[CIS PIDD] [cis-pidd] Complex presentation in 72 year old man

[CIS-PIDD]

Dear Colleagues,

I am seeking any advice or comments on a complex case:

Sept 2016: 72 y/o Caucasian male in generally good health except for some concerns for unintentional weight loss since 2014. After travel to the New England area he presented with skin rash and enlarged tonsil. He was prescribed augmentin for tonsillitis.  Two days after starting augmentin the skin rash began to spread and he was referred to dermatology. At the time of presentation, he was on 9 mg prednisone which he was taking for 1 year to treat polymyalgia rheumatica. Skin biopsy was performed along with lab studies.  Ultimate working diagnosis was DRESS. Patient was started on higher dose prednisone.

Nov 2016: hospitalized with fever/rash while still taking 40 mg daily of prednisone. Sputum PCJ+, blood CMV PCR+ (45,000 IU/ml) noted to have profound lymphopenia (acquired based on previous CBCs). CT scans demonstrated increased number of lymph nodes in retroperitoneum and mediastinum with rectal thickening. Patient was on HIV NR. Flow studies showed absolute CD3 count ranging from 200-500s.  Absolute B cell count in peripheral blood undetectable. IgG 300s. Protective titers to several past immunizations. Rectal biopsy demonstrated plasma cells and was negative for CMV. Bone marrow biopsy was done and demonstrated presence of T cell aggregates and B cells, areas of fibrosis and spindle cell proliferation.  The is no genetic evidence of T or B cell clonality. There were no clear features of LGL or ALPS. PCJ and CMV were treated with good response. Steroids were tapered slightly.

Jan 2016: Bone marrow showed normocellularity, no fibrosis or spindle cell proliferation seen on the first study.

March 2017: Presented with ecchymoses and undetectable platelet count, T cell numbers unchanged, IgG over 2,000. Bone marrow demonstrated trilineage hematopoiesis including normal to slightly increased megas, no fibrosis and normal cellularity. Bone marrow cytogenetics normal, myeloid malignancy panel by NGS at ARUP DNMT3A c.2645G>A variant at 21% frequency (a variant observed in patients with cytopenias of undetermined significance or intermediate stage of MDS). Hematology is unclear of the significance of this finding since patient doesn’t meet criteria for AML or MDS. ITP was unresponsive to increased steroid dose, IVIG or eltrombopag.  Treated with rituxan (375 mg/m2 X4 doses) and cellcept.  Platelet count increased after cellcept and rituxan therapy. Research-based autoantibody panel was unrevealing.

Aug 2017: thrombophlebitis: pain and fever in right lower calf.  Needle aspirate MSSA+ treated with IV cefazolin. Patient remains on 20 mg prednisone daily because of reappearance of rash with taper. His T cell numbers remain in the 200 range, B cells absent.  His IgG level without supplementation is 700.

This gentleman is being followed by numerous specialist without a unifying diagnosis.  Many of the services feel this is a primary immune problem.  The patient and his wife are focused on this as well and are seeking a definitive diagnosis to explain the year-long saga. I remain concerned for a malignancy.  My question to the group is if I am missing anything from a primary or secondary immunodeficiency perspective?  Have any of you had a similar case and if so, what was the outcome? Other suggestions?

Thank you


Christine M. Seroogy MD, FAAAAI
Associate Professor
University of Wisconsin School of Medicine and Public Health
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
1111 Highland Avenue
4139 WIMR
Madison, WI  53705-2275
phone: 608-263-2652
fax: 608-265-0164



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