Abstract
The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis, hypogammaglobulinemia, and/or lymphomas. Recently, X-linked inhibitor of apoptosis (XIAP/BIRC4) gene defects, in families with XLP but without SH2D1A gene defects, has been defined. The distinction from primary immunodeficiencies with a defined genetic cause is mandatory. A six-year-old male patient was admitted with the complaints of persistent general lymphadenopathy, for two years had fever, bilateral cervical multiple microlymphadenopathy, hepatic/splenic enlargement with laboratory findings as decreased serum immunoglobulins, negative EBV VCA IgM (viral capsid antigen) and anti-EBV EA (antibody to early D antigen), positive EBV VCA IgG (viral capsid antigen) and EBV EBNA (antibody to nuclear antigen). SH2D1A gene analysis was negative. XIAP/BIRC4 sequencing revealed two novel single nucleotide variants (exon 7, 1978G > A, and 1996T > A) in the 3′UTR of the gene in both patient and mother which were not disease causing. XIAP protein expression was found to be normal. The clinical and laboratory resemblance, no gene mutations, and normal XIAP protein expression led us to think that there may be another responsible gene for XLP. The patient will to be followed up as CVID until he presents new diagnostic signs or until the identification of a new gene.
Highlights
The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis (HLH), hypogammaglobulinemia, and/or lymphomas [1]
Based on the previous reports that XLP and Common variable immunodeficiency (CVID) may mimic each other, we report a 6-year-old boy, who has the clinical and laboratory signs of both disease
We revealed the difficulty of having an exact diagnosis molecular analysis for XLP was performed
Summary
The X-linked lymphoproliferative syndrome (XLP) is a rare, inherited immunodeficiency characterized by recurrent episodes of hemophagocytic lymphohistiocytosis (HLH), hypogammaglobulinemia, and/or lymphomas [1]. It is exceptional among human X-linked immunodeficiencies as critical events occur after EBV infection. Mutations in the X-linked inhibitor of apoptosis (XIAP/BIRC4) gene, in families with XLP but without SAP mutation, have been defined [1, 7]. X-linked inhibitor of apoptosis protein (XIAP) has originally been described as an antiapoptotic protein that acts through direct inhibition of caspases It is ubiquitously expressed in all normal tissues [9,10,11]. We revealed the difficulty of having an exact diagnosis molecular analysis for XLP was performed
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