Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene

Gualco, Gabrıela; Berg, Anke van den; Koopmans, S.B.; Bacchi, Lívia Moscardi; Carneiro, Siderley S.; Ruiz, Everaldo; Vecchi, Ana Paula; Chan, John K.

doi:10.1016/j.humpath.2007.07.013

Cited by 7 publications

(3 citation statements)

References 19 publications

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“…In most cases, ALPS presents in childhood with lymphadenopathy, hypersplenism, and multilineage cytopenias; the laboratory hallmark of the disease is an elevatin of double-negative T cells [184]. Besides showing enlarged lymph nodes as part of the syndrome, in several patients the typical histopathological alterations of RDD were found in lymph nodes of ALPS patients [83,134]. Treatment is basically the same, requiring lymph node resection in case of massive lymphadenopathy, but conservative management in case of stable disease [83].…”

Section: Familial Rddmentioning

confidence: 99%

The Non-Langerhans Cell Histiocytoses (Rare Histiocytoses) – Clinical Aspects and Therapeutic Approaches

2016

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Rare histiocytoses, also called non-Langerhans cell histiocytoses, include all proliferative disorders of histiocytes, macrophages and dendritic cells that are not classified as Langerhans cell histiocytosis (LCH) and do not belong to the hemophagocytic lymphohistiocytosis (HLH) group of diseases. Thus, the term includes numerous benign or malignant, localized or systemic, adult or pediatric diseases. The classification of the histiocytic disorders has been revised several times. Here, we follow the classification recently published by Jean Francois Emile and an international expert panel, defining subgroups of histiocytoses described as L-Group, C-Group, M-Group, R-Group, and H-Group, which stands for LCH-like, cutaneous or mucocutaneous, malignant, Rosai-Dorfman-Disease like and HLH like. Some of the diseases have an excellent prognosis after resection or even disappear spontanously, others progress rapidly, requiring intensive systemic therapies. The malignant non-Langerhans cell histiocytoses in general have a poor prognosis, here, complex chemotherapy protocols are usually applied, with inconsistant results. An interesting perspective in non-malignant rare histiocytoses might be small molecular inhibitors, in particular BRAF inhibitors, since BRAF mutations have been found in some subtypes of non-Langerhans cell histiocytoses. By prospective and retrospective collection of experiences in a new registry (the "International Rare Histiocytic Disorders Registry", IRHDR), knowledge about these rare diseases might hopefully be improved.

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Section: Familial Rddmentioning

confidence: 99%

The Non-Langerhans Cell Histiocytoses (Rare Histiocytoses) – Clinical Aspects and Therapeutic Approaches

2016

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“…In ALPS, there can be marked expansion of lymphocytes in lymph nodes, in variable stages of immunoblastic transformation with very high cell proliferating index, presenting as a differential diagnostic difficulty, because histologically it reminds of malignant lymphoma [59].…”

Section: Nhl and Autoimmune Diseases With A Special Emphasis On Ssmentioning

confidence: 99%

Aspects of B‐Cell Non‐Hodgkin’s Lymphoma Development: A Transition from Immune‐Reactivity to Malignancy

et al. 2009

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The development of B‐cell lymphomas is an intricate interplay among various pathogenic factors, leading to a multi‐step process, encompassing various stages of B‐cell maturation. Besides genetic abnormalities, a variety of environmental and microbial factors, as well as disproportional immune‐regulatory processes lead to the malignant transformation. Yet, little is known about the exact chain of events, which lead from the physiological polyclonal B‐cell activation as a response to exogenous antigens through oligoclonality to a monoclonal, uncontrolled, malignant B‐cell proliferation. The aim of the present review was to summarize the potential harmful steps in the development of B‐cell lymphomas, according to conventional and novel theories, and to depict therapeutic regimens presently in use as well as to envision future drug developments, beneficial in the battle against this lymphoid malignancy.

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“…Предполагается, что в развитие данной патологии внесли свой вклад соматические мутации в генах KMT2D, PLCG2, выявленные в ткани опухоли пациентов с БРД [34], которые в случае герминальных поражений могли бы привести к первичному дефекту иммунной системы. Описания БРД непосредственно у пациентов с ПИДС относятся преимущественно к аутоиммунному лимфопролиферативному синдрому (АЛПС) [35][36][37][38].…”

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Rosay–Dorfman – like lymphadenopathy in a patient with Wiskott–Aldrich syndrome: diagnostic difficulties

Швец

Abramov

Хорева

et al. 2020

Voprosy gematologii/onkologii i immunopatologii v pediatrii

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Wiskott–Aldrich Syndrome (WAS) is a primary immunodeficiency (PID), characterized by varying severity of typical symptoms: thrombocytopenia, infections, immune dysregulation and cancer predisposition. Therefore any lymphoproliferative complications in WAS patients require lymph node biopsy. However, the interpretation of the histological picture is often complicated and requires the knowledge of the lymph node pathomorphology in patients with immunodeficiency. This article describes a rare combination of late diagnosis of WAS complicated by lymphadenopathy, which clinically and morphologically resembles Rosai–Dorfman disease (RDD). Parents gave their consent to use information about the child, including the fotos, in the article.

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Autoimmune lymphoproliferative syndrome in a patient with a new minimal deletion in the death domain of the FAS gene

Cited by 7 publications

References 19 publications

The Non-Langerhans Cell Histiocytoses (Rare Histiocytoses) – Clinical Aspects and Therapeutic Approaches

The Non-Langerhans Cell Histiocytoses (Rare Histiocytoses) – Clinical Aspects and Therapeutic Approaches

Aspects of B‐Cell Non‐Hodgkin’s Lymphoma Development: A Transition from Immune‐Reactivity to Malignancy

Rosay–Dorfman – like lymphadenopathy in a patient with Wiskott–Aldrich syndrome: diagnostic difficulties

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