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X-linked lymphoproliferative syndrome type 1

MIM.308240 Xq25

Monday 25 April 2005

XLP1, XLPD, Duncan disease, Purtilo syndrome; X-linked lymphoproliferative disease; familial fatal EBV infection; susceptibility to severe EBV infection; severe infectiosu mononucleosis

X-linked recessive lymphoproliferative disease.

Synopsis

- pharyngitis
- EBV-associated lymphoid granulomatosis
- hepatomegaly
- fulminant hepatitis
- liver failure and hepatic encephalopathy
-  splenomegaly
- meningitis
- encephalitis
- anemia
- thrombocytopenia
- pancytopenia
- atypical lymphocytosis - lymphadenopathy
- fulminant infectious mononucleosis
- large regions of necrosis in lymph nodes, thymus, bone marrow, and spleen
Synopsis
- EBV-associated ’fatal infectious mononucleosis’

Biology

- combined variable immunodeficiency involving B and T cells
- normal number of B cells
- Normal number of T cells
- Reduced CD4+/CD8+ ratio with CD8+ predominance
- Reduced natural killer cell activity

Etiology

- germline mutation in the SH2D1A gene that encodes an SH2 domain protein named SH2D1A or SAP (signaling lymphocyte activating molecule [SLAM]-associated protein)

See also

- X-linked lymphoproliferative syndromes (XLPs)

References

- X-linked lymphoproliferative syndromes: brothers or distant cousins? Filipovich AH, Zhang K, Snow AL, Marsh RA. Blood. 2010 Nov 4;116(18):3398-408. PMID: 20660790 (Free)

- XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH. Blood. 2010 Aug 19;116(7):1079-82. PMID: 20489057

- Engel P, Eck MJ, Terhorst C. The SAP and SLAM families in immune responses and X-linked lymphoproliferative disease. Nat Rev Immunol. 2003 Oct;3(10):813-21. PMID: 14523387