[PAGID] 14 y/o boy with hypocellular bone marrow/warts

[Christine Seroogy]

I recently saw a 14 y/o boy for immune evaluation.  He was seen 
recently by our hematologist for evaluation of pancytopenia and his 
bone marrow biopsy demonstrated hypocellularity, notably no fibrosis 
was seen or abnormal infiltrates.  His infectious history:  recurrent 
otitis media in early childhood, longstanding history of warts which 
have been difficult to treat.  His family history is very compelling 
for an inherited immunodeficiency:  his Father died in his early 30's 
from chronic atypical mycobacterial infection and aspergillus noted 
terminally.  HIs immune evaluation was negative for HIV multiple times, 
low NK cell numbers, and poor T cell function and normal immunoglobulin 
levels.  There is a paternal great uncle who died from disseminated 
atypical mycobacterial infection at Mayo Clinic about 40 years ago.

This patient's immune evaluation:  WBC count:  2.9, absolute neutrophil 
count 636, Hgb 10, platelets 138,000

Flow cytometry: 54% CD4+ (absolute 896), 41% CD8+ (abs. 681), 1% NK 
CD3-CD56+CD16+ (absolute 17), 2% CD19+ (absolute 33).

Mitogen proliferation was normal, absent proliferative response to 
Candida and marginal response to tetanus (SI 4.79)

Quantitative immunoglobulins were normal with protective titers to 
numerous vaccine antigens.

I have sent blood to Steve Holland at NIH for evaluation of IL-12/IFN-g 
receptor and cytokine production analysis.  Does anyone have additional 
thoughts for evaluation?

In terms of management, he was placed on daily azithromycin for MAI 
prophylaxis and will have another bone marrow biopsy in the next 6 
months.

Thank you for any insights.  Chris


Chris Seroogy, M.D.
Assistant Professor
Dept. of Pediatrics
Mail:  H4/474 CSC, Mailstop 4108
Shipping:  H4/431 CSC, Mailstop 4108
600 Highland Ave.
Madison, WI  53792
phone: 608- 263-2652
fax: 608-265-0164