[CIS-PAGID] TAP1 deficiency

[Cunningham-Rundles, Charlotte]

Will sound strange, but we used amniotic membranes once in a kid with SCID
with horrible ulcers. Got these  from the OB docs.  Was an old idea.  But it
helped.  
Charlotte Cunningham-Rundles MD PhD
Departments of Medicine, Pediatrics
The Immunology Institute
Mount Sinai School of Medicine
1425 Madison Avenue,
New York City, New York, 10029
212 659 9268 (phone)
212 987 5593 (fax)



From: Dewton Vasconcelos <dmvascon at usp.br>
Reply-To: PAGID <pagid at list.clinimmsoc.org>
Date: Mon, 25 Apr 2011 17:29:46 -0300
To: PAGID <pagid at list.clinimmsoc.org>, Dewton Vasconcelos <dmvascon at usp.br>,
Lais Pinto de Almeida <laispinto at yahoo.com.br>
Subject: [CIS-PAGID] TAP1 deficiency

We are needing help for a case that came to our outpatient unit diagnosed as
TAP-1 deficiency.


The patient, a 25-year-old woman, born to consanguineous parents, diagnosed
as presenting a homozygous TAP-1 deficiency (TAP1 RT-PCR led to the
identification of a G-to-A mutation at nucleotide 2239).

Personal record review revealed recurrent episodes of bacterial pneumonia,
which had begun when the patient was 6 months old. She had 1 or 2 episodes
of bacterial pneumonia each year. Chest radiography performed when she was 6
years old showed bronchiectasis. At age 12 she developed multiple leg skin
ulcers, which persisted for ~2 years and resolved completely without
specific treatment. After a brief period of quiescence, the skin lesions
returned and became chronic, with recurrent periods of exacerbation, and
rarely evolving to complete healing. At age 14 she was diagnosed as having
WG based on clinical features (lung disease, sinusitis, and skin lesions), a
skin ulcer biopsy showing the presence of granulomas, and the cANCA
positivity. Treatment with high-dose glucocorticoids and intravenous monthly
pulse cyclophosphamide was initiated. One year later, while still receiving
immunosuppressive therapy, she was hospitalized for severe pansinusitis
necessitating intravenous antibiotics.

For 6 years the patient received continuous treatment with a combination of
glucocorticoids and other immunosuppressive medications. Over time, she
received treatment with daily oral cyclophosphamide, methotrexate,
azathioprine, and infliximab, without obvious improvement in her symptoms.
The skin lesions continued to exacerbate periodically, with no response to
high-dose glucocorticoids or other therapy.

Flow cytometric studies of PBMCs from the patient revealed normal
percentages of CD19+ B cells, CD3-,CD56+ natural killer (NK) cells, and CD3+
T cells. However, CD8+ T cells represented only 6% of all T lymphocytes (26%
in a normal donor);Although several patients with TAP deficiency have been
shown to have high numbers of TCR gamma/delta T cells, this T cell subset
was not dramatically expanded in our patient (4.8% of all T lymphocytes).
Regarding NK cells, we observed a relatively high percentage of the
CD56bright subtype in our patient (16.5% of NK cells [<10% in normal
donors]).

We have a question about what could be done to improve the severe ulcers in
the legs of the patient, besides continuous antibiotics and specific
dressings. 

We would be really grateful to any suggestion which would help alleviate the
suffering of the patient.

Best regards,

Lais Pinto de Almeida

Dewton Vasconcelos

-- 
Dewton de Moraes Vasconcelos, MD, PhD
University of São Paulo School of Medicine Department of Dermatology
Lab. of Medical Investigation in Dermatology and Immunodeficiencies - LIM56
Dermatological Manifestations of Primary Immunodeficiencies Outpatient Unit
ADEE-3003


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