[PAGID] Lymphopenia and arthritis

[Waleed Alherz]

I think STAT5b defect should be considered. This is because growth failure (may be caused by GH resistant), immune dysregulation (evident by the arthritis), and T lymphopenia associated with dysfunction.
Waleed Al-Herz, MDAllergist & Clinical ImmunologistAl-Sabah HospitalKuwait

To: pagid at list.clinimmsoc.org
From: brian.vickery at duke.edu
Date: Wed, 5 May 2010 16:06:35 -0400
Subject: [PAGID] Lymphopenia and arthritis



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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