[CIS PIDD] Teen with immunodeficiency and recent onset ataxia

[Bodo Grimbacher]

I agree with Gigi: in most patients (2/3) with Dock8 deficiency we find
intragenic deletions.

However, in our series of 40 UNRELATED Dock8 cases we found 27 indels but
also 13 families (one third) where Dock8 deficiency would have been missed
if only CNV were done.

Best,
Bodo

Am 14.06.12 02:06 schrieb "Church, Joseph" unter <JChurch at chla.usc.edu>:


>Luis, Gigi:  Thank you both.  JC

>

>-----Original Message-----

>From: pagid-bounces at list.clinimmsoc.org

>[mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Nacho Gonzalez

>Sent: Wednesday, June 13, 2012 4:58 PM

>To: pagid at list.clinimmsoc.org

>Subject: Re: [CIS PIDD] Teen with immunodeficiency and recent onset ataxia

>

>Agree with Luigi, described in an abstract (NIH, April 2012, Titled

>"Aortic Dilation and Early Aortic Calcification in DOCK8 Deficiency")

>

>http://www.abstracts2view.com/pas/view.php?nu=PAS12L1_3213

>

>

>Luis

>

>2012/6/14 Notarangelo, Luigi <Luigi.Notarangelo at childrens.harvard.edu>:

>> Dock8? Eosinophilia, low IgM, high IgE would be consistent. Most

>> patients have interagenic deletions that can be identified with array

>> for CNV

>>

>> Gigi Notarangelo

>>

>> Sent from my iPhone

>>

>> Luigi D. Notarangelo, MD

>> Jeffrey Modell Chair of Pediatric Immunology Research Division of

>> Immunology Children's Hospital Boston Professor of Pediatrics and

>> Pathology Harvard Medical School Karp Building, Room 10217

>> 1 Blackfan Circle

>> Boston, MA 02115

>>

>> Tel: (617)-919-2276

>> Fax: (617)-730-0709

>>

>>

>> On Jun 13, 2012, at 7:23 PM, "Church, Joseph"

>><JChurch at chla.usc.edu<mailto:JChurch at chla.usc.edu>> 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

>>

>>

>>

>>

>>

>>

>> <mg_info.txt>

>

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