Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages

JF Emile, O Abla, S Fraitag, A Horne… - Blood, The Journal …, 2016 - ashpublications.org
The histiocytoses are rare disorders characterized by the accumulation of macrophage,
dendritic cell, or monocyte-derived cells in various tissues and organs of children and adults …

Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease

O Abla, E Jacobsen, J Picarsic… - Blood, The Journal …, 2018 - ashpublications.org
Abstract Rosai-Dorfman-Destombes disease (RDD) is a rare non–Langerhans cell
histiocytosis characterized by accumulation of activated histiocytes within affected tissues …

[HTML][HTML] Congenital neutropenia: diagnosis, molecular bases and patient management

J Donadieu, O Fenneteau, B Beaupain… - Orphanet journal of rare …, 2011 - Springer
The term congenital neutropenia encompasses a family of neutropenic disorders, both
permanent and intermittent, severe (< 0.5 G/l) or mild (between 0.5-1.5 G/l), which may also …

B cell–helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen

I Puga, M Cols, CM Barra, B He, L Cassis… - Nature …, 2012 - nature.com
Neutrophils use immunoglobulins to clear antigen, but their role in immunoglobulin
production is unknown. Here we identified neutrophils around the marginal zone (MZ) of the …

High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses

J Haroche, F Charlotte, L Arnaud… - Blood, The Journal …, 2012 - ashpublications.org
Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis.
BRAF mutations have been observed in Langerhans cell histiocytosis (LCH). We …

Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E …

J Haroche, F Cohen-Aubart, JF Emile… - Blood, The Journal …, 2013 - ashpublications.org
Histiocytoses are rare disorders of unknown origin with highly heterogeneous prognosis.
BRAFV600E gain-of-function mutations have been observed in 57% of cases of Langerhans …

Langerhans cell histiocytosis (LCH): guidelines for diagnosis, clinical work‐up, and treatment for patients till the age of 18 years

R Haupt, M Minkov, I Astigarraga… - Pediatric blood & …, 2013 - Wiley Online Library
These guidelines for the management of patients up to 18 years with Langerhans cell
histiocytosis (LCH) have been set up by a group of experts involved in the Euro Histio Net …

Diverse and targetable kinase alterations drive histiocytic neoplasms

EL Diamond, BH Durham, J Haroche, Z Yao, J Ma… - Cancer discovery, 2016 - AACR
Histiocytic neoplasms are clonal, hematopoietic disorders characterized by an accumulation
of abnormal, monocyte-derived dendritic cells or macrophages in Langerhans cell …

The European Society for Immunodeficiencies (ESID) registry working definitions for the clinical diagnosis of inborn errors of immunity

MG Seidel, G Kindle, B Gathmann, I Quinti… - The Journal of Allergy …, 2019 - Elsevier
Patient registries are instrumental for clinical research in rare diseases. They help to achieve
a sufficient sample size for epidemiological and clinical research and to assess the …

Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies

A Fischer, J Provot, JP Jais, A Alcais… - Journal of Allergy and …, 2017 - Elsevier
Background Primary immunodeficiencies (PIDs) are inherited diseases associated with a
considerable increase in susceptibility to infections. It is known that PIDs can also …