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Lymphoproliferative syndrome

Lymphoproliferative syndrome is characterized by a persistance of stimmulated lymphocytes as apoptosis of these cells is defective. The disorder is characterized by non-malignant accumulation of lymphocytes in various tissues which may induce secodary atoimmune reactions and cancer.

Systematic

Hereditary malign blood disorders
Acute myeloid leukemia
Juvenile myelomonocytic leukemia
Lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome type 2
CASP10
Lymphoproliferative syndrome 1
ITK
X-linked lymphoproliferative syndrome 1
SH2D1A
X-linked lymphoproliferative syndrome 2
XIAP
Myelodysplastic syndrome
Myelofibrosis
Non-Hodgkin lymphoma
Noonan syndrome-like disorder and juvenile myelomonocytic leukemia
Polycythemia vera
Somatic erythrocytosis
Susceptibility to acute myeloid leukemia
Susceptibility to myelodysplastic syndrome

References:

1.

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2.

Skare JC et al. (1989) Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq.

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3.

Skare JC et al. (1989) Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.

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4.

Harris A et al. (1988) X-linked lymphoproliferative disease: a karyotype analysis.

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5.

Skare JC et al. (1987) Mapping the X-linked lymphoproliferative syndrome.

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19.

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Grierson HL et al. (1993) Evaluation of families wherein a single male manifests a phenotype of X-linked lymphoproliferative disease (XLP).

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22.

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Dutz JP et al. (2001) Lymphocytic vasculitis in X-linked lymphoproliferative disease.

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Ma CS et al. (2006) Selective generation of functional somatically mutated IgM+CD27+, but not Ig isotype-switched, memory B cells in X-linked lymphoproliferative disease.

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29.

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30.

Rigaud S et al. (2006) XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

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31.

Worthey EA et al. (2011) Making a definitive diagnosis: successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.

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32.

Yang X et al. (2012) Clinical and genetic characteristics of XIAP deficiency in Japan.

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33.

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Nishida N et al. (2015) Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.

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36.

Coffey AJ et al. (1998) Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.

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37.

Sumegi J et al. () The molecular genetics of X-linked lymphoproliferative (Duncan's) disease.

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38.

Brandau O et al. (1999) Epstein-Barr virus-negative boys with non-Hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease (XLP).

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39.

Nichols KE et al. (2005) Regulation of NKT cell development by SAP, the protein defective in XLP.

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40.

Snow AL et al. (2009) Restimulation-induced apoptosis of T cells is impaired in patients with X-linked lymphoproliferative disease caused by SAP deficiency.

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41.

Wang J et al. (1999) Inherited human Caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.

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42.

Zhu S et al. (2006) Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome.

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43.

Ma CS et al. (2005) Impaired humoral immunity in X-linked lymphoproliferative disease is associated with defective IL-10 production by CD4+ T cells.

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44.

Zhao M et al. (2010) A novel XIAP mutation in a Japanese boy with recurrent pancytopenia and splenomegaly.

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45.

Pachlopnik Schmid J et al. (2011) Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

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46.

Yang X et al. (2015) A female patient with incomplete hemophagocytic lymphohistiocytosis caused by a heterozygous XIAP mutation associated with non-random X-chromosome inactivation skewed towards the wild-type XIAP allele.

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47.

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48.

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49.

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50.

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51.

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52.

Purtilo DT et al. (1977) Hematopathology and Pathogenesis of the X-linked recessive lymphoproliferative syndrome.

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53.

Skare J et al. (1992) First prenatal diagnosis of X-linked lymphoproliferative disease.

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54.

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55.

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Update: Aug. 14, 2020
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