Abstract Details

Title Progressive Multifocal Leukoencephalopathy Associated with Idiopathic CD4+ Lymphocytopenia in a Patient with Heterozygous STAT4 Mutation

Topic Infectious Disease

Presentation(s) P10 - Poster Session 10 (5:30 PM-6:30 PM)

Poster/Presentation
Number 13-014

Objective Herein, we present a PML case associated with idiopathic CD4⁺lymphocytopenia who had heterozygous STAT4(signal transducer and activator of transcription 4) mutation.

Background Progressive multifocal leukoencephalopathy (PML) is a polyomavirus associated with demyelination caused by reactivation of JCV. PML is related to the immunosuppressive state. However, there are also some immunocompetent cases in the literature.

Design/Methods

Results A 57-year-old previously healthy female patient presented with progressive left-hemiparesis. The patient’s brain MRI showed a non-enhancing hyperintense lesion in the right frontal lobe. The patient’s cerebrospinal fluid examination was within normal limits with a negative JCV PCR. Her viral serology was negative. With the initial diagnosis of autoimmune demyelination, she was put on immunosuppressive treatments, including methylprednisolone, plasmapheresis and cyclophosphamide due to worsening of the clinical and radiological findings. A brain biopsy four months after the symptom onset revealed enlarged bizarre-shaped astrocytes with SV40 positive nuclear inclusions confirming the presence of PML. Flow-cytometric analysis of the patient revealed severely reduced CD4+ T-cell counts (46/mm3).Immunoglobulin IgG andIgA levelsweremildly decreased with normal IgM levels. No reason for the reduced CD4+ T-cells levels was identified. Next-generation analysis revealed heterozygous STAT4 c.1025T>C (p.Val342Ala) mutation. The patient was put on mirtazapine, cidofovir, prophylactic antibiotics, and IVIg treatment.

Conclusions

Our case is the first case with PML with a heterozygous STAT4 mutation. STAT4 plays a critical role in the differentiation of naive CD4+ T-cells into Th1 cells. There is a limited number of case reports with heterozygous STAT4 mutationwho had opportunistic infections with intracellular pathogens such as paracoccidioidomycosis and human herpesvirus 8. However, more research on this topic needs to be undertaken to elucidate the association between STAT4 and CD4+ lymphocytopenia.

Authors/Disclosures
PRESENTER	No disclosure on file
	No disclosure on file
Tuncay Gunduz, MD (ISTANBUL UNIVERSITESI NOROLOJI SERVISI)	The institution of Dr. Gunduz has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis Pharmaceuticals. Dr. Gunduz has received research support from Turkish Neuroimmunology Society.
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
	No disclosure on file
Murat Kurtuncu, MD (Istanbul University)	Dr. Kurtuncu has nothing to disclose.
Mefkure Eraksoy, MD (ISTANBUL UNIVERSITY)	Dr. Eraksoy has nothing to disclose.

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Abstract Details