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  1. Article ; Online: A teenager with blisters and crusts.

    Peitsch, Wiebke K / Zahn, Axel / Barkibin, Payman / Guski, Silja / Schmidt, Enno / Girschick, Hermann J

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2022  Volume 20, Issue 4, Page(s) 533–536

    MeSH term(s) Adolescent ; Blister/diagnosis ; Blister/etiology ; Humans ; Skin Abnormalities
    Language English
    Publishing date 2022-02-15
    Publishing country Germany
    Document type Case Reports
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14714
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    Zs.A 6148: Show issues Location:
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  2. Article ; Online: Ein Teenager mit Blasen und Krusten.

    Ludwig-Peitsch, Wiebke K / Zahn, Axel / Barkibin, Payman / Guski, Silja / Schmidt, Enno / Girschick, Hermann J

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2022  Volume 20, Issue 4, Page(s) 533–536

    Language English
    Publishing date 2022-04-19
    Publishing country Germany
    Document type Case Reports
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14714_g
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  3. Article ; Online: [No title information]

    Peitsch, Wiebke K / Zahn, Axel / Guski, Silja / Girschick, Hermann J

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2020  Volume 18, Issue 7, Page(s) 769–773

    Title translation Anuläre Erytheme bei einem 7-jährigen Jungen mit systemischem Inflammationssyndrom.
    Language German
    Publishing date 2020-07-26
    Publishing country Germany
    Document type Case Reports
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14052_g
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  4. Article ; Online: Annular erythemas in a 7-year-old boy with systemic inflammation syndrome.

    Peitsch, Wiebke K / Zahn, Axel / Guski, Silja / Girschick, Hermann J

    Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

    2020  Volume 18, Issue 7, Page(s) 769–772

    MeSH term(s) Child ; Diagnosis, Differential ; Erythema/pathology ; Humans ; Lichenoid Eruptions/diagnosis ; Lichenoid Eruptions/pathology ; Male ; Skin/pathology ; Skin Diseases, Genetic/pathology
    Language English
    Publishing date 2020-03-02
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 2093479-8
    ISSN 1610-0387 ; 1610-0379
    ISSN (online) 1610-0387
    ISSN 1610-0379
    DOI 10.1111/ddg.14052
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  5. Article ; Online: New Insights into Adult and Paediatric Chronic Non-bacterial Osteomyelitis CNO.

    Hedrich, Christian M / Morbach, Henner / Reiser, Christiane / Girschick, Hermann J

    Current rheumatology reports

    2020  Volume 22, Issue 9, Page(s) 52

    Abstract: Purpose of review: To describe in detail the clinical synopsis and pathophysiology of chronic non-bacterial osteomyelitis and SAPHO syndrome.: Recent findings: Chronic non-bacterial osteomyelitis (CNO) has been identified as a disease entity for ... ...

    Abstract Purpose of review: To describe in detail the clinical synopsis and pathophysiology of chronic non-bacterial osteomyelitis and SAPHO syndrome.
    Recent findings: Chronic non-bacterial osteomyelitis (CNO) has been identified as a disease entity for almost 50 years. This inflammatory bone disorder is characterized by osteolytic as well as hyperostotic/osteosclerotic lesions. It is chronic in nature, but it can present with episodic flairs and phases of remission, which have led to the denomination "chronic recurrent osteomyelitis", with its severe multifocal form "chronic recurrent multifocal osteomyelitis" (CRMO). For almost three decades, an infectious aetiology had been considered, since especially Propionibacterium acnes had been isolated from bone lesions of individual patients. However, this concept has been challenged since long-term antibiotic therapy did not alter the course of disease and modern microbiological techniques (including PCR) failed to confirm bone infection as an underlying cause. Over recent years, a profound dysregulation of cytokine expression profiles has been demonstrated in innate immune cells of CNO patients. A hallmark of monocytes from CNO patients is the failure to produce immune regulatory cytokines interleukin-10 (IL-10) and IL-19, which have been linked with genetic and epigenetic alterations. Subsequently, a significant upregulation of pro-inflammatory, NLRP3 inflammasome-dependent cytokines (IL-1β and TNF-α), has been demonstrated. The current knowledge on CNO, the underlying molecular pathophysiology, and modern imaging strategies are summarized; differential diagnoses, treatment options, outcome measures, as well as quality of life studies are discussed.
    MeSH term(s) Acquired Hyperostosis Syndrome/diagnosis ; Acquired Hyperostosis Syndrome/physiopathology ; Adult ; Child ; Chronic Disease ; Cytokines ; Epigenesis, Genetic ; Humans ; Inflammasomes ; Osteomyelitis/diagnosis ; Osteomyelitis/physiopathology ; Quality of Life
    Chemical Substances Cytokines ; Inflammasomes
    Language English
    Publishing date 2020-07-23
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2057357-1
    ISSN 1534-6307 ; 1523-3774
    ISSN (online) 1534-6307
    ISSN 1523-3774
    DOI 10.1007/s11926-020-00928-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5531: Show issues Location:
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  6. Article ; Online: Chronic non-bacterial osteomyelitis in childhood - a comprehensive review.

    Morbach, Henner / Girschick, Hermann J

    Current rheumatology reviews

    2014  Volume 9, Issue 1, Page(s) 17–21

    Abstract: The clinical picture of childhood chronic recurrent multifocal osteomyelitis (CRMO) is characterized by an aseptic chronic osteomyelitis, most often affecting the metaphyses of the long bones. Skin inflammation (palmoplantar pustulosis, psoriatic lesions, ...

    Abstract The clinical picture of childhood chronic recurrent multifocal osteomyelitis (CRMO) is characterized by an aseptic chronic osteomyelitis, most often affecting the metaphyses of the long bones. Skin inflammation (palmoplantar pustulosis, psoriatic lesions, acne) and inflammatory bowel disease may be associated with CRMO and therefore subsume this disease into the entity of SAPHO syndrome. Deregulated cytokine/chemokine expression in myeloid cells seems to drive chronic inflammation of the disease. NSAIDs may reduce pain, but additional second-line treatments (DMARDs, biologicals) are needed to treat persisting or progressing inflammation in a significant number of patients. The use of bisphosphonates may be a promising option in treating NSAID-refractory osteomyelitis in CRMO.
    Language English
    Publishing date 2014-09-03
    Publishing country United Arab Emirates
    Document type Journal Article
    ISSN 1875-6360
    ISSN (online) 1875-6360
    DOI 10.2174/1573397111309010006
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Effect of Clonally Expanded PD-1

    Fischer, Jonas / Dirks, Johannes / Klaussner, Julia / Haase, Gabriele / Holl-Wieden, Annette / Hofmann, Christine / Hackenberg, Stephan / Girschick, Hermann / Morbach, Henner

    Arthritis & rheumatology (Hoboken, N.J.)

    2021  Volume 74, Issue 1, Page(s) 150–162

    Abstract: Objective: Antinuclear antibody (ANA)-positive juvenile idiopathic arthritis (JIA) is characterized by synovial B cell hyperactivity, but the precise role of CD4+ T cells in promoting local B cell activation is unknown. This study was undertaken to ... ...

    Abstract Objective: Antinuclear antibody (ANA)-positive juvenile idiopathic arthritis (JIA) is characterized by synovial B cell hyperactivity, but the precise role of CD4+ T cells in promoting local B cell activation is unknown. This study was undertaken to determine the phenotype and function of synovial CD4+ T cells that promote aberrant B cell activation in JIA.
    Methods: Flow cytometry was performed to compare the phenotype and cytokine patterns of PD-1
    Results: Multidimensional flow cytometry revealed the expansion of interleukin-21 (IL-21) and interferon-γ (IFNγ)-coexpressing PD-1
    Conclusion: Clonally expanded CD4+ Tph cells accumulate in the joints of ANA-positive JIA patients and, in particular, promote CD21
    MeSH term(s) Antibodies, Antinuclear ; Arthritis, Juvenile/immunology ; B-Lymphocytes/immunology ; CD4-Positive T-Lymphocytes/immunology ; Cell Differentiation ; Humans ; Joints/cytology ; Lymphocyte Activation ; Programmed Cell Death 1 Receptor/immunology ; Receptors, CXCR5/immunology ; T-Lymphocytes, Helper-Inducer/immunology
    Chemical Substances Antibodies, Antinuclear ; CXCR5 protein, human ; PDCD1 protein, human ; Programmed Cell Death 1 Receptor ; Receptors, CXCR5
    Language English
    Publishing date 2021-12-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2756371-6
    ISSN 2326-5205 ; 2326-5191
    ISSN (online) 2326-5205
    ISSN 2326-5191
    DOI 10.1002/art.41913
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 24: Show issues Location:
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  8. Article ; Online: Long-term follow-up of children with chronic non-bacterial osteomyelitis-assessment of disease activity, risk factors, and outcome.

    Reiser, Christiane / Klotsche, Jens / Hospach, Toni / Heubner, Georg / Windschall, Daniel / Trauzeddel, Ralf / Groesch, Nadine / Niewerth, Martina / Minden, Kirsten / Girschick, Hermann

    Arthritis research & therapy

    2023  Volume 25, Issue 1, Page(s) 228

    Abstract: Introduction: Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory bone-disease of unknown origin. The National Pediatric Rheumatologic Database (NPRD) collects long-term data of children and adolescents with rheumatic diseases including CNO. ...

    Abstract Introduction: Chronic non-bacterial osteomyelitis (CNO) is an autoinflammatory bone-disease of unknown origin. The National Pediatric Rheumatologic Database (NPRD) collects long-term data of children and adolescents with rheumatic diseases including CNO.
    Objective: To assess characteristics, courses, and outcomes of CNO with onset in childhood and adolescence and to identify outcome predictors.
    Methods: From 2015 to 2021 patients with a confirmed diagnosis of CNO, who were registered in the NPRD during their first year of disease and at least one follow-up visit, were included in this analysis and observed for up to 4 years.
    Results: Four hundred patients with recent diagnosis of CNO were enrolled in the NRPD during the study period. After 4 years, patient data documentation was sufficient to be analyzed in 81 patients. A significant decline of clinical and radiological lesions is reported: at inclusion in the registry, the mean number of clinical lesions was 2.0 and 3.0 MRI lesions per patient. A significant decrease of manifestations during 4 years of follow-up (mean clinical lesions 0.5, p < 0.001; mean MRI lesions 0.9 (p < 0.001)) was documented. A significant improvement of physician global disease activity (PGDA), patient-reported overall well-being, and childhood health assessment questionnaire (C-HAQ) was documented. Therapeutically, an increase of disease-modifying anti-rheumatic drugs over the years can be stated, while bisphosphonates rather seem to be considered as a therapeutic DMARD option in the first years of disease. Only 5-7% of the patients had a severe disease course as defined by a PGDA >  = 4. Predictors associated with a severe disease course include the site of inflammation (pelvis, lower extremity, clavicle), increased erythrocyte sedimentation rate, and multifocal disease at first documentation. The previously published composite PedCNO disease activity score was analyzed revealing a PedCNO70 in 55% of the patients at 4YFU.
    Conclusion: An improvement of physician global disease activity (PGDA), patient reported overall well-being and imaging-defined disease activity measures was documented, suggesting that inactivity of CNO disease can be reached. PedCNO score and especially PGDA, MRI-defined lesions and in a number of patients also the C-HAQ seem to be reliable parameters for describing disease activity. The identification of risk factors at the beginning of the disease might influence treatment decision in the future.
    MeSH term(s) Adolescent ; Child ; Humans ; Follow-Up Studies ; Anti-Inflammatory Agents, Non-Steroidal/therapeutic use ; Osteomyelitis/diagnosis ; Osteomyelitis/drug therapy ; Osteomyelitis/microbiology ; Disease Progression ; Chronic Disease ; Antirheumatic Agents/therapeutic use ; Risk Factors
    Chemical Substances Anti-Inflammatory Agents, Non-Steroidal ; Antirheumatic Agents
    Language English
    Publishing date 2023-11-28
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2107602-9
    ISSN 1478-6362 ; 1478-6354
    ISSN (online) 1478-6362
    ISSN 1478-6354
    DOI 10.1186/s13075-023-03195-4
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 5490: Show issues Location:
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  9. Article ; Online: P2RX7 gene variants associate with altered inflammasome assembly and reduced pyroptosis in chronic nonbacterial osteomyelitis (CNO).

    Charras, Amandine / Hofmann, Sigrun R / Cox, Allison / Schulze, Felix / Russ, Susanne / Northey, Sarah / Liu, Xuan / Fang, Yongxiang / Haldenby, Sam / Hartmann, Hella / Bassuk, Alexander G / Carvalho, Ana / Sposito, Francesca / Grinstein, Lev / Rösen-Wolff, Angela / Meyer-Bahlburg, Almut / Beresford, Michael W / Lainka, Elke / Foell, Dirk /
    Wittkowski, Helmut / Girschick, Hermann J / Morbach, Henner / Uebe, Steffen / Hüffmeier, Ulrike / Ferguson, Polly J / Hedrich, Christian M

    Journal of autoimmunity

    2024  Volume 144, Page(s) 103183

    Abstract: Chronic nonbacterial osteomyelitis (CNO), an autoinflammatory bone disease primarily affecting children, can cause pain, hyperostosis and fractures, affecting quality-of-life and psychomotor development. This study investigated CNO-associated variants in ...

    Abstract Chronic nonbacterial osteomyelitis (CNO), an autoinflammatory bone disease primarily affecting children, can cause pain, hyperostosis and fractures, affecting quality-of-life and psychomotor development. This study investigated CNO-associated variants in P2RX7, encoding for the ATP-dependent trans-membrane K
    MeSH term(s) Child ; Humans ; Inflammasomes/genetics ; Inflammasomes/metabolism ; Pyroptosis ; Osteomyelitis/genetics ; Cytokines ; Potassium ; Receptors, Purinergic P2X7/genetics
    Chemical Substances Inflammasomes ; Cytokines ; Potassium (RWP5GA015D) ; P2RX7 protein, human ; Receptors, Purinergic P2X7
    Language English
    Publishing date 2024-02-23
    Publishing country England
    Document type Journal Article
    ZDB-ID 639452-8
    ISSN 1095-9157 ; 0896-8411
    ISSN (online) 1095-9157
    ISSN 0896-8411
    DOI 10.1016/j.jaut.2024.103183
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    Zs.A 2368: Show issues Location:
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  10. Article ; Online: A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting.

    Dirks, Johannes / Haase, Gabriele / Cantaert, Tineke / Frey, Lea / Klaas, Moritz / Rickert, Christian H / Girschick, Hermann / Meffre, Eric / Morbach, Henner

    Journal of clinical immunology

    2022  Volume 42, Issue 4, Page(s) 771–782

    Abstract: Hyper-IgM syndrome type 2 (HIGM2) is a B cell intrinsic primary immunodeficiency caused by mutations in AICDA encoding activation-induced cytidine deaminase (AID) which impair immunoglobulin class switch recombination (CSR) and somatic hypermutation (SHM) ...

    Abstract Hyper-IgM syndrome type 2 (HIGM2) is a B cell intrinsic primary immunodeficiency caused by mutations in AICDA encoding activation-induced cytidine deaminase (AID) which impair immunoglobulin class switch recombination (CSR) and somatic hypermutation (SHM). Whereas autosomal-recessive AID-deficiency (AR-AID) affects both CSR and SHM, the autosomal-dominant form (AD-AID) due to C-terminal heterozygous variants completely abolishes CSR but only partially affects SHM. AR-AID patients display enhanced germinal center (GC) reactions and autoimmune manifestations, which are not present in AD-AID, suggesting that SHM but not CSR regulates GC reactions and peripheral B cell tolerance. Herein, we describe two siblings with HIGM2 due to a novel homozygous AICDA mutation (c.428-1G > T) which disrupts the splice acceptor site of exon 4 and results in the sole expression of a truncated AID variant that lacks 10 highly conserved amino acids encoded by exon 4 (AID-ΔE4a). AID-ΔE4a patients suffered from defective CSR and enhanced GC reactions and were therefore indistinguishable from other AR-AID patients. However, the AID-ΔE4a variant only partially affected SHM as observed in AD-AID patients. In addition, AID-ΔE4a but not AD-AID patients revealed impaired targeting of mutational hotspot motives and distorted mutational patterns. Hence, qualitative defects in AID function and altered SHM rather than global decreased SHM activity may account for the disease phenotype in these patients.
    MeSH term(s) Cytidine Deaminase/genetics ; Cytidine Deaminase/metabolism ; Humans ; Hyper-IgM Immunodeficiency Syndrome/genetics ; Immunoglobulin Class Switching/genetics ; Mutation/genetics ; Phenotype ; Siblings ; Somatic Hypermutation, Immunoglobulin/genetics
    Chemical Substances AICDA (activation-induced cytidine deaminase) (EC 3.5.4.-) ; Cytidine Deaminase (EC 3.5.4.5)
    Language English
    Publishing date 2022-03-05
    Publishing country Netherlands
    Document type Case Reports ; Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 779361-3
    ISSN 1573-2592 ; 0271-9142
    ISSN (online) 1573-2592
    ISSN 0271-9142
    DOI 10.1007/s10875-022-01233-5
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