[CIS PIDD] [cis-pidd] Unusual Hyper IgD

[CIS-PIDD]

Hi, Dr. Pedrosa:

As impressive as a 500 U/ml  IgD level is, this case sounds rather strange for hyper IgD / mevalonate kinase deficiency.  Normal inflammatory markers and 2 hour episodes of fever sort of points away from hyper IgD.  Have other (more common) rheumatologic diseases been ruled out?   If it helps, the Autoinflammatory Alliance (formerly NOMID Alliance) has a nice table with the different autoinflammatory conditions:   http://autoinflammatory.org/downloads/comparative_chart_front.pdf

And even if it were hyper IgD, I do not know of data suggesting that IVIG would help with hyper IgD.  By my training, the management for this disease entity would entail NSAIDs, glucocorticoids, and then IL-1 antagonists as for refractory cases.  (Of course, things may have changed since I last looked into this.)   With the consanguinity, this may be a good candidate for whole exome sequencing - the challenge would be where to do it.

Do you have data on the patient's ability to mount anti-vaccine or -pathogen responses?   This would help make a decision on whether exogenous immunoglobulin is indicated to help reduce the recurrent infections (if she has one).   From your e-mail, it's not clear to me if she HAD a repeated history of infections but now does not, or if this is a continued problem.  Are her lymphocyte subsets otherwise intact?

Good luck in the case.

    - Karl

Karl O. A. Yu, M.D., Ph.D., F.A.A.P.
Scientist II and Assistant Director, Center for Infectious Diseases and Immunology
RGH Research Institute | Rochester General Hospital | Rochester Regional Health
1425 Portland Ave., Room R-403, Rochester, NY   14621
Tel  585-922-3709  |  Fax  585-922-2415

From: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] On Behalf Of CIS-PIDD
Sent: Saturday, September 09, 2017 9:39 PM
To: CIS-PIDD
Subject: [cis-pidd] Unusual Hyper IgD


Dear Fellows

we have a girl 19 years old, with history of recurrent infections of the upper respiratory tract, including otitis, sinusitis, and laringitis, cervical lymphadenitis (requiring a surgery) and tonsillitis, she also had a diagnosis of esophageal candidiasis two years ago but without recurrence.  She also presented febrile peaks with a couple of hours in duration without any evident trigger, but with pain and arthralgia; this happened quite often but without periodicity and again, never for more than a couple of hours. She never present diarrhea or other infectious process. in the last three months she presented again with episodes of high fever (39,5C) and pain. the lab values are normal (including inflammatory markers).  The immunoglobulins are on the upper range, with the IgA in 445 mg/dL. The IgD  is always around 500 U/ml (tested three times,

 We tested also the membrane IgD in B cells and was negative (less than 1% of CD19+) but they still CD27 negative. ( the cells were washed to eliminate the soluble IgD). Also, she have low stature (1,47 for 19 years old girl) acne problems and  Her parents are consanguineous (second degree cousins).

My concern is what the real diagnosis is, we are discussing to start IVIG but the immunoglobulins are normal, and also I am not sure about a possible mevalonate Kinase deficiency diagnosis. Any recommendation for an additional test to get a proper diagnosis or treatment?



thanks for your time



Luis Pedroza, PhD

Medical School, Universidad San Francisco de Quito

Quito, Ecuador



________________________________



Luis Alberto Pedroza, Ph.D.
Profesor de Inmunología
Colegio de Ciencias de la Salud, COCSA
Universidad San Francisco de Quito
T: (+593) 2 297-1700 ext. 1783
Correo: lpedroza at usfq.edu.ec
Diego de Robles y Vía Interoceánica, Quito, Ecuador
http://www.usfq.edu.ec





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