Présentation atypique d’un déficit immun commun variable. À propos d’un cas

Charry, F. de; Tonetti, A. Peterschmitt; Charry, C. de; Baseggio, Lucile; Pasquet, F.; Khenifer, S.; Rassat, R.; Pavic, Michel

doi:10.1016/j.revmed.2014.02.003

Cited by 3 publications

(2 citation statements)

References 17 publications

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“…We diagnosed a T-LGLL in two patients and a PTCL, NOS in an additional patient. In CVID patients, increased numbers of polyclonal LGLs associated with neutropenia have been reported [ 21 ], and in one case, granulomatous lymphocytic interstitial lung disease was detected [ 22 ]. Potentially triggered by a chronic persistent stimulus, T-LGLL carries somatic STAT3 mutations in about 30–40% of cases and is often associated with autoimmune disorders [ 16 , 46 ].…”

Section: Discussionmentioning

confidence: 99%

“…Among the defined entities, the literature describes a predominance of extranodal marginal zone lymphoma (ENMZL) arising in the mucosa-associated lymphoid tissue (MALT) of the gastrointestinal tract, the salivary glands or in the bronchus-associated lymphoid tissue [ 4 , 5 ]. But also classic Hodgkin lymphoma (CHL), diffuse large B cell lymphoma (DLBCL), and rare T cell neoplasms such as T cell large granular lymphocytic leukemia (T-LGLL) have been described [ 1 , 2 , 8 , 20 – 22 ].…”

Section: Introductionmentioning

confidence: 99%

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Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation

et al. 2021

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Purpose Common variable immune deficiency (CVID) confers an increased risk of lymphoid neoplasms, but reports describing the precise WHO specification of the lymphoma subtypes and their immunological environment are lacking. We therefore classified lymphomas—occurring in a cohort of 21 adult CVID patients during a 17-year period at our center—according to the 2016 WHO classification and characterized the local and systemic immunological context Results The median time between the onset of CVID and lymphoma was 14 years. Patients showed a high prevalence of preceding immune dysregulation: lymphadenopathy (n = 13, 62%), splenomegaly (n = 18, 86%), autoimmune cytopenia (n = 14, 67%), and gastrointestinal involvement (n = 15, 71%). The entities comprised extranodal marginal zone lymphoma (n = 6), diffuse large B cell lymphoma (n = 7), plasmablastic lymphoma (n = 1), classic Hodgkin lymphoma (n = 4, including three cases with germline CTLA4 mutations), T cell large granular lymphocytic leukemia (n = 2), and peripheral T cell lymphoma, not otherwise specified (n = 1), but no follicular lymphoma. An Epstein-Barr virus association was documented in eight of 16 investigated lymphomas. High expression of PDL1 by tumor cells in five and of PDL1 and PD1 by tumor-infiltrating macrophages and T cells in 12 of 12 investigated lymphomas suggested a tolerogenic immunological tumor environment. Conclusion In summary, a diverse combination of specific factors like genetic background, chronic immune activation, viral trigger, and impaired immune surveillance contributes to the observed spectrum of lymphomas in CVID. In the future, targeted therapies, e.g., PD1/PDL1 inhibitors in CVID associated lymphomas with a tolerogenic environment may improve therapy outcome.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation

et al. 2021

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Cross-talk between immune cells and tumor cells in non-Hodgkin lymphomas arising in common variable immunodeficiency

Sharma,

Goyal,

Chawla

et al. 2024

Expert Review of Clinical Immunology

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Characteristics of large granular lymphocyte leukemia associated with variable common immunodeficiency disorders: A study of 12 cases

Gueuning,

Lazaro,

Dupuy

et al. 2024

European J of Haematology

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ObjectivesCommon Variable Immunodeficiency Disorders (CVID) and Large Granular Lymphocytes leukemia (LGLL) exhibit diverse clinical manifestations including infections, dysimmunity, and lymphoproliferation. Recent decades have seen the discovery of new genes in the lymphopoiesis pathway, such as JAK–STAT. This case series supplemented by a literature review aims to describe clinical and biological characteristics of patients with both CIVD and LGLL.MethodologyPatients were included through a call for comments to French and Belgian centers and through a literature review via PubMed. Clinical characteristics were compared to two large French cohort involving CVID and LGLL patients.ResultsTwelve patients were included. In all cases, CVID precedes LLGL (median diagnosis delay for LLGL was 7 years). Most cases presented with splenomegaly and autoimmune cytopenia. Ten out of 12 patients underwent splenectomy during follow up.ConclusionsPatients with LGLL and CVID differ from patients without immune deficiency in term of clinical presentation and prognosis. We suggest CVID may act as a trigger of LGL lymphocytosis, due to endogenous and exogenous antigenic pressure leading to the selection of a dominant LGL clone and stimulation of the JAK–STAT pathway. The role of splenomegaly and splenectomy in LGLL onset warrant further investigation in future studies.

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Présentation atypique d’un déficit immun commun variable. À propos d’un cas

Cited by 3 publications

References 17 publications

Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation

Altered Spectrum of Lymphoid Neoplasms in a Single-Center Cohort of Common Variable Immunodeficiency with Immune Dysregulation

Cross-talk between immune cells and tumor cells in non-Hodgkin lymphomas arising in common variable immunodeficiency

Characteristics of large granular lymphocyte leukemia associated with variable common immunodeficiency disorders: A study of 12 cases

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