Which clinical history findings are characteristic of X-linked lymphoproliferative syndrome type 1 (XLP1)?

Updated: Jan 27, 2019
  • Author: Karen Seiter, MD; Chief Editor: Emmanuel C Besa, MD  more...
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Answer

The main clinical features of X-linked lymphoproliferative syndrome type 1 (XLP1) are hemophagocytic lymphohistiocytosis (HLH) , dysgammaglobulinemia, severe fulminant infectious mononucleosis and lymphoma. Less frequent manifestations of XLP1 are aplastic anemia, vasculitis, and lymphoid granulomatosis. [13]

Up to 50% of patients demonstrate a range of immune abnormalities, ranging from impaired vaccine responses to generalized hypo-gammaglobulinemia. These may be incidental findings during a diagnostic workup or lead to recurrent infections, particularly respiratory infections. [6]

One third of patients manifest hypogammaglobulinemia, typically by a median age of 8 years. Patients with isolated hypogammaglobulinemia have a less severe course than others with this disease. Life-threatening infections seem to be rare, especially if intravenous immunoglobulin (IVIG) is administered on a regular basis

Up to 35% of patients have no evidence of previous Epstein-Barr virus (EBV) infection; many of these patients are diagnosed based on family history.  In EBV-negative patients, XLP1 is associated with higher rates of dysgammaglobulinemia and lymphoma. However, EBV-negative boys with XLP1 can still develop HLH, although less frequently than those with EBV infection, and the trigger is unknown. [5]  


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