[MIM 300 635, 308 240]

(Duncan disease, XLP)

Prevalence: < 1.106. X-linked recessive transmission of a mutation of the SH2D1A gene (Xp25) coding for the SAP protein (regulation of the activation of T lymphocytes) (XLP1 )

Lymphoproliferative syndrome due to a hereditary immunodeficiency resulting in an inappropriate response to EBV infection, i.e.:

-           fulminant infectious mononucleosis

-                  macrophagic activation syndrome

-           lymphohistiocytic hemophagocytosis (see this term)

-                 lymphoma

-               sometimes aplastic anemia, lymphocytic vasculitis

Another form of X-linked lymphoproliferative syndrome is due to a mutation of the gene coding the XIAP (Xp25) (X-linked inhibitor of apoptosis) or BIRC4 (XLP2 ) protein: :

-           onset in childhood

-         fever, lymphadenopathy, frequent infections

-         inflammatory disease of the digestive tract

-           hypogammaglobulinemia

-        splenomegaly

Diagnosis: low number of T NK lymphocytes.

Treatment: according to clinical presentation: bone marrow transplantation, immunosuppression, immunoglobins ....

Anesthetic Implications:

risk of infection; check bood cell count, immunosuppressive therapy.

References :

Updated: April 2019