[CIS PIDD] Teen with immunodeficiency and recent onset ataxia

[Notarangelo, Luigi]

Dock8? Eosinophilia, low IgM, high IgE would be consistent. Most patients have interagenic deletions that can be identified with array for CNV

Gigi Notarangelo

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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






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