[CIS PIDD] MBL deficiency

[Seppänen Mikko]

Dear Richard,

I tend to agree with many others who also would like to find some other defect in our female colleague...

Why? In Finland MBL def is as common as 7-8% in general population, further 2-3% have very low levels (published, Aittoniemi J et al). I have seen quite a few, especially since in highly active genital HSV2 pts have it more commonly, yet even if they have somewhat more sinusitis than their peers, they do not suffer from pneumonias or invasive infections (MBL2 recognizes HSV2, we have shown that MBL2 def is associated with active genital HSV2). I typically see 1-2 pts with CH100L 0% /week. If I meet one with true problems there is usually yet another cause and MBL2 def is a cofactor.

The suggested MASP2 def in Scandinavia is appr 1/10 000, most individuals are asymptomatic (the case in NEJM had coexisting SAD/SPAD as well!), thus MASP2 is likely much like MBL def (which does not affect longevity in the population). However, if one has PAD (CVID, XLA,SAD...) + MBL def, in our clinic and in the literature they are more prone to develop pneumonias and bronchiectasis, like shown in 3-4 studies already.

Thus, MBL def and pneumonias+ other purulent infections= which OTHER defect does she have? :
Clearly not PAD, thus cystic fibrosis (compound heterozygote of hypomorphic mutations?)?, ciliary dyskinesia? (nasal exhaled NO level or saccaharine/saccharose test+ EM)? Ficolin-3 like suggested? Other necrotic skin infections or like pointing to IRAK4/MyD88? Cyclic neutropenia? Acquired hyposplenism?

mikko

Lähettäjä: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] Puolesta Richard Wasserman
Lähetetty: 21. kesäkuuta 2012 22:40
Vastaanottaja: PAGID
Aihe: [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

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