[PAGID] Lymphopenia and arthritis

[raas0027 at umn.edu]

Dear Brian,

Interesting case. Lymphocytopenia, impaired cell-mediated immunity, 
arthropathy (can look like JIA) and osteopenia can all be [variable] 
features of sarcoidosis, which can occur at this age.

Not a perfect fit however (e.g. hx low PTH, growth failure, facies) but 
sarcoidosis is pretty heterogeneous.

What about the following:

IgE?

Hepatosplenomegaly?

Intrathoracic (or other) lymphadenopathy?

Skin or eye changes?

Regards,

Jason



On May 5 2010, Brian P Vickery wrote:


>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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-- 
Jason Raasch, MD

Midwest Immunology Clinic
15700 37th Ave N
Suite 110
Plymouth, MN 55446

(Phone) 763.577.0008
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