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19. IgE autoantibodies in serum and skin of non‐bullous and bullous pemphigoid patients.

Author

Lamberts, A., Kotnik, N., Diercks, G.F.H., Meijer, J.M., Di Zenzo, G., Pas, H.H., Jonkman, M.F., Gibbs, B.F., Raap, U., and Horváth, B.

Subjects
BULLOUS pemphigoid, AUTOANTIBODIES, OLDER patients, ENZYME-linked immunosorbent assay, MAST cells, BASAL lamina
Abstract

Background: Non‐bullous pemphigoid (NBP) is a pemphigoid variant which frequently resembles other pruritic skin diseases. In contrast with bullous pemphigoid (BP), blisters are absent. In BP, previous studies showed that IgE autoantibodies may be involved in its pathogenesis. IgE‐activated mast cells, basophils and eosinophils may participate in BP by inducing pruritus and possibly blister formation, although the differential role of IgE in NBP compared with BP has not yet been described. Objective: To assess IgE in serum and skin of NBP and BP patients. Methods: We examined total IgE and pemphigoid‐specific IgE in the serum of 68 NBP and 50 BP patients by enzyme‐linked immunosorbent assay (ELISA). Sera of 25 pemphigus patients and 25 elderly patients with pruritus were included as controls. Skin biopsies of 14 NBP and 14 BP patients with the highest IgE titres to NC16A were stained for IgE by immunofluorescence techniques. Results: Total IgE was elevated in 63% of NBP and 60% of BP patients, and in 20% of pemphigus controls, as well as 60% of elderly controls. IgE ELISAs were more frequently positive in BP than in NBP (NC16A 18% vs. 9%, P = 0.139; BP230 34% vs. 22%, P = 0.149). IgE ELISAs for NC16A and BP230 were positive in 8% and 20% of elderly controls, respectively, while all pemphigus controls were negative. Two of 28 biopsies (7%; one NBP, one BP) showed linear IgE along the basement membrane zone, while in most biopsies (71% NBP; 86% BP) IgE was bound to dermal cells. Conclusion: Since IgE was present in the serum and skin of both NBP and BP patients, this supports IgE‐dependent mechanisms common to both diseases, such as pruritus. However, it remains to be elucidated whether IgE contributes to blister formation in BP. Linked Commentary: I. Kortekaas Krohn. J Eur Acad Dermatol Venereol 2021; 35: 781–782. https://doi.org/10.1111/jdv.17164. [ABSTRACT FROM AUTHOR]

Published
2021
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20. Novel insights into the epidemiology of epidermolysis bullosa (EB) from the Dutch EB Registry: EB more common than previously assumed?

Author

Baardman, R., Yenamandra, V.K., Duipmans, J.C., Pasmooij, A.M.G., Jonkman, M.F., Akker, P.C., and Bolling, M.C.

Subjects
EPIDERMOLYSIS bullosa, EPIDEMIOLOGY, MEDICAL care, GENETIC disorders, DIAGNOSIS, ELECTRON microscopy
Abstract

Background: Epidermolysis bullosa (EB) is a heterogeneous group of rare and incurable genetic disorders characterized by fragility of the skin and mucosae, resulting in blisters and erosions. Several epidemiological studies in other populations have been carried out, reporting varying and sometimes inconclusive figures, highlighting the need for standardized epidemiological analyses in well‐characterized cohorts. Objectives: To evaluate the epidemiological data on EB in the Netherlands, extracted from the molecularly well‐characterized cohort in the Dutch EB Registry. Methods: In this observational study all EB‐patients that were based in the Netherlands and captured in the Dutch EB Registry between 1988 and 2018 were included. The epidemiological outcomes were based on complete diagnostic data (clinical features, immunofluorescence, electron microscopy and mutation analysis), with longitudinal follow‐up. Results: A total of 464 EB‐patients (287 families) were included. The incidence and point‐prevalence of EB in the Netherlands were 41.3 per million live births and 22.4 per million population, respectively. EB Simplex (EBS), Junctional EB (JEB), Dystrophic EB (DEB) and Kindler EB were diagnosed in 45.7%, 18.8%, 34.7% and 0.9% of the EB‐patients, respectively, with an incidence and point‐prevalence of 17.5 and 11.9 (EBS), 9.3 and 2.1 (JEB), 14.1 and 8.3 (DEB), 0.5 and 0.2 (Kindler EB). In 90.5% of the EB‐patients the diagnosis was genetically confirmed. During the investigated time period 73 EB‐patients died, 72.6% of whom as a direct consequence of their EB. Conclusion: The epidemiological outcomes of EB in the Netherlands are high, attributed to a high detection rate in a well‐organized set‐up, indicating that EB might be more common than previously assumed. These epidemiological data help to understand the extensive need for (specialized) medical care of EB‐patients and is invaluable for the design and execution of therapeutic trials. This study emphasizes the importance of thorough reporting systems and registries worldwide. Linked Commentary: L. Bruckner‐Tuderman. J Eur Acad Dermatol Venereol 2021; 35: 783–784. https://doi.org/10.1111/jdv.17165. [ABSTRACT FROM AUTHOR]

Published
2021
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21. A 'late-but-fitter revertant cell' explains the high frequency of revertant mosaicism in epidermolysis bullosa

Author

Akker, P.C. (Peter) van den, Pasmooij, A.M.G. (Anna M. G.), Joenje, H. (Hans), Hofstra, R.M.W. (Robert), Meerman, G. (Gerard) te, Jonkman, M.F., Akker, P.C. (Peter) van den, Pasmooij, A.M.G. (Anna M. G.), Joenje, H. (Hans), Hofstra, R.M.W. (Robert), Meerman, G. (Gerard) te, and Jonkman, M.F.

Abstract

Revertant mosaicism, or “natural gene therapy”, is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present in all patients with a specific subtype of recessive epidermolysis bullosa. We therefore hypothesized that revertant mosaicism should be expected at least in all patients with recessive forms of epidermolysis bullosa. Naturally corrected, patient-own cells are of extreme interest for their promising therapeutic potential, and their presence in all patients would open exciting, new treatment perspectives to those patients. To test our hypothesis, we determined the probability that single nucleotide reversions occur in patients’ skin using a mathematical developmental model. According to our model, reverse mutations are expected to occur frequently (estimated 216x) in each patient’s skin. Reverse mutations should, however, occur early in embryogenesis to be able to drive the emergence of recognizable revertant patches, which is expected to occur in only one per ~10,000 patients. This underestimate, compared to our clinical observations, can be explained by the “late-but-fitter revertant cell” hypothesis: reverse mutations arise at later stages of development, but provide revertant cells with a selective growth advantage in vivo that drives the development of recognizable healthy skin patches. Our results can be extrapolated to any other organ with stem cell division numbers comparable to skin, which may offer novel future therapeutic options for other genetic conditions if these revertant cells can be identified and isolated.

Published
2018
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22. International Bullous Diseases Group: consensus on diagnostic criteria for epidermolysis bullosa acquisita

Author

Prost-Squarcioni, C., Caux, F., Schmidt, E., Jonkman, M.F., Vassileva, S., Kim, S.C., Iranzo, P., Daneshpazhooh, M., Terra, J., Bauer, J., Fairley, J., Hall, R., Hertl, M., Lehman, J.S., Marinovic, Branka, Patsatsi, A., Zillikens, D., Werth, V., Woodley, D.T., Murrell, D.F., and the International Bullous Diseases Group

Subjects
Epidermolysis bullosa acquisita, SERRATION PATTERN-ANALYSIS, Microscopy, Electron, Scanning Transmission, medicine.medical_specialty, epidermolysis bullosa acquisita, diagnostic criteria, consensus conference, Consensus, media_common.quotation_subject, education, Immunoblotting, MEDLINE, Fluorescent Antibody Technique, Enzyme-Linked Immunosorbent Assay, Dermatology, Disease, Review, Epidermolysis Bullosa Acquisita, VII COLLAGEN ANTIBODIES, Diagnosis, Differential, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Voting, medicine, Journal Article, Bullous disease, Humans, Intensive care medicine, Microscopy, Immunoelectron, health care economics and organizations, media_common, SPLIT-SKIN, LINKED-IMMUNOSORBENT-ASSAY, DIRECT IMMUNOFLUORESCENCE MICROSCOPY, business.industry, Clinical Laboratory Techniques, Consensus conference, OUTCOME MEASURES, medicine.disease, SCANNING CONFOCAL MICROSCOPY, CROHNS-DISEASE, Flow chart, 030220 oncology & carcinogenesis, Differential diagnosis, business, CHLORIDE-SEPARATED SKIN, LINEAR IGA DISEASE
Abstract

BACKGROUND: Epidermolysis bullosa acquisita (EBA) is a complex autoimmune bullous disease disease with variable clinical presentations and multiple possible diagnostic tests, making an international consensus on the diagnosis of EBA essential. ----- OBJECTIVES: To obtain an international consensus on the clinical and diagnostic criteria for EBA. ----- METHODS: The International Bullous Diseases Group (IBDG) met three times to discuss the clinical and diagnostic criteria for EBA. For the final voting exercise, 22 experts from 14 different countries voted on 50 different items. When > 30% disagreed with a proposal, a discussion was held and re-voting carried out. ----- RESULTS: In total, 48 of 50 proposals achieved consensus after discussion. This included nine diagnostic criteria, which are summarized in a flow chart. The IBDG was unable to determine one procedure that would be applicable worldwide. A limitation of the study is that differential diagnosis of bullous systemic lupus erythematosus has not been addressed. ----- CONCLUSIONS: This first international consensus conference established generally agreed-upon clinical and laboratory criteria defining the clinical classification of and diagnostic testing for EBA. Holding these voting exercises in person with the possibility of discussion prior to voting has advantages in reaching consensus over Delphi exercises with remote voting.

Published
2017

23. Keratinocyte footprint assay discriminates antilaminin‐332 pemphigoid from all other forms of pemphigoid diseases.

Author

Giurdanella, F., Nijenhuis, A.M., Diercks, G.F.H., Jonkman, M.F., and Pas, H.H.

Subjects
MUCOUS membranes, FOOTPRINTS, AUTOANTIBODIES, IMMUNOFLUORESCENCE
Abstract

Summary: Background: Antilaminin‐332 mucous membrane pemphigoid is a chronic severe pemphigoid disease characterized by autoantibodies to laminin‐332. At present no commercial assay is available to demonstrate antilaminin‐332 antibodies, and diagnosis relies on in‐house techniques with limited sensitivities. Objectives: In order to move, keratinocytes cultured in vitro secrete laminin‐332 to attach to the culture dish. In that way, they leave behind a unique footprint trail of laminin‐332. We aimed to develop a sensitive and specific laboratory assay to determine antilaminin‐332 autoantibodies in patient serum based on binding of patient IgG to these unique footprints. Methods: Normal human keratinocytes were grown on glass coverslips and incubated with patient or control serum for 1 h. The binding of IgG was then investigated by immunofluorescence. After validating the test for its ability to identify antilaminin‐332 autoantibodies it was converted into a daily available test based on binding of IgG to dried coverslips that can be stored frozen. The staining patterns of sera from patients with antilaminin‐332 pemphigoid were then compared with those of sera from patients with other autoimmune bullous diseases and normal human sera. Results: IgG of all antilaminin‐332 pemphigoid sera (n = 16) bound to laminin‐332 footprints, while all normal human controls (n = 55) were negative. From the sera of patients with other diseases (n = 72) four sera tested positive. The footprint assay was also positive for sera that were negative by salt‐split skin analysis, demonstrating that it is a very sensitive technique. Conclusions: The keratinocyte footprint assay is a fast and specific assay to confirm or rule out the presence of antilaminin‐332 autoantibodies. What's already known about this topic? Antilaminin‐332 mucous membrane pemphigoid is a severe form of pemphigoid, and patients may have an increased risk of malignancies.The diagnosis of antilaminin‐332 mucous membrane pemphigoid is complicated by the lack of specific commercial tests for antilaminin‐332 antibodies and can be confirmed only in specialized laboratories.Keratinocytes in culture need laminin‐332 for adhesion and migration and therefore deposit it on the bottom of the culture dish. What does this study add? The keratinocyte footprint assay detects antilaminin‐332 autoantibodies in patient serum using the native laminin‐332 produced by cultured keratinocytes. What is the translational message? The keratinocyte footprint assay is a fast and specific assay to confirm or rule out the presence of antilaminin‐332 autoantibodies. Linked Comment: Bilgic and Murrell. Br J Dermatol 2020; 182:270–271. Plain language summary available online [ABSTRACT FROM AUTHOR]

Published
2020
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27. 758 Autoantibodies in epidermolysis bullosa

Author

Gostynski, A., primary, Diercks, G.F.H., additional, Escamez, M., additional, Chandran, N., additional, Del Rio, M., additional, Meana, A., additional, Schmidt, E., additional, Ludwig, R., additional, Pas, H.H., additional, Jonkman, M.F., additional, and Pasmooij, A., additional

Published
2018
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36. Keratolysis exfoliativa (dyshidrosis lamellosa sicca): a distinct peeling entity

Author

Chang, Y.Y., Velden, J. van der, van der Wier, G., Kramer, D., Diercks, G.F., van Geel, M., Coenraads, P.J., Zeeuwen, P.L.J.M., Jonkman, M.F., MUMC+: MA Dermatologie (9), Dermatologie, RS: GROW - School for Oncology and Reproduction, Science in Healthy Ageing & healthcaRE (SHARE), Public Health Research (PHR), and Translational Immunology Groningen (TRIGR)

Subjects
VESICULAR HAND DERMATITIS, PROTEASE INHIBITOR, integumentary system, NETHERTON-SYNDROME, MUTATIONS, Pathogenesis and modulation of inflammation Infection and autoimmunity [N4i 1], DESQUAMATION, DEGRADATION, SKIN SYNDROME
Abstract

Item does not contain fulltext Background Keratolysis exfoliativa (KE), also known as dyshidrosis lamellosa sicca, is a palmoplantar dermatosis characterized by air-filled blisters and collarette desquamation. It has been regarded as a subtype of dyshidrotic eczema, a fungal infection or a dermatophytid reaction. KE may also resemble acral peeling skin syndrome and localized epidermolysis bullosa simplex. Although KE is a common disorder, it is a rarely reported and is an under-recognized dermatosis. Objectives To delineate the characteristic features of KE. Methods We investigated the clinical, immunohistopathological, ultrastructural and molecular features of KE. Patients were included from the clinical records. Additional diagnostic research consisted of mutation analysis of the candidate genes TGM5, KRT5, KRT14, FLG, SPINK6 and SPINK9. Results A total of 24 patients with KE were identified, six with familial and 18 with sporadic KE. Lesions consisted of air-filled blisters only on palmoplantar skin, followed by collarette and lamellar peeling. Both light microscopy and electron microscopy showed cleavage and partially degraded corneodesmosomes within the stratum corneum, whereas immunofluorescence microscopy showed normal expression of corneodesmosomal components. No mutations were found in TGM5, KRT5/14 and SPINK6/9. There was no clear link with atopy or with FLG mutations. Conclusions Our study suggests premature corneodesmolysis as the main pathological mechanism of this palmoplantar skin disorder. We conclude that KE appears to be a distinct peeling entity.

Published
2012

41. Pemphigus herpetiformis

Author

Franssen, M.E.J., Seijger, M.M.B., Mentink, L.F., Jong, M.C.J. de, and Jonkman, M.F.

Subjects
Pathogenesis and modulation of inflammation [N4i 1], Chronic inflammation and autoimmunity [UMCN 4.2]
Abstract

Item does not contain fulltext

Published
2005

42. Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: Best clinical practice guidelines.

Author

Murrell D.F., McGrath J.A., Morris S., Palisson F., Salas-Alanis J.C., Robson A., Pillay E.I., Mellerio J.E., Robertson S.J., Bernardis C., Diem A., Fine J.D., George R., Goldberg D., Halmos G.B., Harries M., Jonkman M.F., Lucky A., Martinez A.E., Maubec E., Murrell D.F., McGrath J.A., Morris S., Palisson F., Salas-Alanis J.C., Robson A., Pillay E.I., Mellerio J.E., Robertson S.J., Bernardis C., Diem A., Fine J.D., George R., Goldberg D., Halmos G.B., Harries M., Jonkman M.F., Lucky A., Martinez A.E., and Maubec E.

Abstract

This article summarizes recommendations reached following a systematic literature review and expert consensus on the diagnosis and management of cutaneous squamous cell carcinomas in people with epidermolysis bullosa. The guidelines are intended to help inform decision making by clinicians dealing with this complex complication of a devastating disease.Copyright © 2015 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.

Published
2016

43. Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

Author

Schuilenga-Hut, P.H., Scheffer, H., Pas, H.H., Nijenhuis, M., Buys, C.H.C.M., and Jonkman, M.F.

Subjects
integumentary system, Elucidation of hereditary disorders and their molecular diagnosis, Opheldering van erfelijke ziekten en hun moleculaire diagnostiek
Abstract

Item does not contain fulltext A patient with recessive epidermolysis bullosa simplex due to a previously described homozygous KRT14 1842-2A-->C splice-site mutation was re-examined, because we unexpectedly found signs of revertant mosaicism. The germline mutation resulted in different aberrant transcripts containing premature termination codons, all leading to truncated keratin 14 proteins. Basal keratinocytes in skin and in culture completely lacked keratin 14 and intermediate filaments. From this keratin 14-/- patient we started cultures from a new skin biopsy and here, we serendipitously found keratinocytes that spontaneously expressed keratin 14. This biopsy had been taken from an area of skin that was clinically affected, because blisters could simply be evoked by gentle rubbing. Immunofluorescence and electron microscopy of additional biopsies from this skin area revealed a mosaic expression of keratin 14 and reappearance of intermediate filaments in basal keratinocytes. Immunoblotting showed a revertant keratin 14 polypeptide with seemingly normal molecular weight. DNA analysis of exon 2 and its flanking intron borders showed no additional mutations in the genomic KRT14 sequence. Analysis of mRNA isolated from mosaic skin keratinocytes revealed an additional in-frame transcript (1844T-->G, 1845Delta6) that codes for an abnormal keratin 14 polypeptide with a two residue deletion and one amino acid change. The re-expression of a revertant, albeit abnormal, keratin 14 polypeptide, so-called partial revertant mosaicism, accounts for the antibody staining pattern and for the reappearance of intermediate filaments, which however, are semifunctional and not able to revert the clinical phenotype. The combination of a keratin 14-positive and a keratin 14-negative cell population in epidermis as well as in cultured keratinocytes suggests that the cellular reversion might be caused by an endogenous factor. We hypothesize that a second somatic modulating factor in the genome that affects the processing of the mutant KRT14 pre-mRNA may underlie this phenomenon.

Published
2002

49. Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa

Author

Akker, P.C. van den, Pasmooij, A.M., Meijer, R., Scheffer, H., Jonkman, M.F., Akker, P.C. van den, Pasmooij, A.M., Meijer, R., Scheffer, H., and Jonkman, M.F.

Abstract

Item does not contain fulltext, Dystrophic epidermolysis bullosa (DEB) is a heritable blistering disorder caused by mutations in the type VII collagen gene, COL7A1. Although revertant mosaicism is well known in DEB, 'forward' somatic mosaicism, in which a pathogenic mutation arises on a wild-type (WT) background, extending beyond the germ cells, has not been reported. It is therefore unknown what proportion of sporadic dominant DEB (DDEB) cases result from de novo mutations or somatic mosaic parents. In the clinically unaffected mother of a patient with DDEB pruriginosa due to the p.Gly2034Arg mutation, we identified the p.Gly2034Arg mutation in a proportion of lymphocytes and skin cells (mutational load 10-25%). Our data emphasize that forward mosaicism occurs in DDEB and highlight that mutation analysis should always be performed in the parents of sporadic DDEB patients to confirm the de novo status of the mutation. Ultimately, this will reveal the frequency of true de novo mutations and somatic mosaicism in parents, which has important implications for genetic counselling. Our data indicate that the threshold of mutant type VII procollagen to develop DDEB must be higher than 10-25%, which provides a rationale for therapeutic approaches aimed at increasing the WT : mutant type VII collagen ratio.

Published
2015

50. IgG4 subclass-specific responses to Staphylococcus aureus antigens shed new light on host-pathogen interaction

Author

Swierstra, J.W. (Jasper), Debets, S. (Stephanie), Vogel, C.P. (Corné) de, Lemmens-den Toom, N. (Nicole), Verkaik, N.J. (Nelianne), Ramdani-Bouguessa, N. (Nadjia), Jonkman, M.F., Dijl, J.M. (Jan Maarten), Fahal, A.H. (Ahmed), Belkum, A.F. (Alex) van, Wamel, W.J.B. (Willem) van, Swierstra, J.W. (Jasper), Debets, S. (Stephanie), Vogel, C.P. (Corné) de, Lemmens-den Toom, N. (Nicole), Verkaik, N.J. (Nelianne), Ramdani-Bouguessa, N. (Nadjia), Jonkman, M.F., Dijl, J.M. (Jan Maarten), Fahal, A.H. (Ahmed), Belkum, A.F. (Alex) van, and Wamel, W.J.B. (Willem) van

Abstract

IgG4 responses are considered indicative for long-term or repeated exposure to particular antigens. Therefore, studying IgG4-specific antibody responses against Staphylococcus aureus might generate new insights into the respective host-pathogen interactions and the microbial virulence factors involved. Using a bead-based flow cytometry assay, we determined total IgG (IgGt), IgG1, and IgG4 antibody responses to 40 different S. aureus virulence factors in sera from healthy persistent nasal carriers, healthy persistent noncarriers, and patients with various staphylococcal infections from three distinct countries. IgGt responses were detected against all tested antigens. These were mostly IgG1 responses. In contrast, IgG4 antibodies were detected to alphatoxin, chemotaxis inhibitory protein of S. aureus (CHIPS), exfoliative toxins A and B (ETA and-B), HlgB, IsdA, LukD,-E,-F, and-S, staphylococcal complement inhibitor (SCIN), staphylococcal enterotoxin C (SEC), staphylococcal superantigen-like proteins 1, 3, 5, and 9 (SSL1,-3,-5, and-9), and toxic shock syndrome toxin 1 (TSST-1) only. Large interpatient variability was observed, and the type of infection or geographical location did not reveal conserved patterns of response. As persistent S. aureus carriers trended toward IgG4 responses to a larger number of antigens than persistent noncarriers, we also investigated sera from patients with epidermolysis bullosa (EB), a genetic blistering disease associated with high S. aureus carriage rates. EB patients responded immunologically to significantly more antigens than noncarriers and trended toward even more responses than carriers. Altogether, we conclude that the IgG4 responses against a restricted panel of staphylococcal antigens consisting primarily of immune modulators and particular toxins indicate important roles for these virulence factors

Published
2015
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