TY  - JOUR
A1  - Hedrich, Christian M.
A1  - Morbach, Henner
A1  - Reiser, Christiane
A1  - Girschick, Hermann J.
T1  - New Insights into Adult and Paediatric Chronic Non-bacterial Osteomyelitis CNO
JF  - Current Rheumatology Reports
N2  - 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.

Summary
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.
KW  - chronic non-bacterial osteomyelitis
KW  - chronic recurrent multifocal osteomyelitis
KW  - bone autoinflammation
KW  - lymphoplasmacellular osteomyelitis
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-232636
SN  - 1523-3774
VL  - 22
ER  - 
TY  - JOUR
A1  - Froehlich, Matthias
A1  - Schwaneck, Eva C.
A1  - Gernert, Michael
A1  - Gadeholt, Ottar
A1  - Strunz, Patrick-Pascal
A1  - Morbach, Henner
A1  - Tony, Hans-Peter
A1  - Schmalzing, Marc
T1  - Autologous Stem Cell Transplantation in Common Variable Immunodeficiency: A Case of Successful Treatment of Severe Refractory Autoimmune Encephalitis
JF  - Frontiers in Immunology
N2  - Common variable immunodeficiency (CVID) is the most common primary immunodeficiency in adults. It is associated with hypogammaglobulinemia, recurring infections and autoimmune phenomena. Treatment includes immunoglobulin substitution and immunosuppressants. Autoimmune neurological manifestations of CVID are rare and occur predominantly as granulomatous disease. We report the case of a 35-year-old woman with CVID who developed autoimmune encephalitis as demonstrated by double cerebral biopsy. Infectious or malignant causes could be excluded. Despite intensive immunosuppressive therapy with common regimens no significant improvement could be achieved. Ultimately, an autologous hematopoietic stem cell transplantation (HSCT) was performed, resulting in lasting complete remission of the encephalitis. To our knowledge, this is the first report of refractory autoimmune phenomena in CVID treated by autologous HSCT.
KW  - common variable immunodeficiency
KW  - primary immunodeficiencies
KW  - autoimmunity
KW  - autologous stem cell transplantation
KW  - autoimmune encephalitis
Y1  - 2020
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-206972
SN  - 1664-3224
VL  - 11
IS  - 1317
ER  -