[CIS PIDD] [cis-pidd] 2 children with elevated IgM

[CIS-PIDD]

Joe,
Did you check for IgE? A mutation in CD40 should be ruled out, if they don't have detectable IgE. This presentation is not typical for hyper-IgM, but even if that is the case it cannot be X-linked and might be due to a hypomorphic mutation in one of the autosomal recessive genes in the pathway and a milder variation of the block that allows partially normal function.
I would also run SPEP and immunofixation to rule out monoclonality, even though that would be a very unusual coincidence to find in 2 sisters at this age.
Best regards,Soheil
Soheil Chegini, M.D.Exton Allergy & Asthma Associates656 West Lincoln Hwy.Exton, PA 19341Phone: (610) 269-3066Fax: (610) 269-8615
 

     From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
 To: CIS-PIDD <cis-pidd at lyris.dundee.net> 
 Sent: Wednesday, September 30, 2015 1:58 PM
 Subject: [cis-pidd] 2 children with elevated IgM
   
 #yiv7298465472 #yiv7298465472 -- filtered {font-family:Calibri;panose-1:2 15 5 2 2 2 4 3 2 4;}#yiv7298465472 p.yiv7298465472MsoNormal, #yiv7298465472 li.yiv7298465472MsoNormal, #yiv7298465472 div.yiv7298465472MsoNormal {margin:0in;margin-bottom:.0001pt;font-size:11.0pt;}#yiv7298465472 a:link, #yiv7298465472 span.yiv7298465472MsoHyperlink {color:blue;text-decoration:underline;}#yiv7298465472 a:visited, #yiv7298465472 span.yiv7298465472MsoHyperlinkFollowed {color:purple;text-decoration:underline;}#yiv7298465472 span.yiv7298465472EmailStyle17 {color:windowtext;}#yiv7298465472 .yiv7298465472MsoChpDefault {}#yiv7298465472 filtered {margin:1.0in 1.0in 1.0in 1.0in;}#yiv7298465472 div.yiv7298465472WordSection1 {}#yiv7298465472 Colleagues:    We are seeing 2 sisters, 2 and 4 years of age, who have histories of minor respiratory tract infections.  There is no family history of immune deficiency or dysfunction.  Physical examinations are normal, and growth and development are normal.    Labs demonstrated normal IgG and IgA levels and normal antibody responses to routine immunizations.  Both children had IgM levels in the 1,500mg/dL range (~10 x upper limit of normal).    I am at a loss to come up with a cause for their “hyper IgM.”     Your thoughts would be appreciated.    Joe Church Children’s Hospital Los Angeles       
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