Carmen Rodriguez-Sainz, Spain

Hospital General Universitario Immunology

Presenter of 1 Presentation

Poster Display Malignancy and PID

A GERMLINE HETEROZYGOUS CARD11 MUTATION IN A PATIENT WITH IMMUNODEFICIENCY AND A CLINICAL HISTORY OF RECURRENT HODGKIN´S LYMPHOMA

Lecture Time
11:20 - 11:21
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
86
Presentation Topic
Malignancy and PID

Abstract

Background and Aims

Secondary immunodeficiencies are often induced by oncohaematological diseases and their treatments. But sometimes an haematological malignancy may be the first manifestation of a primary immunodeficiency. Our aim was to characterize the immunodeficiency of a patient with frequent respiratory infections and a previous history of Hodgkin´s Lymphoma.

Methods

The patient, a male 53 years old, was diagnosed with a nodular lymphocyte-predominant Hodgkin´s lymphoma at 18 years and treated with systemic chemotherapy (COPx4), irradiation and splenectomy. He suffered several mediastinic and infradiaphragmatic recurrences (at 21 years, 37 years and 43 years), treated with irradiation and chemotherapy (CVPx8 and R-CHOPx6), respectively. Since then he remains in remission. Immunological evaluation included the study of the genomic DNA for a panel of 200 genes of the immune system by Next Generation Sequencing.

Results

The patient referred recurrent respiratory infections since childhood. Blood analyses showed a moderate lymphocytosis (5.1 x 109/L) composed predominantly of T cells (3.8 x 109/L). Levels of IgG and IgE were normal with slightly decreased IgA and IgM levels. Genomic DNA analysis showed the heterozygous mutation p. Pro553His in CARD11, a muti-domain scaffold lymphocyte-specific protein linking antigen receptor with downstream NF-kB activation. Heterozygous gain of function CARD11 mutations have been previously involved in BENTA disease (B cell Expansion with NF-kB and T cell Anergy) and associated with B-cell lymphoma.

Conclusions

We have identified a germline heterozygous CARD11 mutation (p.Pro553His) in a patient with immune-dysregulation and previously diagnosed with recurrent Hodgkin´s lymphoma. Functional studies are required to confirm the causal relation genotype-phenotype.

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