[PAGID] patient question

[Dewton Vasconcelos]

Dear Susan and Mary-Ellen,

I also agree with Ellen.
EDA-ID due to IkBa is a major possibility. Due to the mild infectious 
disease history, it is also important to look for incontinentia pigmenti 
associated with amorphic NEMO mutations in females. APECED is really 
polymorphic but I've never seen an APECED patient with EB. I wonder if 
she has really EB, or maybe an hypohydrotic ectodermal dysplasia.
Besides lymphoproliferation assays, NK cytotoxicity assays and TLR 
screening tests are valuable too.

Unfortunately I am too far for helping you with the tests, but several 
labs in the US do them.

All the best,

Dewton


Dewton de Moraes-Vasconcelos, M.D.; Ph.D.
University of Sao Paulo School of Medicine


Renner, Eleonore PD Dr.med. wrote:

> EDA-ID due to IkBa mutation or ideed APECED if not ruled out.

> TH17 cell counts would interesting, too.

> Greetings from Munich,

> Ellen Renner

>

> -----Ursprüngliche Nachricht-----

> Von: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] Im Auftrag von Conley, Mary Ellen

> Gesendet: Freitag, 16. Juli 2010 18:58

> An: pagid at list.clinimmsoc.org

> Cc: 'Susan.Schaefer at Hitchcock.ORG'

> Betreff: [PAGID] FW: patient question

>

> A colleague in New Hampshire saw an interesting patient and would like some help.

> What do you think

>

> Mary Ellen Conley, MD

> Department of Immunology/ Mail Stop 351

> St. Jude Children's Research Hospital

> 262 Danny Thomas Place

> Memphis, TN 38105-3678

> FAX  901-595-3977

> TEL  901-595-2576

>

>

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

> From: Susan Schaefer [mailto:Susan.Schaefer at Hitchcock.ORG]

> Sent: Thursday, July 08, 2010 9:12 AM

> To: Conley, Mary Ellen

> Subject: patient question

>

>   She is a 2 year old female with a history of candidiasis and skin,hair, and tooth abnormalities.

>

>   Her infection history has been fairly mild with chronic oral candidiasis since infancy that is well controlled with diflucan.  She has had no invasive fungal infections.  No significant bacterial infections.  No history of chronic diarrhea, skin infections or sinopulmonary infections.

>

> Immune workup showed normal IgGAM and normal T and B cell numbers.  She had transient neutropenia associated with an acute viral infection, but subsequent CBC was normal.  She was diagnosed with Chronic Mucocutaneous Candidiasis elsewhere, but I don't see any labs evaluating T cell response to candida.

>

> She has a history of congenital epidermolysis bullosa.  She also has brittle, dry hair that falls out easily.  She is missing a few teeth (congenital) and her teeth are either pointy or quite narrow.  Her nails are thick, grayish and with prominent ridges.  this was initially thought to be part of her EB but this has improved on diflucan, so may be from fungal infection.

>

> She is currently being worked up by endocrinology because of recent onset of pubic hair.  No evidence of hypoparathyroid, hypothyroid or Addison's to date.

>

> As a baby, she grew and gained weight poorly primarily due to feeding issues.  this was thought to be due to her EB or oral candidiasis.  She is now eating well and gaining on the growth curve at every visit.  Development was initially delayed but is now normal.

>

> I know pts w/ APECED can have tooth and skin abnormalities, but have you heard of EB with this?  Or is there maybe gene linkage between the EB gene (she did test + for heterozygous mutation for EB) and AIRE or some related gene?  What tests would you order?  Would you be interested in seeing her?

>

> There are no acute issues - she's actually doing pretty well right now, but I want to make sure I am monitoring her approriately.  Any thoughts would be greatly appreciated, as always.  Thank you!

>

> Susan Schaefer, MD

> Department of Allergy

> Dartmouth-Hitchcock Manchester

> Phone: (603) 695-2560 / Fax: (603) 695-2562 Dartmouth-Hitchcock.org

>

>

> Email Disclaimer:  www.stjude.org/emaildisclaimer

>

>

>

>    


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