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Article ; Online: Rituximab with alkylating agent in anti-myelin-associated glycoprotein neuropathy: A retrospective study of 26 cases.

Elessa, D / Grosjean, V / Lozeron, P / Harel, S / Royer, B / Forgeard, N / Thèves, F / Talbot, A / Malphettes, M / Bengoufa, D / Kubis, N / Arnulf, B

British journal of haematology

2024

Language	English
Publishing date	2024-03-18
Publishing country	England
Document type	Letter
ZDB-ID	80077-6
ISSN	1365-2141 ; 0007-1048
ISSN (online)	1365-2141
ISSN	0007-1048
DOI	10.1111/bjh.19412
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Uh III Zs.182: Show issues

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Article ; Online: Extensive cutaneous necrosis associated with cryofibrinogenemia.

Mirouse, Adrien / Malphettes, Marion / Battistella, Maxime / Valade, Sandrine

Intensive care medicine

2020 Volume 46, Issue 8, Page(s) 1618–1619

MeSH term(s)	Cryoglobulinemia/complications ; Female ; Fibrinogen ; Humans ; Middle Aged ; Necrosis ; Skin ; Skin Diseases
Chemical Substances	Fibrinogen (9001-32-5)
Language	English
Publishing date	2020-03-30
Publishing country	United States
Document type	Case Reports ; Journal Article
ZDB-ID	80387-x
ISSN	1432-1238 ; 0340-0964 ; 0342-4642 ; 0935-1701
ISSN (online)	1432-1238
ISSN	0340-0964 ; 0342-4642 ; 0935-1701
DOI	10.1007/s00134-020-05988-6
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Zs.A 1089: Show issues

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Article ; Online: Real-life use of mTOR inhibitor-based therapy in adults with autoimmune cytopenia highlights strong efficacy in relapsing/refractory multi-lineage autoimmune cytopenia.

Sorin, Boris / Fadlallah, Jehane / Garzaro, Margaux / Vigneron, Julien / Bertinchamp, Rémi / Boutboul, David / Oksenhendler, Eric / Fieschi, Claire / Malphettes, Marion / Galicier, Lionel

Annals of hematology

2023 Volume 102, Issue 8, Page(s) 2059–2068

Abstract: Data on mTOR inhibitors (mTORi) in autoimmune cytopenia (AIC), in adults are scarce. We retrospectively analysed 30 cases of refractory or relapsing AIC treated with an mTORi-based therapy. Eleven warm autoimmune hemolytic anaemia, 10 autoimmune ... ...

Abstract	Data on mTOR inhibitors (mTORi) in autoimmune cytopenia (AIC), in adults are scarce. We retrospectively analysed 30 cases of refractory or relapsing AIC treated with an mTORi-based therapy. Eleven warm autoimmune hemolytic anaemia, 10 autoimmune thrombocytopenia, 6 acquired pure red cell aplasia, 3 autoimmune neutropenia were included. Twenty were multilineage AIC (67%) and 21 were secondary AIC (70%). mTORi were associated with other therapies in 23 AIC (77%). Twenty-two AIC (73%) responded to mTORi-based therapy: 5 reached a partial response (17%) and 17 a complete response (57%). Survival without unfavourable outcome (failure, requirement of a new therapy, or death) was longer in multilineage AIC compared to single-lineage AIC (p = 0.049) with a median event-free survival of 48 versus 12 months. Median event-free survival was 48 months in secondary AIC and 33 months in primary AIC (p = 0.79). mTORi were discontinued in 4 patients (15%) for safety reasons and in 3 patients for patient's choice (12%). In conclusion, mTORi could be considered as an alternative or an add-on therapy in refractory or relapsing AIC in adult patients, especially in multilineage AIC.
MeSH term(s)	Humans ; Adult ; MTOR Inhibitors ; Retrospective Studies ; Neoplasm Recurrence, Local ; Anemia, Hemolytic, Autoimmune/drug therapy ; Thrombocytopenia/drug therapy
Chemical Substances	MTOR Inhibitors
Language	English
Publishing date	2023-06-29
Publishing country	Germany
Document type	Journal Article
ZDB-ID	1064950-5
ISSN	1432-0584 ; 0939-5555 ; 0945-8077
ISSN (online)	1432-0584
ISSN	0939-5555 ; 0945-8077
DOI	10.1007/s00277-023-05340-0
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Article ; Online: Campylobacter infection in 4 patients treated with ibrutinib.

Sorin, Boris / Vigneron, Julien / Fadlallah, Jehane / Mondesir, Johanna / Fieschi, Claire / Oksenhendler, Eric / Galicier, Lionel / Malphettes, Marion

European journal of clinical microbiology & infectious diseases : official publication of the European Society of Clinical Microbiology

2022 Volume 41, Issue 5, Page(s) 849–852

Abstract: Ibrutinib is a Bruton tyrosine kinase (BTK) inhibitor used in B-cell lymphoproliferative disorders. Patients with genetic BTK deficiency are susceptible to recurrent and severe Campylobacter infections. We report 4 patients treated with ibrutinib who ... ...

Abstract	Ibrutinib is a Bruton tyrosine kinase (BTK) inhibitor used in B-cell lymphoproliferative disorders. Patients with genetic BTK deficiency are susceptible to recurrent and severe Campylobacter infections. We report 4 patients treated with ibrutinib who developed chronic or extra-digestive campylobacteriosis resembling ibrutinib-related adverse events including diarrhea (n = 4), panniculitis (n = 2), and arthritis (n = 1). Microbiological explorations identified Campylobacter jejuni (n = 3) or Campylobacter coli (n = 1). All the patients completely recovered after a short course of oral antibiotic therapy. In patients treated with ibrutinib presenting with chronic diarrhea, dermatological, or rheumatological manifestations, campylobacteriosis should be ruled out before attributing the symptoms to ibrutinib and discuss its discontinuation.
MeSH term(s)	Adenine/analogs & derivatives ; Agammaglobulinaemia Tyrosine Kinase ; Campylobacter Infections/drug therapy ; Diarrhea/drug therapy ; Humans ; Leukemia, Lymphocytic, Chronic, B-Cell/chemically induced ; Leukemia, Lymphocytic, Chronic, B-Cell/drug therapy ; Leukemia, Lymphocytic, Chronic, B-Cell/genetics ; Piperidines ; Protein Kinase Inhibitors ; Pyrazoles/adverse effects ; Pyrimidines/adverse effects
Chemical Substances	Piperidines ; Protein Kinase Inhibitors ; Pyrazoles ; Pyrimidines ; ibrutinib (1X70OSD4VX) ; Agammaglobulinaemia Tyrosine Kinase (EC 2.7.10.2) ; Adenine (JAC85A2161)
Language	English
Publishing date	2022-03-18
Publishing country	Germany
Document type	Journal Article
ZDB-ID	603155-9
ISSN	1435-4373 ; 0934-9723 ; 0722-2211
ISSN (online)	1435-4373
ISSN	0934-9723 ; 0722-2211
DOI	10.1007/s10096-022-04433-4
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Zs.A 1732: Show issues

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Article ; Online: Study of the potential role of CASPASE-10 mutations in the development of autoimmune lymphoproliferative syndrome.

Consonni, Filippo / Moreno, Solange / Vinuales Colell, Blanca / Stolzenberg, Marie-Claude / Fernandes, Alicia / Parisot, Mélanie / Masson, Cécile / Neveux, Nathalie / Rosain, Jérémie / Bamberger, Sarah / Vigue, Marie-Gabrielle / Malphettes, Marion / Quartier, Pierre / Picard, Capucine / Rieux-Laucat, Frédéric / Magerus, Aude

Cell death & disease

2024 Volume 15, Issue 5, Page(s) 315

Abstract: Autoimmune lymphoproliferative syndrome (ALPS) is a primary disorder of lymphocyte homeostasis, leading to chronic lymphoproliferation, autoimmune cytopenia, and increased risk of lymphoma. The genetic landscape of ALPS includes mutations in FAS, FASLG, ... ...

Abstract	Autoimmune lymphoproliferative syndrome (ALPS) is a primary disorder of lymphocyte homeostasis, leading to chronic lymphoproliferation, autoimmune cytopenia, and increased risk of lymphoma. The genetic landscape of ALPS includes mutations in FAS, FASLG, and FADD, all associated with apoptosis deficiency, while the role of CASP10 defect in the disease remains debated. In this study, we aimed to assess the impact of CASP10 variants on ALPS pathogenesis. We benefit from thousands of genetic analysis datasets performed in our Institute's genetic platform to identify individuals carrying CASP10 variants previously suspected to be involved in ALPS outcome: p.C401LfsX15, p.V410I and p.Y446C, both at heterozygous and homozygous state. Clinical and laboratory features of the six included subjects were variable but not consistent with ALPS. Two individuals were healthy. Comprehensive analyses of CASP10 protein expression and FAS-mediated apoptosis were conducted and compared to healthy controls and ALPS patients with FAS mutations. Missense CASP10 variants (p.V410I and p.Y446C), which are common in the general population, did not disrupt CASP10 expression, nor FAS-mediated apoptosis. In contrast, homozygous p.C401LfsX15 CASP10 variant lead to a complete abolished CASP10 expression but had no impact on FAS-mediated apoptosis function. At heterozygous state, this p.C401LfsX15 variant lead to a reduced CASP10 protein levels but remained associated with a normal FAS-mediated apoptosis function. These findings demonstrate that CASPASE 10 is dispensable for FAS-mediated apoptosis. In consequences, CASP10 defect unlikely contribute to ALPS pathogenesis, since they did not result in an impairment of FAS-mediated apoptosis nor in clinical features of ALPS in human. Moreover, the absence of FAS expression up-regulation in subjects with CASP10 variants rule out any compensatory mechanisms possibly involved in the normal apoptosis function observed. In conclusion, this study challenges the notion that CASP10 variants contribute to the development of ALPS.
MeSH term(s)	Humans ; Caspase 10/genetics ; Caspase 10/metabolism ; Autoimmune Lymphoproliferative Syndrome/genetics ; Male ; Female ; Mutation/genetics ; Apoptosis/genetics ; fas Receptor/genetics ; fas Receptor/metabolism ; Adult ; Child ; Adolescent ; Middle Aged
Chemical Substances	Caspase 10 (EC 3.4.22.-) ; CASP10 protein, human (EC 3.4.22.63) ; fas Receptor ; FAS protein, human
Language	English
Publishing date	2024-05-04
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2541626-1
ISSN	2041-4889 ; 2041-4889
ISSN (online)	2041-4889
ISSN	2041-4889
DOI	10.1038/s41419-024-06679-6
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Article ; Online: Diagnostic testing for interstitial lung disease in common variable immunodeficiency: a systematic review.

Bintalib, Heba M / van de Ven, Annick / Jacob, Joseph / Davidsen, Jesper Rømhild / Fevang, Børre / Hanitsch, Leif G / Malphettes, Marion / van Montfrans, Joris / Maglione, Paul J / Milito, Cinzia / Routes, John / Warnatz, Klaus / Hurst, John R

Frontiers in immunology

2023 Volume 14, Page(s) 1190235

Abstract: Introduction: Common variable immunodeficiency related interstitial lung disease (CVID-ILD, also referred to as GLILD) is generally considered a manifestation of systemic immune dysregulation occurring in up to 20% of people with CVID. There is a lack ... ...

Abstract	Introduction: Common variable immunodeficiency related interstitial lung disease (CVID-ILD, also referred to as GLILD) is generally considered a manifestation of systemic immune dysregulation occurring in up to 20% of people with CVID. There is a lack of evidence-based guidelines for the diagnosis and management of CVID-ILD. Aim: To systematically review use of diagnostic tests for assessing patients with CVID for possible ILD, and to evaluate their utility and risks. Methods: EMBASE, MEDLINE, PubMed and Cochrane databases were searched. Papers reporting information on the diagnosis of ILD in patients with CVID were included. Results: 58 studies were included. Radiology was the investigation modality most commonly used. HRCT was the most reported test, as abnormal radiology often first raised suspicion of CVID-ILD. Lung biopsy was used in 42 (72%) of studies, and surgical lung biopsy had more conclusive results compared to trans-bronchial biopsy (TBB). Analysis of broncho-alveolar lavage was reported in 24 (41%) studies, primarily to exclude infection. Pulmonary function tests, most commonly gas transfer, were widely used. However, results varied from normal to severely impaired, typically with a restrictive pattern and reduced gas transfer. Conclusion: Consensus diagnostic criteria are urgently required to support accurate assessment and monitoring in CVID-ILD. ESID and the ERS e-GLILDnet CRC have initiated a diagnostic and management guideline through international collaboration. Systematic review registration: https://www.crd.york.ac.uk/prospero/, identifier CRD42022276337.
MeSH term(s)	Humans ; Common Variable Immunodeficiency/complications ; Common Variable Immunodeficiency/diagnosis ; Lung Diseases, Interstitial/diagnosis ; Lung Diseases, Interstitial/etiology ; Diagnostic Techniques and Procedures ; Biopsy ; Affect
Language	English
Publishing date	2023-05-08
Publishing country	Switzerland
Document type	Systematic Review ; Research Support, Non-U.S. Gov't
ZDB-ID	2606827-8
ISSN	1664-3224 ; 1664-3224
ISSN (online)	1664-3224
ISSN	1664-3224
DOI	10.3389/fimmu.2023.1190235
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Article ; Online: Long-term follow-up of an activated PI3K-δ syndrome 2 in patient presenting with an agammaglobulinemia phenotype.

Nguyen, Yann / Rosain, Jérémie / Aguilar, Claire / Picard, Capucine / Malphettes, Marion

Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology

2018 Volume 121, Issue 6, Page(s) 739–740.e1

MeSH term(s)	Agammaglobulinemia/pathology ; B-Lymphocytes/cytology ; Class I Phosphatidylinositol 3-Kinases/genetics ; Follow-Up Studies ; Humans ; Immunoglobulin A/blood ; Immunoglobulin G/blood ; Immunoglobulin M/blood ; Immunologic Deficiency Syndromes/drug therapy ; Immunologic Deficiency Syndromes/genetics ; Immunologic Deficiency Syndromes/pathology ; Lymphopenia/pathology ; Male ; Middle Aged ; Phosphatidylinositol 3-Kinases/genetics ; T-Lymphocytes/cytology
Chemical Substances	Immunoglobulin A ; Immunoglobulin G ; Immunoglobulin M ; PIK3R1 protein, human (EC 2.7.1.-) ; Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Class I Phosphatidylinositol 3-Kinases (EC 2.7.1.137)
Language	English
Publishing date	2018-08-04
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	1228189-x
ISSN	1534-4436 ; 0003-4738 ; 1081-1206
ISSN (online)	1534-4436
ISSN	0003-4738 ; 1081-1206
DOI	10.1016/j.anai.2018.07.043
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Article ; Online: Granulomatoses au cours des déficits immunitaires primitifs de l'adulte.

Pavic, M / Pasquet, F / Fieschi, C / Malphettes, M / Sève, P

La Revue de medecine interne

2013 Volume 34, Issue 3, Page(s) 154–158

Abstract: Primary immunodeficiency with granulomatosis in the adulthood mainly concern common variable immunodeficiency (CVID). Hypogammaglobulinemia in the adulthood is usually related to a secondary immunodeficiency. When a patient presents with the association ... ...

Title translation	Granulomatosis and primary immunodeficiency in adulthood.
Abstract	Primary immunodeficiency with granulomatosis in the adulthood mainly concern common variable immunodeficiency (CVID). Hypogammaglobulinemia in the adulthood is usually related to a secondary immunodeficiency. When a patient presents with the association of a hypogammaglobulinemia and a granulomatosis, an opportunistic infection must first be ruled out. For unknown reasons, about 10% of the patients affected by CVID also present with granulomatosis. Lesions usually affect the pulmonary tract or the mediastinum. Half of these patients are also affected by an autoimmune cytopenia. Treatment is not codified. Severe pulmonary complications can occur in about 50% of the patients.
MeSH term(s)	Adult ; Agammaglobulinemia/drug therapy ; Agammaglobulinemia/etiology ; Autoimmune Diseases/complications ; Autoimmune Diseases/drug therapy ; Common Variable Immunodeficiency/complications ; Common Variable Immunodeficiency/diagnosis ; Common Variable Immunodeficiency/drug therapy ; Glucocorticoids/therapeutic use ; Granuloma/complications ; Granuloma/drug therapy ; Humans ; Immunosuppressive Agents/therapeutic use
Chemical Substances	Glucocorticoids ; Immunosuppressive Agents
Language	French
Publishing date	2013-03
Publishing country	France
Document type	English Abstract ; Journal Article ; Review
ZDB-ID	604679-4
ISSN	1768-3122 ; 0248-8663
ISSN (online)	1768-3122
ISSN	0248-8663
DOI	10.1016/j.revmed.2012.02.005
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Zs.B 2451: Show issues

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Article ; Online: Atteintes respiratoires au cours du déficit immunitaire commun variable de l'adulte.

Hadjadj, J / Malphettes, M / Fieschi, C / Oksenhendler, E / Tazi, A / Bergeron, A

Revue des maladies respiratoires

2015 Volume 32, Issue 10, Page(s) 991–1001

Abstract: Introduction: Common variable immunodeficiency (CVID) is characterized by a defect in antibody production and may be complicated by infectious or non-infectious respiratory disease.: Background: In addition to recurrent infectious complications, ... ...

Title translation	Lung disease in adult common variable immunodeficiency.
Abstract	Introduction: Common variable immunodeficiency (CVID) is characterized by a defect in antibody production and may be complicated by infectious or non-infectious respiratory disease. Background: In addition to recurrent infectious complications, mainly due to encapsulated bacteria, CVID may be complicated by diffuse infiltrative, non-infectious lung disease. The latter may be related to granulomatosis, lymphoid interstitial pneumonia, follicular bronchiolitis, follicular nodular hyperplasia, organizing pneumonia or lymphoma. Different lymphoid histological lesions can co-exist and form a new entity called GLILD (granulomatous lymphocytic interstitial lung disease), which is associated with a poor prognosis. Replacement of immunoglobulins significantly decreases the frequency and severity of infections but has no impact on the non-infectious complications. Outlook: Studies are needed to determine the modalities of follow-up and better understand the long-term progress of GLILD. These studies should improve the management of GLILD in the context of immunosuppressive treatments, which increase the risk of infection in CVID. Conclusion: The identification of GLILD, which reflects a variable histological spectrum, rather than a well-defined entity, necessitates revising the approach to diffuse infiltrative lung diseases in CVID.
MeSH term(s)	Adult ; Common Variable Immunodeficiency/complications ; Humans ; Lung Diseases/diagnosis ; Lung Diseases/etiology ; Lung Diseases, Interstitial/etiology
Language	French
Publishing date	2015-12
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	605743-3
ISSN	1776-2588 ; 0301-0279 ; 0761-8425
ISSN (online)	1776-2588
ISSN	0301-0279 ; 0761-8425
DOI	10.1016/j.rmr.2015.05.005
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Zs.A 1945: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Romidepsin is an effective and well-tolerated therapy in CD3

Baulier, Gildas / Asli, Bouchra / Galicier, Lionel / Fieschi, Claire / Brice, Pauline / Malphettes, Marion

The journal of allergy and clinical immunology. In practice

2019 Volume 7, Issue 8, Page(s) 2885–2887.e1

MeSH term(s)	Adult ; CD3 Complex ; CD4-Positive T-Lymphocytes ; Depsipeptides/administration & dosage ; Depsipeptides/adverse effects ; Depsipeptides/therapeutic use ; Humans ; Hypereosinophilic Syndrome/drug therapy ; Hypereosinophilic Syndrome/immunology ; Lymphoma, T-Cell/drug therapy ; Lymphoma, T-Cell/immunology ; Male ; Phenotype
Chemical Substances	CD3 Complex ; Depsipeptides ; romidepsin (CX3T89XQBK)
Language	English
Publishing date	2019-05-10
Publishing country	United States
Document type	Case Reports ; Letter
ZDB-ID	2843237-X
ISSN	2213-2201 ; 2213-2198
ISSN (online)	2213-2201
ISSN	2213-2198
DOI	10.1016/j.jaip.2019.04.039
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