X-linked lymphoproliferative syndrome type 1

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)

• X-linked lymphoproliferative syndrome type 1 (XLP1)
• X-linked lymphoproliferative syndrome type 2 (XLP2)

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