scholarly journals Profound systemic alteration of the immune phenotype and an immunoglobulin switch in Erdheim–Chester disease in a single-center of 78 patients

Haematologica ◽  
2021 ◽  
Author(s):  
Fleur Cohen Aubart ◽  
Lucie Poupel ◽  
Flora Saint-Charles ◽  
Frederic Charlotte ◽  
Youssef Arsafi ◽  
...  
Keyword(s):  
Immune Cells ◽  
B Lymphocyte ◽  
Immune Cell ◽  
Control Group ◽  
Single Center ◽  
Hematopoietic Stem ◽  
Immune Phenotype ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim–Chester disease (ECD) is a rare, systemic, non-Langerhans cell histiocytosis neoplasm, which is characterized by the infiltration of CD63+ CD1a- histiocytes in multiple tissues. The BRAFV600E mutation is frequently present in individuals with ECD and has been detected in hematopoietic stem cells and immune cells from the myeloid and systemic compartments. Immune cells and proinflammatory cytokines are present in lesions, suggesting ECD involves immune cell recruitment. Although a systemic cytokine Th-1-oriented signature has been reported in ECD, the immune cell network orchestrating the immune response in ECD has yet to be described. To address this question, the phenotypes of circulating leukocytes were investigated in a large, single-center cohort of 78 patients with ECD and compared with a group of 21 control individuals. Major perturbations in the abundance of systemic immune cells were detected in patients with ECD, with a decrease in circulating plasmacytoid, myeloid 1, and myeloid 2 dendritic cells, mostly in BRAFV600E carriers, in comparison with individuals in the control group. Similarly, a marked decrease in blood T-helper, cytotoxic, and B lymphocyte numbers was observed in patients with ECD, relative to the control group. Measurement of circulating immunoglobulin concentrations revealed an immunoglobulin G switch, from IgG1 to IgG4 subclasses, which are more frequently associated with the BRAF mutation. First-line therapies, including pegylated IFNlland vemurafenib, were able to correct most of these alterations. This study reports a profound disturbance in the systemic immune phenotype in patients with ECD, providing important new information and helping to understand the physiopathological mechanisms involved in this rare disease and in the therapeutic management of patients.

Erdheim-Chester Disease Presenting with Histiocytic Colitis and Cytokine Storm

2017 ◽  
Vol 26 (2) ◽  
pp. 183-187
Author(s):  
George P. Christophi ◽  
Yeshika Sharma ◽  
Quader Farhan ◽  
Umang Jain ◽  
Ted Walker ◽  
...  
Keyword(s):  
Periodic Acid ◽  
Poor Response ◽  
Rare Type ◽  
Periodic Acid Schiff ◽  
Hematopoietic Stem ◽  
Hemodynamic Compromise ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease ◽  
Segmental Colitis

Background: Non-Langerhans histiocytosis is a group of inflammatory lymphoproliferative disorders originating from non-clonal expansion of hematopoietic stem cells into cytokine-secreting dendritic cells or macrophages. Erdheim-Chester Disease (ECD) is a rare type of non-Langerhans cell histiocytosis characterized by tissue inflammation and injury caused by macrophage infiltration and histologic findings of foamy histiocytes. Often ECD involves the skeleton, retroperitoneum and the orbits. This is the first report documenting ECD manifesting as segmental colitis and causing cytokine-release syndrome.Case presentation: A 68-year old woman presented with persistent fever without infectious etiology and hematochezia. Endoscopy showed segmental colitis and pathology revealed infiltration of large foamy histiocytes CD3-/CD20-/CD68+/CD163+/S100- consistent with ECD. The patient was empirically treated with steroids but continued to have fever and developed progressive distributive shock.Conclusion: This case report describes the differential diagnosis of infectious and immune-mediated inflammatory and rheumatologic segmental colitis. Non-Langerhans histiocytosis and ECD are rare causes of gastrointestinal inflammation. Prompt diagnosis is imperative for the appropriate treatment to prevent hemodynamic compromise due to distributive shock or gastrointestinal bleeding. Importantly, gastrointestinal ECD might exhibit poor response to steroid treatment and other potential treatments including chemotherapy, and biologic treatments targeting IL-1 and TNF-alpha signaling should be considered.Abbreviations: AFB: acid-fast bacilli; ECD: Erdheim-Chester Disease; IBD: inflammatory bowel disease; PASD: periodic acid-Schiff with diastase; TB: tuberculosis

scholarly journals Pulmonary involvement in Erdheim-Chester disease: A single-center study of thirty-four patients and a review of the literature

2010 ◽  
Vol 62 (11) ◽  
pp. 3504-3512 ◽  
Author(s):  
Laurent Arnaud ◽  
Isabelle Pierre ◽  
Catherine Beigelman-Aubry ◽  
Frédérique Capron ◽  
Anne-Laure Brun ◽  
...  
Keyword(s):  
Pulmonary Involvement ◽  
Review Of The Literature ◽  
Single Center ◽  
Erdheim Chester Disease ◽  
Single Center Study ◽  
Erdheim Chester ◽  
Chester Disease ◽  
Center Study

Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients

Blood ◽  
2011 ◽  
Vol 117 (10) ◽  
pp. 2783-2790 ◽  
Author(s):  
Laurent Arnaud ◽  
Guy Gorochov ◽  
Frédéric Charlotte ◽  
Virginie Lvovschi ◽  
Christophe Parizot ◽  
...  
Keyword(s):  
Interferon Γ ◽  
Interferon Α ◽  
Single Center ◽  
Serum Samples ◽  
Individual Level ◽  
Erdheim Chester Disease ◽  
The Individual ◽  
The Impact ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Immunopathogenesis of Erdheim-Chester disease (ECD), a rare non–Langerhans cell histiocytosis, is poorly known. In previous studies, various cytokines were detected in ECD lesions, presumably orchestrating lesional histiocyte recruitment. Because ECD lesions are frequently associated with systemic symptoms, we postulated that underlying global immune perturbations might also be revealed. We quantitatively analyzed 23 cytokines in serum samples obtained from a large single-center cohort of 37 patients with ECD, and studied the impact of treatment on cytokine production. IL-6, IL-12, interferon-α (IFN-α), and monocyte chemotactic protein-1 (MCP-1) levels were significantly higher in untreated patients than in controls, whereas interferon-γ (IFN-γ) inducible protein 10, IL-12, MCP-1, and IL-1 receptor antagonist were found significantly increased in IFN-α–treated patients. A biomathematical approach was used to rationalize multiparameter data, to generate new hypotheses, and identify global control pathways. Interestingly, cytokine profiles proved to be particularly stable at the individual level, and an “ECD signature” further distinguished patients from controls, based on their production of IFN-α, IL-12, MCP-1, IL-4, and IL-7. Altogether, our data underline the systemic immune Th-1–oriented perturbation associated with this condition and provide clues for the choice of more focused therapeutic agents in this rare disease with noncodified therapeutic management.

scholarly journals Erdheim–Chester disease: a single center experience

2020 ◽  
Vol 42 ◽  
pp. 59-60
Author(s):  
E. Turan Erkek ◽  
N. Demir ◽  
S. Erdem ◽  
G. Ozkan ◽  
O. Arslan ◽  
...  
Keyword(s):  
Single Center ◽  
Single Center Experience ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

Case report of Erdheim-Chester disease in a female cardiac surgery patient

2011 ◽  
Vol 59 (S 01) ◽  
Author(s):  
HR Mahoozi ◽  
A Zittermann ◽  
K Hakim-Meibodi ◽  
J Gummert ◽  
N Mirow
Keyword(s):  
Cardiac Surgery ◽  
Case Report ◽  
Cardiac Surgery Patient ◽  
Erdheim Chester Disease ◽  
Surgery Patient ◽  
Erdheim Chester ◽  
Chester Disease

Erdheim-Chester Disease Involving Bilateral Lower Extremities

2000 ◽  
Vol 174 (3) ◽  
pp. 875-876 ◽  
Author(s):  
Tamio Kushihashi ◽  
Hirotsugu Munechika ◽  
Masayuki Sekimizu ◽  
Etsuo Fujimaki
Keyword(s):  
Lower Extremities ◽  
Erdheim Chester Disease ◽  
Erdheim Chester ◽  
Chester Disease

scholarly journals Isolated thoracic intramedullary Erdheim-Chester disease presenting with paraplegia: a case report and literature review

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Ikchan Jeon ◽  
Joon Hyuk Choi
Keyword(s):  
Surgical Resection ◽  
Fdg Pet ◽  
Rare Case ◽  
Systemic Disease ◽  
Mass Lesion ◽  
Erdheim Chester Disease ◽  
Pet Ct ◽  
Fdg Pet Ct ◽  
Erdheim Chester ◽  
Chester Disease

Abstract Background Erdheim-Chester disease (ECD) is a rare, idiopathic, systemic non-Langerhans cell histiocytosis involving long bone and visceral organs. Central nervous system (CNS) involvement is uncommon and most cases develop as a part of systemic disease. We present a rare case of variant ECD as an isolated intramedullary tumor. Case presentation A 75-year-old female patient with a medical history of diabetes and hypertension presented with sudden-onset flaccid paraparesis for 1 day. Neurological examination revealed grade 2–3 weakness in both legs, decreased deep tendon reflex, loss of anal tone, and numbness below T4. Leg weakness deteriorated to G1 before surgery. Preoperative magnetic resonance imaging (MRI) and 18F-fluorodeoxyglucose positron emission tomography/computed tomography (FDG-PET/CT) showed an intramedullary mass lesion at T2-T4 with no systemic lesion, which was heterogeneous enhancement pattern with cord swelling and edema from C7 to T6. Gross total removal was achieved for the white-gray-colored and soft-natured intramedullary mass lesion with an ill-defined boundary. Histological finding revealed benign histiocytic proliferation with foamy histiocytes and uniform nuclei. We concluded it as an isolated intramedullary ECD. The patient showed self-standing and walkable at 18-month with no evidence of recurrence and new lesion on spine MRI and whole-body FDG-PET/CT until sudden occurrence of unknown originated thoracic cord infarction. Conclusions We experienced an extremely rare case of isolated intramedullary ECD, which was controlled by surgical resection with no adjuvant therapy. Histological examination is the most important for final diagnosis, and careful serial follow-up after surgical resection is required to identify the recurrence and progression to systemic disease.

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