Nesrine Radwan, Egypt

Faculty of Medicine, Ain Shams University Pediatric Allergy and Immunology

Presenter of 1 Presentation

Poster Display Malignancy and PID

A FAMILY WITH HODGKIN'S LYMPHOMA AND ITK DEFICIENCY

Lecture Time
11:16 - 11:17
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
82
Presentation Topic
Malignancy and PID

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+Tā€cells 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.

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