Poster Display Immune dysregulation & autoimmunity

A CASE OF COMMON VARIABLE IMMUNODEFICIENCY WITH AUTOIMMUNITY, LYMPHOPROLIFERATION AND A B-CELL MONOCLONAL POPULATION THAT RESPONDED TO RITUXIMAB

Lecture Time
10:27 - 10:28
Presenter
  • Helena S. Jang, Australia
Room
Poster Area
Date
19.09.2019, Thursday
Session Time
10:00 - 17:00
Board Number
93
Presentation Topic
Immune dysregulation & autoimmunity

Abstract

Background and Aims

There is an increasing appreciation in the complexity of managing patients with common variable immunodeficiency (CVID) characterized by immune dysregulation and autoimmunity. Despite high potential for developing malignancy, treatment recommendations remain poorly standardized. We present a case of CVID characterized by autoimmunity, lymphoproliferation and a small B-cell monoclonal population that responded to rituximab.

Methods

A 39-year-old Caucasian male with CVID complicated by diffuse lymphoproliferation, granulomatous disease and autoimmune cytopenia developed worsening manifestations eight years after the diagnosis.

Results

Axillary lymph node biopsy revealed granulomas consistent with CVID, with a small CD10 positive B-cell monoclonal population on flow cytometry. Bone marrow biopsy was unremarkable. Genetic analysis for CTLA-4 haploinsufficiency and PIK3CD gain-of-function mutations was negative. Given high risk of lymphoproliferative disease, he was commenced on rituximab induction therapy. Patient declined maintenance oral immunosuppressants. Progress CT imaging ten months later showed improvement in pulmonary granulomas, near-resolution of lymphadenopathy and reduction in splenomegaly. His neutropenia resolved, with improvement in thrombocytopenia. His disease remains stable on monthly intravenous immunoglobulin replacement.

Conclusions

There is a paucity of guidelines on the management of CVID characterised by immune dysregulation and autoimmunity. Literature evidence for treatment options is largely based on case series and case reports. Our case illustrates the effectiveness of rituximab in prompting regression of lymphoproliferation and autoimmune cytopenia. Patients with evidence of immune dysregulation regardless of identifiable genetic mutations are at particularly high risk of malignancy. It is paramount that they are vigilantly assessed and consistently monitored for development of malignancy.

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