PRIMARY IMMUNODEFICIENCIES WITH ECZEMATOUS MANIFESTATION : AN UPDATED REVIEW
Abstract
Mutations in the set of genes responsible for adequate development and function of the immune system also affect the skin-associated lymphoid tissue (SALT). As a result of inborn genetic errors, patients develop one of the 430 different primary immunodeficiencies defined to date. Globally, nearly 6 million people are living with a primary immunodeficiency, with an estimated incidence of 1 case per 10.000 inhabitants. Despite modern and accessible diagnostic technologies, patients still receive delayed diagnoses. We conducted a search for original articles, review articles, and case reports published in scientific journals available in the PubMed database by using the following keywords: primary immunodeficiency AND eczematous rash OR skin manifestations. This review article mainly focuses on skin manifestations of primary immunodeficiencies with eczematous rash.
Keywords: primary immunodeficiency, eczematous lesions, skin manifestations, Wiskott-Aldrich Syndrome, Autosomal dominant hyper-IgE syndrome, Autosomal recessive hyper-IgE syndrome, Comèl-Netherton syndrome, Omenn syndrome, IPEX syndrome.
References
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25. Tar I, Szegedi M, Krasuska-Sławińska E, Heropolitańska-Pliszka E, Bernatowska EA, Öncü E, Keles S, Guner SN, Reisli I, Gesheva N, Naumova E, Izakovicova-Holla L, Litzman J, Savchak I, Kostyuchenko L, Erdõs M. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome. Cent Eur J Immunol. 2023;48(3):228-236.
26. Sowerwine KJ, Shaw PA, Gu W, Ling JC, Collins MT, Darnell DN, Anderson VL, Davis J, Hsu A, Welch P, Puck JM, Holland SM, Freeman AF. Bone density and fractures in autosomal dominant hyper IgE syndrome. J Clin Immunol. 2014 Feb;34(2):260-4.
27. Kumánovics A, Perkins SL, Gilbert H, Cessna MH, Augustine NH, Hill HR. Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation. J Clin Immunol. 2010 Nov;30(6):886-93.
28. Ollech A, Mashiah J, Lev A, Simon AJ, Somech R, Adam E, Barzilai A, Hagin D, Greenberger S. Treatment options for DOCK8 deficiency-related severe dermatitis. J Dermatol. 2021 Sep;48(9):1386-1393. doi: 10.1111/1346-8138.15955. Epub 2021 May 27. PMID: 34043252.
29. Biggs CM, Keles S, Chatila TA. DOCK8 deficiency: Insights into pathophysiology, clinical features and management. Clin Immunol. 2017 Aug;181:75-82.
30. Wu J, Hong L, Chen TX. Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media. Curr Allergy Asthma Rep. 2018 Aug 15;18(10):51.
31. Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-MartÃn A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA. Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma. J Eur Acad Dermatol Venereol. 2022 Jul;36(7):973-986.
32. Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, Ocampo-Candiani J, Cab-Morales VA, Kubelis-López DE. Netherton Syndrome: Case Report and Review of the Literature. Skin Appendage Disord. 2021 Aug;7(5):346-350.
33. Kennedy-Batalla R, Acevedo D, Luo Y, Esteve-Solé A, Vlagea A, Correa-Rocha R, Seoane-Reula ME, Alsina L. Treg in inborn errors of immunity: gaps, knowns and future perspectives. Front Immunol. 2024 Jan 8;14:1278759.
34. Paparella R, Menghi M, Micangeli G, Leonardi L, Profeta G, Tarani F, Petrella C, Ferraguti G, Fiore M, Tarani L. Autoimmune Polyendocrine Syndromes in the Pediatric Age. Children (Basel). 2023 Mar 19;10(3):588.
35. Halabi-Tawil M, Ruemmele FM, Fraitag S, Rieux-Laucat F, Neven B, Brousse N, De Prost Y, Fischer A, Goulet O, Bodemer C. Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Br J Dermatol. 2009 Mar;160(3):645-51.
2.Kobayashi T, Naik S, Nagao K. Choreographing Immunity in the Skin Epithelial Barrier. Immunity. 2019 Mar 19;50(3):552-565.
3. Mansfield K, Naik S. Unraveling Immune-Epithelial Interactions in Skin Homeostasis and Injury. Yale J Biol Med. 2020 Mar 27;93(1):133-143.
4.Meyts I, Bousfiha A, Duff C, Singh S, Lau YL, Condino-Neto A, Bezrodnik L, Ali A, Adeli M, Drabwell J. Primary Immunodeficiencies: A Decade of Progress and a Promising Future. Front Immunol. 2021 Feb 18;11:625753.
5.Lehman H. Skin manifestations of primary immune deficiency. Clin Rev Allergy Immunol. 2014 Apr;46(2):112-9.
6. Mirchandani N, Hawit F, Silverberg NB. Cutaneous signs of neonatal and infantile immunodeficiency. Dermatol Ther. 2005 Mar-Apr;18(2):176-83.
7. Sediva A, Bataneant M, Belevtsev M, Blaziene A, Ciznar P, Förster-Waldl E, Kelecic J, Marodi J, Naumova E, Nasrullayeva G, Ress K, Serban M, Sitkauskiene B, Toth B, Modell V, Modell F, Tenembaum V, Marković M, Avcin T. Primary immunodeficiencies in Central and Eastern Europe-the power of networking Report on the activity of the Jeffrey Modell Foundation Centers Network in Central and Eastern Europe. Immunol Res. 2019 Oct;67(4-5):358-367.
8. Mayampurath A, Ajith A, Anderson-Smits C, Chang SC, Brouwer E, Johnson J, Baltasi M, Volchenboum S, Devercelli G, Ciaccio CE. Early Diagnosis of Primary Immunodeficiency Disease Using Clinical Data and Machine Learning. J Allergy Clin Immunol Pract. 2022 Nov;10(11):3002-3007.e5.
9. Ettinger M, Schreml J, Wirsching K, Berneburg M, Schreml S. Skin signs of primary immunodeficiencies: how to find the genes to check. Br J Dermatol. 2018 Feb;178(2):335-349.
10. Pan C, Zhao A, Li M. Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management. Diagnostics (Basel). 2022 Sep 9;12(9):2177.
11. Chandra S, Bronicki L, Nagaraj CB, et al. WAS-Related Disorders. 2004 Sep 30 [Updated 2016 Sep 22]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1178/
12. Malik MA, Masab M. Wiskott-Aldrich Syndrome. [Updated 2022 Dec 28]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK539838/
13. Bradley M, Söderhäll C, Wahlgren CF, Luthman H, Nordenskjöld M, Kockum I. The Wiskott-Aldrich syndrome gene as a candidate gene for atopic dermatitis. Acta Derm Venereol. 2001 Oct-Nov;81(5):340-2.
14. Blundell MP, Worth A, Bouma G, Thrasher AJ. The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function. Dis Markers. 2010;29(3-4):157-75.
15. Rivers E, Worth A, Thrasher AJ, Burns SO. How I manage patients with Wiskott Aldrich syndrome. Br J Haematol. 2019 May;185(4):647-655.
16.Wang V, Boguniewicz J, Boguniewicz M, Ong PY. The infectious complications of atopic dermatitis. Ann Allergy Asthma Immunol. 2021 Jan;126(1):3-12. doi: 10.1016/j.anai.2020.08.002. Epub 2020 Aug 7. PMID: 32771354; PMCID: PMC7411503.
17. Minegishi Y. Hyper-IgE syndrome, 2021 update. Allergol Int. 2021 Oct;70(4):407-414.
18. Szczawinska-Poplonyk A, Kycler Z, Pietrucha B, Heropolitanska-Pliszka E, Breborowicz A, Gerreth K. The hyperimmunoglobulin E syndrome--clinical manifestation diversity in primary immune deficiency. Orphanet J Rare Dis. 2011 Nov 15;6:76.
19. Tsilifis C, Freeman AF, Gennery AR. STAT3 Hyper-IgE Syndrome-an Update and Unanswered Questions. J Clin Immunol. 2021 Jul;41(5):864-880.
20. Hafsi W, Yarrarapu SNS. Job Syndrome. [Updated 2023 Aug 28]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2023 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK525947/
21. Orphanet: an online database of rare diseases and orphan drugs. Copyright, INSERM 1997. Available at http://www.orpha.net Accessed 22.12.2023
22. Sillevis Smitt JH, Kuijpers TW. Cutaneous manifestations of primary immunodeficiency. Curr Opin Pediatr. 2013 Aug;25(4):492-7. doi: 10.1097/MOP.0b013e3283623b9f. PMID: 23744097.
23. Park B, Liu GY. Staphylococcus aureus and Hyper-IgE Syndrome. Int J Mol Sci. 2020 Dec 1;21(23):9152.
24. Yavuz H, Chee R. A review on the vascular features of the hyperimmunoglobulin E syndrome. Clin Exp Immunol. 2010 Mar;159(3):238-44.
25. Tar I, Szegedi M, Krasuska-Sławińska E, Heropolitańska-Pliszka E, Bernatowska EA, Öncü E, Keles S, Guner SN, Reisli I, Gesheva N, Naumova E, Izakovicova-Holla L, Litzman J, Savchak I, Kostyuchenko L, Erdõs M. Intraoral and maxillofacial abnormalities in patients with autosomal dominant hyper-IgE syndrome. Cent Eur J Immunol. 2023;48(3):228-236.
26. Sowerwine KJ, Shaw PA, Gu W, Ling JC, Collins MT, Darnell DN, Anderson VL, Davis J, Hsu A, Welch P, Puck JM, Holland SM, Freeman AF. Bone density and fractures in autosomal dominant hyper IgE syndrome. J Clin Immunol. 2014 Feb;34(2):260-4.
27. Kumánovics A, Perkins SL, Gilbert H, Cessna MH, Augustine NH, Hill HR. Diffuse large B cell lymphoma in hyper-IgE syndrome due to STAT3 mutation. J Clin Immunol. 2010 Nov;30(6):886-93.
28. Ollech A, Mashiah J, Lev A, Simon AJ, Somech R, Adam E, Barzilai A, Hagin D, Greenberger S. Treatment options for DOCK8 deficiency-related severe dermatitis. J Dermatol. 2021 Sep;48(9):1386-1393. doi: 10.1111/1346-8138.15955. Epub 2021 May 27. PMID: 34043252.
29. Biggs CM, Keles S, Chatila TA. DOCK8 deficiency: Insights into pathophysiology, clinical features and management. Clin Immunol. 2017 Aug;181:75-82.
30. Wu J, Hong L, Chen TX. Clinical Manifestation of Hyper IgE Syndrome Including Otitis Media. Curr Allergy Asthma Rep. 2018 Aug 15;18(10):51.
31. Cuperus E, Bygum A, Boeckmann L, Bodemer C, Bolling MC, Caproni M, Diociaiuti A, Emmert S, Fischer J, Gostynski A, Guez S, van Gijn ME, Hannulla-Jouppi K, Has C, Hernández-MartÃn A, Martinez AE, Mazereeuw-Hautier J, Medvecz M, Neri I, Sigurdsson V, Suessmuth K, Traupe H, Oji V, Pasmans SGMA. Proposal for a 6-step approach for differential diagnosis of neonatal erythroderma. J Eur Acad Dermatol Venereol. 2022 Jul;36(7):973-986.
32. Herz-Ruelas ME, Chavez-Alvarez S, Garza-Chapa JI, Ocampo-Candiani J, Cab-Morales VA, Kubelis-López DE. Netherton Syndrome: Case Report and Review of the Literature. Skin Appendage Disord. 2021 Aug;7(5):346-350.
33. Kennedy-Batalla R, Acevedo D, Luo Y, Esteve-Solé A, Vlagea A, Correa-Rocha R, Seoane-Reula ME, Alsina L. Treg in inborn errors of immunity: gaps, knowns and future perspectives. Front Immunol. 2024 Jan 8;14:1278759.
34. Paparella R, Menghi M, Micangeli G, Leonardi L, Profeta G, Tarani F, Petrella C, Ferraguti G, Fiore M, Tarani L. Autoimmune Polyendocrine Syndromes in the Pediatric Age. Children (Basel). 2023 Mar 19;10(3):588.
35. Halabi-Tawil M, Ruemmele FM, Fraitag S, Rieux-Laucat F, Neven B, Brousse N, De Prost Y, Fischer A, Goulet O, Bodemer C. Cutaneous manifestations of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Br J Dermatol. 2009 Mar;160(3):645-51.
Published
2024-10-23
How to Cite
RIBARSKI, Ordanche; DAMEVSKA, Katerina.
PRIMARY IMMUNODEFICIENCIES WITH ECZEMATOUS MANIFESTATION : AN UPDATED REVIEW.
Journal of Morphological Sciences, [S.l.], v. 7, n. 2, p. 62-70, oct. 2024.
ISSN 2545-4706.
Available at: <https://jms.mk/jms/article/view/vol7no2-8>. Date accessed: 21 nov. 2024.
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