Lymphoproliferative syndrome

Sullivan JL et al. (1983) X-linked lymphoproliferative syndrome. Natural history of the immunodeficiency.

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

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.

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

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

Harris A et al. (1988) X-linked lymphoproliferative disease: linkage studies using DNA probes.

Loeffel S et al. (1985) Necrotizing lymphoid vasculitis in X-linked lymphoproliferative syndrome.

Hayoz D et al. (1988) X-linked lymphoproliferative syndrome. Identification of a large family in Switzerland.

Steinherz R et al. (1985) X-linked lymphoproliferative syndrome. A new kindred with variable phenotypic expression.

Bar RS et al. (1974) Fatal infectious mononucleosis in a family.

Hambleton G et al. (1969) Familial lymphoma.

Lyon MF et al. (1983) X-linked factor in acquired immunodeficiency syndrome?

Sullivan JL et al. (1980) Deficient natural killer cell activity in x-linked lymphoproliferative syndrome.

Purtilo DT et al. (1982) Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry.

Sanger WG et al. (1990) Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP)

None (1981) X-linked lymphoproliferative syndrome. An immunodeficiency disorder with acquired agammaglobulinemia, fatal infectious mononucleosis, or malignant lymphoma.

Levine PH et al. (1982) The American Burkitt's Lymphoma Registry: eight years' experience.

Hamilton JK et al. (1980) X-linked lymphoproliferative syndrome registry report.

Williams LL et al. (1993) Correction of Duncan's syndrome by allogeneic bone marrow transplantation.

Vowels MR et al. (1993) Brief report: correction of X-linked lymphoproliferative disease by transplantation of cord-blood stem cells.

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

Skare J et al. (1993) Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.

Seemayer TA et al. (1995) X-linked lymphoproliferative disease: twenty-five years after the discovery.

Arkwright PD et al. (1998) X linked lymphoproliferative disease in a United Kingdom family.

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

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.

Verhelst H et al. (2007) Limbic encephalitis as presentation of a SAP deficiency.

Booth C et al. (2011) X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

Sneller MC et al. (1997) Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

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

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

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

Latour S et al. (2015) XIAP deficiency syndrome in humans.

Dziadzio M et al. (2015) Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

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

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

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

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).

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

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

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

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

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

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

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).

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.

Purtilo DT et al. (1975) X-linked recessive progressive combined variable immunodeficiency (Duncan's disease).

None (1976) Pathogenesis and phenotypes of an X-linked recessive lymphoproliferative syndrome.

Purtilo DT et al. (1978) Epstein-Barr virus infections in the X-linked recessive lymphoproliferative syndrome.

Provisor AJ et al. (1975) Acquired agammaglobulinemia after a life-threatening illness with clinical and laboratory features of infectious mononucleosis in three related male children.

Purtilo DT et al. (1977) Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.

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

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

Mulley JC et al. (1992) X-linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male.

Purtilo DT et al. (1991) Methods of detection of new families with X-linked lymphoproliferative disease.