X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis

Kanegane, Hirokazu; Ito, Yoshikiyo; Ohshima, Koichi; Shichijo, Takeshi; K, Tomimasu; Nomura, Keiko; Futatani, Takeshi; Sumazaki, Ryo; Miyawaki, Toshio

doi:10.1002/ajh.20261

Cited by 37 publications

(29 citation statements)

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“…8 Previous studies have shown that SH2D1A protein expression is undetectable in patients with confirmed XLP. 9,18 The diagnosis of XLP is difficult given its clinical heterogeneity and the lack of a rapid diagnostic laboratory test, particularly with males manifesting a phenotype consistent with XLP but without a family history. Recent improvement of the prognosis of XLP by transplantation of hematopoietic stem cells makes early diagnosis more important.…”

Section: Discussionmentioning

confidence: 99%

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Tabata

Villanueva

Lee

et al. 2005

Blood

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Section: Discussionmentioning

confidence: 99%

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Tabata

Villanueva

Lee

et al. 2005

Blood

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“…The potential for developing multiple autoimmune as well as infiltrative lymphoproliferative disorders involving different organ systems, such as uveitis, hepatitis, glomerulonephritis, infiltrative pulmonary lesions, and encephalitis and myelitis (manifesting as aseptic meningitis) in some patients with ALPS is being recognized on their long-term follow-up over many years (Table 1). [15][16][17][18][19] The most common laboratory findings include the presence of cytopenias secondary to autoimmune destruction or splenic sequestration and polyclonal hypergammaglobulinemia. Anemia is nearly universal because of a combination of factors, including hypersplenism, autoimmunity, and iron deficiency.…”

Section: Clinical and Laboratory Featuresmentioning

confidence: 99%

How I treat autoimmune lymphoproliferative syndrome

Rao

Oliveira²

2011

Blood

166

153

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Autoimmune lymphoproliferative syndrome (ALPS) represents a failure of apoptotic mechanisms to maintain lymphocyte homeostasis, permitting accumulation of lymphoid mass and persistence of autoreactive cells that often manifest in childhood with chronic nonmalignant lymphadenopathy, hepatosplenomegaly, and recurring multilineage cytopenias. Cytopenias in these patients can be the result of splenic sequestration as well as autoimmune complications manifesting as autoimmune hemolytic anemia, immune-mediated thrombocytopenia, and autoimmune neutropenia. More than 300 families with hereditary ALPS have now been described; nearly 500 patients from these families have been studied and followed worldwide over the last 20 years by our colleagues and ourselves. Some of these patients with FAS mutations affecting the intracellular portion of the FAS protein also have an increased risk of B-cell lymphoma. The best approaches to diagnosis, followup, and management of ALPS, its associated cytopenias, and other complications resulting from infiltrative lymphoproliferation and autoimmunity are presented. This trial was registered at www.clinicaltrial.gov as #NCT00001350. (Blood. 2011;118(22): 5741-5751) IntroductionAutoimmunity results from failure of self-tolerance, which can be further divided into central and peripheral tolerance. Central tolerance is fostered by apoptosis through elimination of autoreactive lymphocytes in generative lymphoid organs (the bone marrow and thymus), whereas mechanisms of peripheral tolerance include anergy, deletion by apoptosis, and suppression by regulatory T cells to avoid autoimmunity and tissue damage. 1 Apoptosis, the intrinsic program of cell death, is triggered by receptor-ligand interactions at the cell surface (the extrinsic pathway) or by the activation of mitochondrial proteins (the intrinsic pathway), leading to processing and activation of caspases and their downstream targets. Lymphocyte apoptosis mediated by the cell surface receptor FAS plays a pivotal role in lymphocyte homeostasis. FAS (also termed CD95/APO1) is a member of the tumor necrosis factor receptor superfamily of proteins that directly trigger apoptosis to maintain lymphocyte homeostasis and peripheral immune tolerance and prevent autoimmunity. 2,3 It is a membrane-bound molecule that is highly expressed, not only on activated B and T lymphocytes but also present in other cells, such as hepatocytes. FAS is present on the cell surface as a preformed trimer. 4 Its binding with FAS ligand leads to conformational changes on the intracellular portion of FAS protein triggering rapid recruitment of the death domain of the adaptor protein FADD (Fas-associated death domain) to the homologous death domain in the cytoplasmic tail of FAS. This is followed by the recruitment of procaspases 8 or 10 through the interaction of their death-effecter domains with the amino termini of FADD. The resulting Fas/FADD/caspase complex is termed the death-inducing signaling complex that incites a further cascade of caspase activation culminati...

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“…The word syndrome refers to the many common symptoms shared by ALPS patients. The word lymphoproliferative describes the unusually large numbers of white blood cells (called lymphocytes) stored in the lymph nodes and spleens of people with ALPS (8).…”

Section: Introductionmentioning

confidence: 99%

Autoimmune Lymphoproliferative Syndrome

Cojocaru¹,

Cojocaru²,

Siloşi³

et al. 2010

Journal of Medical Biochemistry

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Autoimmune Lymphoproliferative SyndromeThe autoimmune lymphoproliferative syndrome (ALPS) is a rare disease. ALPS is an inherited condition that affects both sexes. ALPS is not cancer, it is not infectious, and its incidence has not yet been estimated. ALPS generally does not lead to death and most individuals with ALPS are able to live normal lives. ALPS is a disorder associated with abnormal lymphocyte apoptosis, lymphoproliferation, and autoimmunity. Serologic testing is critical in the evaluation of these individuals. Lymphoproliferation in ALPS patients is generally benign, but they are at increased risk for the development of Hodgkin's and non-Hodgkin's lymphoma. It is characterized by massive lymphoadenopathy, splenomegaly, autoimmunity including episodes of immune hemolityc anemia, thrombocytopenia, and neutropenia. ALPS patients have lymphocytosis and a number of lymphocyte abnormalities, including the marked expansion of T lymphocytes that express alpha/beta T-cell receptors, but neither CD4 nor CD8 surface markers (TCR alpha/beta+; CD4-; CD8- cells).

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X-linked lymphoproliferative syndrome presenting with systemic lymphocytic vasculitis

Cited by 37 publications

References 16 publications

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members

How I treat autoimmune lymphoproliferative syndrome

Autoimmune Lymphoproliferative Syndrome

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