70:
Mast Cell Activation Disorders In The Setting Of Idiopathic CD4 Lymphopenia
Saturday, March 3, 2018
South Hall A2 (Convention Center)
Gigia Roizen, Corey Peruffo, Anne L. Maitland, MD PhD
RATIONALE: Idiopathic CD4 lymphopenia (ICL) is a heterogeneous immune disorder with predominately infectious manifestations. However, dysregulation in T cell immunity in primary immunodeficiencies may also lead to dysregulation of the mast cell compartment, causing IgE and non-IgE mediated mast cell activation. We present four patients who developed mast cell activation disorders (MCAD) in the setting of ICL.

METHODS: A retrospective chart review was conducted and pertinent clinical history and data was collected of adult patients that presented ICL and MCAD.

RESULTS: We found four patients who presented concomitant ICL and MCAD. Two patients were diagnosed with ICL first, after a recurrent and opportunistic infections study and, subsequently, they developed MCAD characteristic symptoms (gastrointestinal distress, rhinitis, asthma and urticaria). In the two other cases, MCAD was first diagnosed and after a further immunological study, ICL was found. In two cases, there was also an association with autoimmunity (Mononeuritis multiplex, Spondylarthropathy and uveitis).

CONCLUSIONS:

Cases of ICL have been reported with distinctive manifestations, primarily infectious syndromes, but this is the first time, to our knowledge, that MCAD association is described.

This study provides an opportunity to elaborate the basis of T cell dysregulation among ICL patients and its impact on mast cells, a key regulatory cell population of the innate immune system.

We suggest that each time one of these diseases is diagnosed, the other should be actively sought, as these findings could broaden the therapeutic strategies available for these patients.