[PAGID] Unequal Lynonization in a CGD daughter

[Dewton Vasconcelos]

Dear Richard

Despite the fact that frequently we heard about the "myth" that X-CGD 
carriers are asymptomatic, we frequently see female patients carrying 
one copy of a mutated gp91phox gene presenting atypical deep infections 
similar to CGD patients and skin lesions usually described as lupoid.
Nevertheless autoimmune manifestations are not rare and the infections 
presented by your patient are not typical of CGD patients (Staph aureus, 
Serratia, Burkholderia, enterobacteriaceae, Actinomycetes) and fungi 
(Aspergillus, Candida, rarely Acremonium, Scedosporium etc).
Therefore I would think that the infections might be probably related to 
proteins (IgG) loss secondary to the proteinuria and the 
immunesuppression by corticosteroids and Mycophenolate mofetil.
Certainly a biopsy would be of paramount importance in the elucidation 
of the possible (probable) pathogen to direct the therapy.

Best regards,

Dewton Vasconcelos
Univ. of Sao Paulo Medical School

Richard Wasserman escreveu:

> Nine year old daughter of a patient with x-linked CGD.

>

> At age three had post-streptococcal glomerulonephritis. At age five

> she presented with a new diagnosis of membranoproliferative

> glomerulonephritis and was treated with prednisone. She had no

> infection problems until several months after the diagnosis of MPGN

> but was then referred for evaluation because of three episodes of

> otitis, conjunctivitis and strep throat and one pneumonia in a four

> month period. At that time IgM: 147 mg/dL (49-196) IgA: 236 mg/dL

> (34-194) IgG: 431 mg/dL (551-1301). Hypogammaglobulinemia was felt to

> be due to proteinuria. Further evaluation was started but she was lost

> to follow up.

>

> She was treated with prednisone for 3 years for MPGN. About one year

> ago prednisone was stopped and Cellcept was started. Within 24 hours

> of starting Cellcept she developed tender cervical, submandibular and

> axillary adenopathy and fever. Cellcept was stopped and the nodes

> slowly improved taking one month to normalize. This occurred three

> times (restarting Cellcept) with the same result. Was seen by her

> pediatrician and treated with unknown antibiotics without benefit.

> Episodes were associated with worsening of MPGN. One year after the

> last dose of Cellcept intermittent, painful adenopathy has persisted.

> Not unexpectedly, there is worsening of MPGN with every infection. She

> is currently getting prednisone 120mg/day.

>

> Neutrophil oxidative burst assay was 32 and 25 on two separate

> occasions, normal >73 (test performed at IBT Laboratories)

>

> Paternal grandmother of this child has diminished oxidative burst and

> a history of abscesses and pneumonia.

>

> I would appreciate suggestions on further evaluation and

> recommendations for management.

>

>   


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