تشخیص

Causes of fever & hepatosplenomegaly

Systemic bartonellosis

Acute disseminated histoplasmosis, coccidiomycosis & blastomycosis

EBV or CMV

HIV

Kala-azar, typhoid fever, salmonellosis

Malaria or babesiosis

Hemophagocytic syndrom(HLH)

Malignant infiltrations

Storage disease

Collagen vascular diseases

X-linked lymphoproliferative disaese(XLP)

Or Duncan disease is X-linked recessive trait characterized by an inadequate immune response to infection with EBV.

The defective gene is on Xq25 known as SH2D1A.

Although antibody deficiency is frequently present, this is really a T & NK cell defect.

Affected male are usually healthy until they acquire EBV infection.

The mean age of presentation is less than 5 yr.

There are 3 major clinical phenotypes: 

   1)fulminant, often fatal infectious mononucleosis(50%).

   2)lymphoma(25%).

   3)Acquired hypogammaglobulinemia(25%).

XLP overall has an unfavorable prognosis & 70% of affected boys die by age 10 .

Half of XLP given BMT are currently surviving without signs of the disease.