[CIS PIDD] Teen with immunodeficiency and recent onset ataxia

[raas0027 at umn.edu]

Also agree with Gigi et al.

We have a 30 year old gentleman, similar to 26 year old described in that 
abstract: http://www.abstracts2view.com/pas/view.php?nu=PAS12L1_3213

Our patient started with aortic calcifications noted almost a decade ago. A 
few years ago he presented with stroke and subsequently found to have 
significant intracranial arterial calcification.

Actually underwent carotid bypass last year and biopsy specimen revealed 
histology consistent with Takayasu arteritis (which is fascinating, I 
think).

I went back into this patient's chart and much to my chagrin/embarassment 
found that he had a fairly well documented discrepancy (>10 mm Hg)in 
sytsolic blood pressure between left and right upper extremities - quite 
characteristic of Takayasu.

Also noted to have retinal vascular involvement.

So Joe, when you see this young man I think we would all be most interested 
to hear about the extent of his vascular calcifications. I think looking 
beyond the chest vessels is reasonable given what others have described.

Alexandra (Freeman)- if you are out there: do you know if the patients in 
that abstract had retinal vessel involvment?

If enough cases are put togehter, I wonder if type/extent of mutation (e.g. 
intragenic mutations) would be predictive of vasculitis?

The bigger question: what can Dock8 tations teach us about the pathophys of 
'isolated' large-vessel vasculitis?

So many interesting questions...

-Jason






On Jun 13 2012, Church, Joseph wrote:


>Colleagues:

>

>I will be seeing a 15yo Middle Eastern young man born to first cousins.

>

 He has had chronic upper airway infections (H. influenzae and S. 
pneumoniae), recurrent presumed bacterial pneumonias, two year history of 
cervical adenopathy, and recent onset of ataxia. He has had recurrent 
purpuric skin rashes on lower extremeties that last for ~3days. Biopsies 
suggested "dermal hypersensitivity reaction” with negative 
immunofluoresence.

>

>Vascular calcifications involving aorta, aortic arch were noted.

>Ataxia was thought to be secondary to CNS calcifications (? confirmed)

>

>Development is reportedly normal.

>

>Limited labs available include the following:

>

>WBC 10,700 with 37% eosinophils

 CD4 332↓ IgG 21.1 g/L↑ Hepatitis and HIV screening negative.

>CD8    18%                IgA      6.19 g/L↑

>CD19  892                 IgM      <0.1 g/L↓

>NK      152                 IgE      1200 u/ml↑

>

 Mandibular mass biopsy: salivary gland with diffuse lymphocytic 
infiltrates.

>

>I am unaware of any immunosuppressive therapy.

>

 If this (rather incomplete) picture suggests any genetic syndrome, I would 
appreciate any help.

>

>Thanks.

>

>Joe Church

>Children's Hospital Los Angeles

>

>

>

>

>

>

>


-- 
Jason Raasch, MD

Midwest Immunology Clinic
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Suite 110
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