[PAGID] Lymphopenia and arthritis

[Brian P Vickery]

Dear Colleagues: 

I would appreciate your input regarding the following 9 year old boy with 
lymphopenia and unusual T cell phenotype, growth failure, osteopenia, and 
a deforming polyarticular arthritis, which is progressive and disabling, 
affecting the large joints, producing contractures, and requiring 
methotrexate and intermittent joint injections. The osteopenia was 
associated with a low PTH which Endocrine has decided was spurious. 

He has a history of recurrent acute / chronic otitis media requiring four 
sets of tympanostomy tubes and has been treated for sinusitis clinically 
many times. There is no history of pneumonia, sepsis, meningitis, chronic 
diarrhea, oral thrush or opportunistic infection. He has verruca plana 
which are not responding to imiquimod. 

He is small (< 3 %ile for ht & wt) with fine blonde, almost whitish hair, 
and a hint of a triangularly shaped face but not otherwise dysmorphic and 
his intelligence is above average. 

The family history is unremarkable. 

Lab findings: 
-Normal quantitative immunoglobulins with protective diphtheria & tetanus
-ALC 1000 - 1500; note these numbers and the phenotype were obtained prior 
to starting MTX
-Lymphocyte enumeration notable for increased B & NK cells, decreased 
alpha/beta and increased gamma/delta T cells, and normal RTEs: 
 
CD3
45.8%
453
CD4:CD8 
0.82

Ti alpha/beta
25.5%
252
Ti gamma/delta
19.0%
188
CD16
20.4%
202
CD56
19.6%
194
CD19
29.5%
292
CD20
31.9%
316
CD45RO
16.9%
77
CD45RA
56.7%
257
45RA+/62L+
27.2%
123

-Impaired proliferation to PHA (44,000), and ConA (12,000), and borderline 
response to PWM (44,000)
-No 22q11 deletion
-RMRP sequencing normal
-46XY with normal Affymetrix SNP 6.0 microarray
-Sweat chloride normal with negative CFTR mutation screen
-IGF-1 and IGFBP-3 low
-RF neg, HLAB27 neg, ANA 1:160, speckled pattern

I would be grateful for any diagnostic or therapeutic suggestions. 

Best regards, 
Brian 
___________________
Brian Vickery, MD
Division of Pediatric Allergy & Immunology
Duke University Medical Center
DUMC Box 2644, Durham NC 27710
919.681.2949

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