Pyoderma Gangrenosum with an Underlying Leukocyte Adhesion Deficiency Type 1 (LAD-1) and Pregnancy in the Shade of COVID-19 Epidemic: A Patient and Physician Experience.
COVID-19
Cyclosporine
Leukocyte adhesion deficiency type 1
Prednisolone
Pregnancy
Pyoderma gangrenosum
Journal
Dermatology and therapy
ISSN: 2193-8210
Titre abrégé: Dermatol Ther (Heidelb)
Pays: Switzerland
ID NLM: 101590450
Informations de publication
Date de publication:
Jun 2021
Jun 2021
Historique:
received:
19
01
2021
pubmed:
10
3
2021
medline:
10
3
2021
entrez:
9
3
2021
Statut:
ppublish
Résumé
In the first part of this article, the anonymous patient diagnosed with leukocyte adhesion deficiency type 1 (LAD-1) and pyoderma gangrenosum (PG) discusses her experience of her medical history and treatment in a foreign country during her pregnancy and the coronavirus disease-19 (COVID-19) pandemic. The patient's dermatologists, immunologist, and diagnostician refer to the epidemiology, genetics, diagnosis, morphologic manifestations, including skin lesions, treatment, and prognosis in LAD-1. The patient's diagnostic and therapeutic process was discussed in the last part of this paper.
Identifiants
pubmed: 33686591
doi: 10.1007/s13555-021-00507-x
pii: 10.1007/s13555-021-00507-x
pmc: PMC7939102
doi:
Types de publication
Letter
Langues
eng
Pagination
643-653Références
Hayward AR, Harvey BA, Leonard J, Greenwood MC, Wood CB, Soothill JF. Delayed separation of the umbilical cord, widespread infections, and defective neutrophil mobility. Lancet. 1979;8126:1099–101.
doi: 10.1016/S0140-6736(79)91786-0
Harris ES, Weyrich AS, Zimmerman GA. Lessons from rare maladies: leukocyte adhesion deficiency syndromes. Curr Opin Hematol. 2013;20:16–25.
pubmed: 23207660
pmcid: 3564641
Hibbs ML, Wardlaw AJ, Stacker SA, et al. Transfection of cells from patients with leukocyte adhesion deficiency with an integrin beta subunit (CD18) restores lymphocyte function-associated antigen-1 expression and function. J Clin Invest. 1990;85:674–81.
doi: 10.1172/JCI114491
van de Vijver E, Maddalena A, Sanal Ö, et al. Hematologically important mutations: leukocyte adhesion deficiency (first update). Blood Cells Mol Dis. 2012;48:53–61.
doi: 10.1016/j.bcmd.2011.10.004
Fagerholm SC, Guenther C, Llort Asens M, Savinko T, Uotila LM. Beta2-integrins and interacting proteins in leukocyte trafficking, immune suppression, and immunodeficiency disease. Front Immunol. 2019;10:254.
doi: 10.3389/fimmu.2019.00254
Levy-Mendelovich S, Rechavi E, Abuzaitoun O, et al. Highlighting the problematic reliance on CD18 for diagnosing leukocyte adhesion deficiency type 1. Immunol Res. 2016;64:476–82.
doi: 10.1007/s12026-015-8706-5
Kuijpers TW, Van Lier RA, Hamann D, et al. Leukocyte adhesion deficiency type 1 (LAD-1)/variant. A novel immunodeficiency syndrome characterized by dysfunctional beta2 integrins. J Clin Invest. 1997;100:1725–33.
doi: 10.1172/JCI119697
Kohl S, Springer TA, Schmalstieg FC, Loo LS, Anderson DC. Defective natural killer cytotoxicity and polymorphonuclear leukocyte antibody-dependent cellular cytotoxicity in patients with LFA-1/OKM-1 deficiency. J Immunol. 1984;133:2972–8.
pubmed: 6092461
Bednarczyk M, Stege H, Grabbe S, Bros M. β2 Integrins-multi-functional leukocyte receptors in health and disease. Int J Mol Sci. 2020;21:1402.
doi: 10.3390/ijms21041402
Anderson DC, Schmalsteig FC, Finegold MJ, et al. The severe and moderate phenotypes of heritable Mac-1, LFA-1 deficiency: their quantitative definition and relation to leukocyte dysfunction and clinical features. J Infect Dis. 1985;152:668–89.
doi: 10.1093/infdis/152.4.668
Springer TA. Traffic signals for lymphocyte recirculation and leukocyte emigration: the multistep paradigm. Cell. 1994;76:301–14.
doi: 10.1016/0092-8674(94)90337-9
Etzioni A. Genetic etiologies of leukocyte adhesion defects. Curr Opin Immunol. 2009;21:481–6.
doi: 10.1016/j.coi.2009.07.005
Tone Y, Wada T, Shibata F, et al. Somatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1. Blood. 2007;109:1182–4.
doi: 10.1182/blood-2006-08-039057
El-Sayed ZA, El-Ghoneimy DH, Abd-Allah H, Afifi HM. A rare association between leukocyte adhesion deficiency type I and psoriasis in humans. Allergy Asthma Immunol Res. 2011;3:138–40.
doi: 10.4168/aair.2011.3.2.138
Vasconcelos Dde M, Beitler B, Martinez GA, et al. CD18 deficiency evolving to megakaryocytic (M7) acute myeloid leukemia: case report. Blood Cells Mol Dis. 2014;53:180–4.
doi: 10.1016/j.bcmd.2014.07.005
De Rose DU, Giliani S, Notarangelo LD, et al. Long term outcome of eight patients with type 1 leukocyte adhesion deficiency (LAD-1): not only infections, but high risk of autoimmune complications. Clin Immunol. 2018;191:75–80.
doi: 10.1016/j.clim.2018.03.005
Moutsopoulos NM, Konkel J, Sarmadi M, et al. Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17-driven inflammatory bone loss. Sci Transl Med. 2014;6:229ra40.
doi: 10.1126/scitranslmed.3007696
van de Vijver E, van den Berg TK, Kuijpers TW. Leukocyte adhesion deficiencies. Hematol Oncol Clin North Am. 2013;27:101–16.
doi: 10.1016/j.hoc.2012.10.001
Movahedi M, Entezari N, Pourpak Z, et al. Clinical and laboratory findings in Iranian patients with leukocyte adhesion deficiency (study of 15 cases). J Clin Immunol. 2007;27:302–7.
doi: 10.1007/s10875-006-9069-4
Marsili M, Lougaris V, Lucantoni M, et al. Successful anti-TNF-α treatment in a girl with LAD-1 disease and autoimmune manifestations. J Clin Immunol. 2014;34:788–91.
doi: 10.1007/s10875-014-0086-4
Uzel G, Kleiner DE, Kuhns DB, Holland SM. Dysfunctional LAD-1 neutrophils and colitis. Gastroenterology. 2001;121:958–64.
doi: 10.1053/gast.2001.28022
Simpson AM, Chen K, Bohnsack JF, Lamont MN, Siddiqi FA, Gociman B. Pyoderma gangrenosum-like wounds in leukocyte adhesion deficiency: case report and review of literature. Plast Reconstr Surg Glob Open. 2018;6:e1886.
doi: 10.1097/GOX.0000000000001886
Madkaikar M, Italia K, Gupta M, et al. Leukocyte adhesion deficiency-I with a novel intronic mutation presenting with pyoderma gangrenosum-like lesions. J Clin Immunol. 2015;35:431–4.
doi: 10.1007/s10875-015-0155-3
Cantisani C, Naqeshbandi AF, Goldust M, Lampitelli S, Cantoresi F, Alsorori E. Type I leucocyte adhesion deficiency in Yemenian family managed with appropriate treatment: a case series. Dermatol Ther. 2019;32:e12864.
pubmed: 30834665
Thakur N, Sodani R, Chandra J, Singh V. Leukocyte adhesion defect type 1 presenting with recurrent pyoderma gangrenosum. Indian J Dermatol. 2013;58:158.
doi: 10.4103/0019-5154.108076
Maverakis E, Marzano AV, Le ST, et al. Pyoderma gangrenosum. Nat Rev Dis Primers. 2020;6:81.
doi: 10.1038/s41572-020-0213-x
Braswell SF, Kostopoulos TC, Ortega-Loayza AG. Pathophysiology of pyoderma gangrenosum (PG): an updated review. J Am Acad Dermatol. 2015;73:691–8.
doi: 10.1016/j.jaad.2015.06.021
DeFilippis EM, Feldman SR, Huang WW. The genetics of pyoderma gangrenosum and implications for treatment: a systematic review. Br J Dermatol. 2015;172:1487–97.
doi: 10.1111/bjd.13493
Goldust M, Hagstrom EL, Rathod D, Ortega-Loayza AG. Diagnosis and novel clinical treatment strategies for pyoderma gangrenosum. Expert Rev Clin Pharmacol. 2020;13:157–61.
doi: 10.1080/17512433.2020.1709825
Almarza Novoa E, Kasbekar S, Thrasher AJ, et al. Leukocyte adhesion deficiency-I: a comprehensive review of all published cases. J Allergy Clin Immunol Pract. 2018;6(1418–20):e10.
Chakraborty S, Gupta D, Thakral D, et al. Successful reconstitution of leukocyte adhesion defect after umbilical cord blood stem cell transplant. Cent Eur J Immunol. 2020;45:117–21.
doi: 10.5114/ceji.2020.94713
Qian X, Wang P, Wang H, et al. Successful umbilical cord blood transplantation in children with leukocyte adhesion deficiency type I. Transl Pediatr. 2020;9:34–42.
doi: 10.21037/tp.2020.01.06
Wolach B, Gavrieli R, Wolach O, et al. Leucocyte adhesion deficiency—a multicentre national experience. Eur J Clin Invest. 2019;49:e13047.
doi: 10.1111/eci.13047
Moutsopoulos NM, Zerbe CS, Wild T, et al. Interleukin-12 and interleukin-23 blockade in leukocyte adhesion deficiency type 1. N Engl J Med. 2017;376:1141–6.
doi: 10.1056/NEJMoa1612197