Nesrine Radwan, Egypt
Faculty of Medicine, Ain Shams University Pediatric Allergy and ImmunologyPresenter of 1 Presentation
A FAMILY WITH HODGKIN'S LYMPHOMA AND ITK DEFICIENCY
Abstract
Background and Aims
Interleukin-2 inducible T cell kinase(ITK) is an autosomal recessive primary immunodeficiency disease(PID) associated with Epstein-Barr virus(EBV)-driven lymphoproliferative disorder, lymphoma, and, hemophagocytic lymphohistiocytosis. It is characterized by progressive reduction in CD4+Tācells along with hypogammaglobulinemia.
Methods
We present a consanguineous family from upper Egypt with three siblings sharing the presentation. The eldest was a girl who presented at the age of 6 years with severe pneumonias and generalized lymphadenopathy. Malignancy and tuberculosis were excluded. She died at 10 years of age from pneumonia-associated respiratory failure. The second patient was a boy who presented at the age of 7 years with EBV-positive lymphoma and was successfully treated, but 2 years later he also died from respiratory failure. The third patient was a girl who presented with EBV-positive lymphoma at the age of 7 years responsive to chemotherapy. Two years later, she began having recurrent pneumonias and was found to have CD4+ lymphopenia and hypogammaglobulinemia(Table:1).
Results
Results:
Targeted next-generation sequencing for a panel of 264 genes associated with PID identified a homozygous missense variant in ITK(c.236C>T: p.Pro79Leu). She was treated with intravenous immunoglobulin and is undergoing evaluation for bone marrow transplantation.
Table 1: Laboratory Results:
Laboratory | Result |
CBC: | TLC:9.2x10^9/L Hb:6.7gm/dl Plt:122X10^9/L |
Lymphocyte: | 3X10^9/L |
Ig level: | IgG:342mg/dl IgM:59mg/dl IgA:63mg/dl |
Lymphocyte subset: | CD3:2.9x10^9/L CD4:0.4x10^9/L CD8:1.5x10^9/L CD56:1.38x10^9/L CD19:0.13x10^9/L |
Conclusions
Malignancy can be the first and only presentation of PID. The occurrence of malignancy in more than one family member should raise suspicion for an underlying PID.