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

Mon Sep 11 11:18:53 EDT 2017

Dear Dr Yu
Thanks for your response,
Here is a snapshot for the facs staining it is not in good quality, but is enough to see that only few of the CD19 cells are CD27+ and none of them are IgD. This was made after washing the cells (with PBS) to eliminate the Serum IgD, perhaps it is negative because the washing was not effective?

We did not test for EBV, and we do not have evidence for that infection.

[cid:image003.png at 01D32AE7.ABB193F0]

Thanks

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<mailto:lpedroza at usfq.edu.ec>

De: cis-pidd at lyris.dundee.net [mailto:cis-pidd at lyris.dundee.net] En nombre de CIS-PIDD
Enviado el: lunes, 11 de septiembre de 2017 10:02
Para: CIS-PIDD <cis-pidd at lyris.dundee.net>
Asunto: Re: [cis-pidd] Unusual Hyper IgD

Any sign of EBV viremia?  Has she had SPE/IEF?
Prescott

Sent from my iPhone

On Sep 11, 2017, at 9:42 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
Dear Dr Yu
Thanks for your response,
Indeed the values are high, but again tested 3 times separated by a couple of months and not during an episode. It was evaluated by two immunologist and it was not obvious any other differential diagnosis that point to a rheumatology disease, but I will check for this.

I will try to get the MVA values during the attack, as soon as possible.

Regard the use of IVIG was considered based on the recurrence of upper respiratory tract infections, (otitis, sinusitis, laryngitis, etc) since the age of 3, and this is an issue (as a matter of fact I was contacted for the recurrence of the infections)  nevertheless the IgG is normal to high. We tested for the IgG subclasses and they are normal (IgG1: 708 mg/dL, IgG2: 150 mg/dL, IgG3 85.2 mg/dL and IgG4 101 mg/dL). Unfortunately is quite expensive for us to test the pneumococcal serconversion, so we are waiting to get the insurance approval. We tested for the Lymphocyte subpopulation, and they are normal, only with a little increase for CD4+ and a 60% of them being CD45RO+. The only different was the absence of membrane IgD on B cells, (I can send a picture for the staining if you want).

Again thanks so much for your help

Sincerely
Luis

De: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> [mailto:cis-pidd at lyris.dundee.net] En nombre de CIS-PIDD
Enviado el: lunes, 11 de septiembre de 2017 8:53
Para: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Asunto: RE:[cis-pidd] Unusual Hyper IgD

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<https://urldefense.proofpoint.com/v2/url?u=http-3A__autoinflammatory.org_downloads_comparative-5Fchart-5Ffront.pdf&d=DwMF-g&c=r8oTmdi2pSr9KddHnLjdvg&r=lpNOsTNxStwwlNXX28M_UURTRJ67qse6GnBiR9ht824&m=maPRumVuqjqd2Ob4kMNi8IZmNQsxYRb6Zr5hWUjMqEg&s=mLsOAhdtZ3Kj1k-Mam3NL6I__oOK1daX320S7znGg7I&e=>

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> [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<mailto:lpedroza at usfq.edu.ec>
Diego de Robles y Vía Interoceánica, Quito, Ecuador
http://www.usfq.edu.ec

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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<mailto:lpedroza at usfq.edu.ec>
Diego de Robles y Vía Interoceánica, Quito, Ecuador
http://www.usfq.edu.ec

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________________________________
[http://www4.usfq.edu.ec/owa/logo_usfq.png]             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

Nota de descargo: La información contenida en éste e-mail es confidencial y sólo puede ser utilizada por el individuo o la institución a la cual está dirigido. Esta información no debe ser distribuida ni copiada total o parcialmente por ningún medio sin la autorización de la USFQ. La institución no asume responsabilidad sobre información, opiniones o criterios contenidos en este mail que no estén relacionados con asuntos oficiales de nuestra institución. Disclaimer: The information in this e-mail is confidential and intended only for the use of the person or institution to which it is addressed. This information is considered provisional and referential; it cannot be totally or partially distributed nor copied by any media without authorization from USFQ. The institution does not assume responsibility about the information, opinions or criteria in this e-mail.

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