X-linked lymphoproliferative syndrome 2

Common Name(s)

X-linked lymphoproliferative syndrome 2

XLP2 is an X-linked primary immune deficiency with symptom onset usually in the first years of life, although later onset may occur. Features are compatible with immune dysregulation and include hemophagocytic lymphohistiocytosis (HLH), often associated with chronic Epstein-Barr virus (EBV) infection, splenomegaly, fever, colitis or inflammatory bowel disease (IBD), and recurrent infections. Laboratory abnormalities are variable, but can include hypogammaglobulinemia, cytopenias, and low levels of a particular subset of T cells known as NKT (or iNKT) cells. Functional studies show increased sensitivity of T cells to apoptosis (activation-induced cell death, AICD), impaired cytokine production, including of TNF-alpha (TNFA; {191160}), and general dysregulation of the immune pathway, such as increased levels of IL18 ({600953}). However, circulating levels of lymphocytes and NK cells are usually normal. Many patients die from fulminant HLH, and the only curative treatment is a hematopoietic stem cell transplant, although this procedure has been associated with a poor prognosis. Female mutation carriers are usually asymptomatic, although some female carriers may have less severe manifestations, which appears to depend on X-inactivation patterns (summary by {8:Yang et al., 2012}; review by {2:Latour and Aguilar, 2015}). {2:Latour and Aguilar (2015)} provided a detailed review of XIAP deficiency, including clinical features, molecular genetics, and pathophysiology. For a general phenotypic description and a discussion of genetic heterogeneity of X-linked lymphoproliferative syndrome, see XLP1 ({308240}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked lymphoproliferative syndrome 2" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked lymphoproliferative syndrome 2" returned 1 free, full-text research articles on human participants. First 3 results:

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
 

Author(s): Jana Pachlopnik Schmid, Danielle Canioni, Despina Moshous, Fabien Touzot, Nizar Mahlaoui, Fabian Hauck, Hirokazu Kanegane, Eduardo Lopez-Granados, Ester Mejstrikova, Isabelle Pellier, Lionel Galicier, Claire Galambrun, Vincent Barlogis, Pierre Bordigoni, Alain Fourmaintraux, Mohamed Hamidou, Alain Dabadie, Françoise Le Deist, Filomeen Haerynck, Marie Ouachée-Chardin, Pierre Rohrlich, Jean-Louis Stephan, Christelle Lenoir, Stéphanie Rigaud, Nathalie Lambert, Michèle Milili, Claudin Schiff, Helen Chapel, Capucine Picard, Geneviève de Saint Basile, Stéphane Blanche, Alain Fischer, Sylvain Latour

Journal: Blood. 2011 Feb;117(5):1522-9.

 

X-linked lymphoproliferative syndromes (XLP) are primary immunodeficiencies characterized by a particular vulnerability toward Epstein-Barr virus infection, frequently resulting in hemophagocytic lymphohistiocytosis (HLH). XLP type 1 (XLP-1) is caused by mutations in the gene SH2D1A ...

Last Updated: 31 Dec 1969

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The terms "X-linked lymphoproliferative syndrome 2" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Therapeutic Use of Tadekinig Alfa in NLRC4 Mutation and XIAP Deficiency
 

Status: Recruiting

Condition Summary: NLRC4-MAS; XIAP Deficiency

 

Last Updated: 15 Jun 2017

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