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

[CIS-PIDD]

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


________________________________
[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

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