[CIS PIDD] Teen with immunodeficiency and recent onset ataxia

[Sullivan, Kathleen]

Not great fits but at least to consider:



CANDLE/Nakajo-Nishimura  PSMB8 deficiency

Fever (not always)

Seizures

Thin face

Clubbed nails

Pernio or heliotrope rash is very consistent

High ESR, anemia high IgG, high CPK

HSM

Basal ganglia calcification

Contractures/arthritis/arthralgias

Lipodystrophy

Developmental delay

 

Aicardi Goutieres/Chilblains/Pernio  TREX1, RNASEH2A/B/C, SAMHD1

AKA Cree encephalitis, pseudo-TORCH

AR pattern

Presents in the first few weeks of life

Basal ganglia calcifications

CSF pleocytosis

HSM

Seizures (53%)

Fever (40%)

Puffy swelling of ears, fingers and toes with ulcers (43%)

Progressive delays and spasticity

 

On Jun 13, 2012, at 7:23 PM, 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

>  

>  

>  

>  

>  

>  

> <mg_info.txt>


Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363


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