Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress 2023 EHA Congress 2023 ASCO Annual Meeting
Clinical Collections
Advances in Alzheimer’s

Keynote webinar | Spotlight on sleep in brain health

LIVE: Thursday 2nd May 2024, 18:00-19:30 (CEST)

Quality sleep is essential for health. But what happens to our brains when sleep patterns are disturbed? Join our experts to explore the interplay between sleep disruption and neurological diseases, and the questions that you need to be asking your patients to help you prevent the harmful effects of sleep deprivation.
ADVANCED SEARCH
Log in
Top
Journal of Clinical Immunology
Published in: Journal of Clinical Immunology 3/2022

01-04-2022 | Primary Immunodeficiency | Original Article

Comprehensive Assessment of Skin Disorders in Patients with Common Variable Immunodeficiency (CVID)

Authors: Ali Zarezadeh Mehrabadi, Nazanin Aghamohamadi, Hassan Abolhassani, Asghar Aghamohammadi, Nima Rezaei, Reza Yazdani

Published in: Journal of Clinical Immunology | Issue 3/2022

Login to get access

Abstract

Background

Common variable immunodeficiency (CVID) is an inborn error of immunity (IEI) characterized by various clinical manifestations such as hypogammaglobulinemia, recurrent infections, and autoimmune diseases. Among different clinical manifestations, skin manifestations have been less reported in these patients.

Methods

In this study, we investigated the prevalence of dermatologic features in 387 CVID patients. Demographic information, clinical manifestations, laboratory data, and genetic findings were collected from medical records. All data were analyzed based on the presence or absence of skin disorders in CVID patients.

Results

We observed at least one skin manifestation in about 40% of these patients. Among these complications, skin infection (n = 64, 42.1%) was the most frequent presentation, followed by non-infectious skin lesions (n = 54, 35.6%). Among skin infections, abscesses (n = 34, 22.4%) were the most common complication. Skin infections such as cellulitis, impetigo, measles, and warts were also documented. Eczema (n = 34, 22.4%) was the most common complication in atopic lesions, and vitiligo (n = 13, 8.5%) was prevalent in autoimmune/pigmentation disorders. Among all the patients with genetic mutations, one-quarter had a deleterious mutation in the LRBA gene, relating to the autoimmune and atopic skin lesions.

Conclusion

This rate of skin disorders in our cohort demonstrating these manifestations could be significant in CVID patients, and they are not rare. Low data of skin complications in CVID patients could be attributed to insufficient attention of physicians and also might alert dermatologists to perform immunological investigations in children with certain skin manifestations.
Appendix
Available only for authorised users
Literature
1.
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.CrossRefPubMed
2.
Albin S, Cunningham-Rundles C. An update on the use of immunoglobulin for the treatment of immunodeficiency disorders. Immunotherapy. 2014;6(10):1113–26.CrossRefPubMed
3.
Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Correction to: human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):65.CrossRefPubMedPubMedCentral
4.
Yazdani R, Abolhassani H, Rezaei N, Azizi G, Hammarström L, Aghamohammadi A. Evaluation of known defective signaling-associated molecules in patients who primarily diagnosed as common variable immunodeficiency. Int Rev Immunol. 2016;35(1):7–24.CrossRefPubMed
5.
Tangye SG, Al-Herz W, Bousfiha A, Cunningham-Rundles C, Franco JL, Holland SM, et al. The ever-increasing array of novel inborn errors of immunity: an interim update by the IUIS committee. J Clin Immunol. 2021;41(3):666–79.CrossRefPubMedPubMedCentral
6.
Yazdani R, Abolhassani H, Kiaee F, Habibi S, Azizi G, Tavakol M, et al. Comparison of common monogenic defects in a large predominantly antibody deficiency cohort. J Allergy Clin Immunol Pract. 2019;7(3):864-78 e9.CrossRefPubMed
7.
Abolhassani H, Aghamohammadi A, Fang M, Rezaei N, Jiang C, Liu X, et al. Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency. Genet Med. 2019;21(1):243–51.CrossRefPubMed
8.
9.
Azizi G, Abolhassani H, Asgardoon MH, Rahnavard J, Dizaji MZ, Yazdani R, et al. The use of Immunoglobulin therapy in primary immunodeficiency diseases. Endocr Metab Immune Disord Drug Targets. 2016;16(2):80–8.CrossRefPubMed
10.
Ho HE, Cunningham-Rundles C. Non-infectious complications of common variable immunodeficiency: updated clinical spectrum, sequelae, and insights to pathogenesis. Front Immunol. 2020;11:149.CrossRefPubMedPubMedCentral
11.
Aghamohammadi A, Abolhassani H, Rezaei N, Kalantari N, Tamizifar B, Cheraghi T, et al. Cutaneous granulomas in common variable immunodeficiency: case report and review of literature. Acta Dermatovenerol Croat. 2010;18(2):107–13.PubMed
12.
Artac H, Bozkurt B, Talim B, Reisli I. Sarcoid-like granulomas in common variable immunodeficiency. Rheumatol Int. 2009;30(1):109–12.CrossRefPubMed
13.
de Wit J, Brada RJK, van Veldhuizen J, Dalm V, Pasmans S. Skin disorders are prominent features in primary immunodeficiency diseases: a systematic overview of current data. Allergy. 2019;74(3):464–82.CrossRefPubMed
14.
Abolhassani H, Kiaee F, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, et al. Fourth update on the Iranian National Registry of Primary Immunodeficiencies: integration of molecular diagnosis. J Clin Immunol. 2018;38(7):816–32.CrossRefPubMed
15.
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, et al. The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity. J Allergy Clin Immunol Pract. 2019;7(6):1763–70.CrossRefPubMed
16.
Abolhassani H, Tavakol M, Chavoshzadeh Z, Mahdaviani SA, Momen T, Yazdani R, et al. National consensus on diagnosis and management guidelines for primary immunodeficiency. Immunol Genet J. 2019;2(1):1–21.
17.
Fekrvand S, Abolhassani H, Delavari S, Yazdani R, Aghamohammadi A. Are asthma and allergic diseases phenotypic markers for patients with common variable immunodeficiency? Ann Allergy Asthma Immunol. 2020;124(6):636.CrossRefPubMed
18.
Kalia SS, Adelman K, Bale SJ, Chung WK, Eng C, Evans JP, et al. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. Genet Med. 2017;19(2):249–55.CrossRefPubMed
19.
Orange JS, Glessner JT, Resnick E, Sullivan KE, Lucas M, Ferry B, et al. Genome-wide association identifies diverse causes of common variable immunodeficiency. J Allergy Clin Immunol. 2011;127(6):1360-7.e6.CrossRefPubMedPubMedCentral
20.
Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood J Am Soc Hematol. 2008;112(2):277–86.
21.
Baloh C, Reddy A, Henson M, Prince K, Buckley R, Lugar P. 30-year review of pediatric- and adult-onset CVID: clinical correlates and prognostic indicators. J Clin Immunol. 2019;39(7):678–87.CrossRefPubMedPubMedCentral
22.
23.
Malphettes M, Gérard L, Carmagnat M, Mouillot G, Vince N, Boutboul D, et al. Late-onset combined immune deficiency: a subset of common variable immunodeficiency with severe T cell defect. Clin Infect Dis. 2009;49(9):1329–38.CrossRefPubMed
24.
Sanchez LA, Maggadottir SM, Pantell MS, Lugar P, Rundles CC, Sullivan KE, et al. Two sides of the same coin: pediatric-onset and adult-onset common variable immune deficiency. J Clin Immunol. 2017;37(6):592–602.CrossRefPubMed
25.
Porter SR, Scully C. Orofacial manifestations in primary immunodeficiencies: common variable immunodeficiencies. J Oral Pathol Med. 1993;22(4):157–8.CrossRefPubMed
26.
Moin A, FARHOUDI A, MOEIN M, Pourpak Z, Bazargan N. Cutaneous manifestations of primary immunodeficiency diseases in children. 2006.
27.
Muşabak UH, Demirel F, Yeşillik S, Baysan A, Selcuk A, Kartal Ö, et al. Adults with common variable immunodeficiency: a singlecenter experience. Turk J Med Sci. 2017;47(1):1–12.CrossRefPubMed
28.
Gualdi G, Lougaris V, Baronio M, Vitali M, Tampella G, Moratto D, et al. Burden of skin disease in selective IgA deficiency and common variable immunodeficiency. J Investig Allergol Clin Immunol. 2015;25(5):369–71.PubMed
29.
Toossi P, Nabai L, Alaee Z, Ahmadi H, Saatee S. Prevalence of skin diseases and cutaneous manifestations among Iranian children: a survey of 1417 children. Arch Dermatol. 2007;143(1):115–26.CrossRefPubMed
30.
Baghestani S, Zare S, Mahboobi A-A. Skin disease patterns in Hormozgan, Iran. Int J Dermatol. 2005;44(8):641–5.CrossRefPubMed
31.
Patuzzo G, Barbieri A, Tinazzi E, Veneri D, Argentino G, Moretta F, et al. Autoimmunity and infection in common variable immunodeficiency (CVID). Autoimmun Rev. 2016;15(9):877–82.CrossRefPubMed
32.
Oksenhendler E, Gérard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis. 2008;46(10):1547–54.CrossRefPubMed
33.
Duraisingham S, Hanson S, Buckland M, Grigoriadou S, Longhurst H. Pseudomonas infection in antibody deficient patients. Eur J Microbiol Immunol. 2014;4(4):198–203.CrossRef
34.
Azizi G, Rezaei N, Kiaee F, Tavakolinia N, Yazdani R, Mirshafiey A, et al. T-cell abnormalities in common variable immunodeficiency. J Investig Allergol Clin Immunol. 2016;26(4):233–43.CrossRefPubMed
35.
Azizi G, Hafezi N, Mohammadi H, Yazdani R, Alinia T, Tavakol M, et al. Abnormality of regulatory T cells in common variable immunodeficiency. Cell Immunol. 2017;315:11–7.CrossRefPubMed
36.
Rousalova I, Krepela E. Granzyme B-induced apoptosis in cancer cells and its regulation (review). Int J Oncol. 2010;37(6):1361–78.PubMed
37.
Turner CT, Lim D, Granville DJ. Granzyme B in skin inflammation and disease. Matrix Biol. 2019;75–76:126–40.CrossRefPubMed
38.
Duncan FJ, Silva KA, Johnson CJ, King BL, Szatkiewicz JP, Kamdar SP, et al. Endogenous retinoids in the pathogenesis of alopecia areata. J Investig Dermatol. 2013;133(2):334–43.CrossRefPubMed
39.
Pecoraro A, Crescenzi L, Varricchi G, Marone G, Spadaro G. Heterogeneity of liver disease in common variable immunodeficiency disorders. Front Immunol. 2020;11:338.CrossRefPubMedPubMedCentral
40.
Moschos AKSBJ. Skin manifestations of liver diseases. Ann Hepatol. 2007:181–4.
41.
Tesch VK, Abolhassani H, Shadur B, Zobel J, Mareika Y, Sharapova S, et al. Long-term outcome of LRBA deficiency in 76 patients after various treatment modalities as evaluated by the immune deficiency and dysregulation activity (IDDA) score. J Allergy Clin Immunol. 2020;145(5):1452–63.CrossRefPubMed
42.
Meshaal S, El Hawary R, Adel R, Abd Elaziz D, Erfan A, Lotfy S, et al. Clinical phenotypes and immunological characteristics of 18 Egyptian LRBA deficiency patients. J Clin Immunol. 2020;40(6):820–32.CrossRefPubMed
Metadata
Title
Comprehensive Assessment of Skin Disorders in Patients with Common Variable Immunodeficiency (CVID)
Authors
Ali Zarezadeh Mehrabadi
Nazanin Aghamohamadi
Hassan Abolhassani
Asghar Aghamohammadi
Nima Rezaei
Reza Yazdani
Publication date
01-04-2022
Publisher
Springer US
Published in
Journal of Clinical Immunology / Issue 3/2022
Print ISSN: 0271-9142
Electronic ISSN: 1573-2592
DOI
https://doi.org/10.1007/s10875-022-01211-x

Other articles of this Issue 3/2022

Journal of Clinical Immunology 3/2022 Go to the issue

Correction

Correction to: The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity

Original Article

The Immune Deficiency and Dysregulation Activity (IDDA2.1 ‘Kaleidoscope’) Score and Other Clinical Measures in Inborn Errors of Immunity

Original Article

First Identified Case of Fatal Fulminant Necrotizing Eosinophilic Myocarditis Following the Initial Dose of the Pfizer-BioNTech mRNA COVID-19 Vaccine (BNT162b2, Comirnaty): an Extremely Rare Idiosyncratic Hypersensitivity Reaction

Correction

Correction to: CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics

Original Article

Clinicopathological Manifestations and Immune Phenotypes in Adult-Onset Immunodeficiency with Anti-interferon-γ Autoantibodies

Letter to Editor

Hematopoietic Cell Transplant for CD40 Ligand Deficiency—Comparing Busulfan Versus Treosulfan

ACC 2024 Congress Coverage

Cardiology Video

Highlights from the ACC 2024 Congress

Watch now

Watch official videos from the ACC congress summarizing key highlights from the last year in heart failure, cardiomyopathies, valvular disease, pulmonary vascular disease, and pediatric cardiology.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits