon MD, Garcia-Bustos V, Nuñez-Beltran M, et al. Current clinical spectrum of common variable immunodeficiency
in Spain: The multicentric nationwide GTEM-SEMICVID registry. Front Immunol 2022; 13. doi: 10.3389/fimmu.2022.1033666
Iglesias-Alzueta J, Matamoros-Florí N. Inmunodeficiencia variable común. Revisión. Allergol Immunopathol (Madr) 2001; 29 (3): 113-118. doi: 10.1016/S0301-0546(01)79029-5
LASID Latin American Society for Immunodeficiencies. https://lasidregistry.org/.
Bousfiha A, Jeddane L, Picard C, et al. Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification. J Clin Immunol 2020; 40 (1): 66-81. doi: 10.1007/s10875-020-00758-x
Soler-Palacín P. Inmunodeficiencias primarias. Congreso de Actualización Pediatría 2020. Published online 2020:311-320.
Tam JS, Routes JM. Common Variable Immunodeficiency. Am J Rhinol Allergy 2013; 27 (4): 260-265. doi: 10.2500/ajra.2013.27.3899
Driessen GJ, van Zelm MC, van Hagen PM, et al. B-cell replication history and somatic hypermutation status identify distinct pathophysiologic backgrounds in common variable immunodeficiency. Blood 2011; 118 (26): 6814-6823. doi: 10.1182/blood-2011-06-361881
Enrique-Iáñez Pareja. Inmunoglobulinas y otras moléculas de células B. Curso de Inmunología General, Departamento de Microbiología Universidad de Granada. Published online 1999. https://www.ugr.es/~eianez/inmuno/cap_05.htm
Martinez-Gallo M, Radigan L, Almejún MB, Martínez-Pomar N, Matamoros N, Cunningham-Rundles C. TACI mutations and impaired B-cell function in subjects with CVID and healthy heterozygotes. J Allergy Clin Immunol 2013; 131 (2): 468-476. doi: 10.1016/j.jaci.2012.10.029
Romberg N, Chamberlain N, Saadoun D, et al. CVID-associated TACI mutations affect autoreactive B cell selection and activation.
J Clin Inves 2013; 123 (10): 4283-4293. doi: 10.1172/JCI69854
Yu JE, Knight AK, Radigan L, et al. Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J Allergy
Clin Immunol 2009; 124 (2): 349-356.e3. doi: 10.1016/j.jaci.2009.05.019
Graziano V, Pecoraro A, Mormile I, et al. Delay in diagnosis affects the clinical outcome in a cohort of CVID patients with marked reduction of IgA serum levels. Clin Immunol 2017; 180: 1-4. doi: 10.1016/j.clim.2017.03.011
Bigley V, Haniffa M, Doulatov S, et al. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exper Med 2011; 208 (2): 227-234. doi: 10.1084/jem.20101459 21. Ramos-Rodríguez C, Martín-Dávila F, Garrido-Martín JA. Granulomas cutáneos no infecciosos en inmunodeficiencia común variable. Rev Esp Patol 2015: 159-162.
Roskin KM, Simchoni N, Liu Y, et al. IgH sequences in common variable immune deficiency reveal altered B cell development and selection. Sci Transl Med 2015; 7 (302). doi: 10.1126/scitranslmed.aab1216
Mouillot G, Carmagnat M, Gérard L, et al. B-Cell and T-Cell Phenotypes in CVID Patients Correlate with the Clinical Phenotype
of the Disease. J Clin Immunol 2010; 30 (5): 746-755. doi: 10.1007/s10875-010-9424-3
Zarezadeh-Mehrabadi A, Aghamohamadi N, Abolhassani H, Aghamohammadi A, et al. Comprehensive Assessment of Skin Disorders in Patients with Common Variable Immunodeficiency (CVID). J Clin Immunol 2022; 42 (3): 653-664. doi: 10.1007/s10875-022-01211-x
Megna M, Pecoraro A, Balato N, et al. Psoriasis in a cohort of patients with common variable immunodeficiency. Br J Dermatol
; 180 (4): 935-936. doi: 10.1111/bjd.17408
Gualdi G, Lougaris V, Baronio M, et al. Burden of Skin Disease in Selective IgA Deficiency and Common Variable immunodeficiency. J Investig Allergol Clin Immunol 2015; 25 (5): 369-371.
Xiao X, Miao Q, Chang C, Gershwin ME, Ma X. Common variable immunodeficiency, and autoimmunity – an inconvenient truth. Autoimmun Rev 2014; 13 (8): 858-864. doi: 10.1016/j.autrev.2014.04.006
Bergler-Czop B, Brzezińska-Wcisło L. Pyoderma gangrenosum in a patient with common variable primary immunodeficiency.
Ad Dermatol Allergol 2013; 3: 188-191. doi: 10.5114/pdia.2013.35622
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Copyright (c) 2024 Revista Alergia México