[CIS PIDD] MBL deficiency

[Keller, Michael D]

Dear sir:

The other forms of partial oculocutaneous albinism w/ immunodeficiency sound like they should be on the list - LYST, AP3B1.   Have you looked at hair?   Flow cytometry for CD107a might help narrowing whether it's a docking issue versus a problem with granule contents.  

Best,
Mike 
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From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of Nelson, Robert P Jr [ronelson at iupui.edu]
Sent: Thursday, June 21, 2012 7:11 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS PIDD] MBL deficiency

All,

2+ mos old admitted 5/13 with abdominal tenderness, bloody stools, no fever, hypoglycemia, leukocytosis, anemia, hepatocellular injury.  Hyperferritinemia, hemophagocytosis, per bone marrow exam, negative cytogenetics.  IL-2 receptor high. NK cell function absent.  Immunoglobulins, T and B cells otherwise not indicative of broad-based primary immunodeficiency.  Patient experienced respiratory failure, renal failure treated supportively for pseudomonas peritonitis and developed ecthyma gangrenosum. Responded to Dex/VP-16. + pip-tazo.   Steroids weaned now monitoring coags, fibrinogen.  Analyisis for PRF1, STX 11 genes, MUNC, STXBP2, RAB27 negative for known HLH mutations.  CD11B and CD18 levels wnl. Has no matched sib, alternative donor search in progress. Suggestions regarding additional evaluation?  Thanks.

Bob


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From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] on behalf of Kirkpatrick, Charles [Charles.Kirkpatrick at ucdenver.edu]
Sent: Thursday, June 21, 2012 5:59 PM
To: 'pagid at list.clinimmsoc.org'
Subject: Re: [CIS PIDD] MBL deficiency

Richard:

My family of three is still receiving IgG.  There have been no antibiotic requiring infections during the past 2 years.

Chuck Kirkpatrick

From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Richard Wasserman
Sent: Thursday, June 21, 2012 1:40 PM
To: PAGID
Subject: [CIS PIDD] MBL deficiency

I am seeing a 43 year old female physician with a lifelong history of recurrent sinusitis, two episodes of pneumonia in the past 10 years that required ICU care (one of which sounds like septic shock), significant post-op MRSA infection after sinus surgery and a large cellulitis after stingray envenomation. Immunoglobulins are normal (IgG >1000), pneumococcal antibody titers (14 serotypes) are strongly positive (12/14 >1ug/ml, 8/14 >5ug/ml). Mannose binding lectin was not detectable.

I know that Dr. Kirkpatrick reported a family treated successfully with IGIV. Are there other suggestions for treatment? Antibiotic prophylaxis?
Richard Wasserman
Dallas

--
Richard L. Wasserman, MD, PhD
DallasAllergyImmunology
7777 Forest Lane, Suite B-332
Dallas, Texas 75230
Office (972) 566-7788
Fax (972) 566-8837
Cell (214) 697-7211