[CIS PIDD] [cis-pidd] Persistent EBV strep and staph infections

[CIS-PIDD]

I agree with you Dr. Mikko.
Best regards,
Juan

Juan Carlos Aldave, MD
Allergy and Clinical Immunology
Lima, Perú

A Dios sea la gloria!

El 7 oct. 2015, a las 12:02 a.m., CIS-PIDD <cis-pidd at lists.clinimmsoc.org> escribió:

> 
> Yes, 
> 
> or PIK3R1, CTLA4, or a number of others not yet tested... 
> 
> This is exactly the kind of patient where WES or targeted NGS panel would be the first line genetic test - in my opinion. Far too many possibilities and overlap in the clinic, and if indeed this is for example PIK3CD or CTLA4, there would even be targeted therapy likely in the near future. 
> 
> Thus the stakes to reach a genetic dg ASAP are high. I just hope her insurance understands this, after already 11 perfectly good guesses.... Not to mention the fact that we do not yet know the full clinical and lab spectrum of these newer diseases. 
> 
> I would be interested to know if anyone shares this point of view or disagrees strongly? 
> 
> Mikko
> 
> Mikko Seppänen, MD, PhD, Associate professor
> Specialist in Internal Medicine and Infectious Diseases
> Chief, Rare Disease Center, Helsinki University Hospital (HUH)
> Children's Hospital, P.O.Box 280
> FI-00029 HUS
> FINLAND
> &
> Senior Consultant (PIDD)
> Adult Immunodeficiency Unit
> Inflammation Center, HUH
> phone +358 947180201
> GSM +358 50 4279606
> fax +358 9 47174703
> 
> 
> 
> Oyl Mikko Seppänen
> Harvinaissairauksien yksikkö (HAKE)
> 
> Mikko Seppänen, MD, PhD, Associate professor
> Specialist in Internal Medicine and Infectious Diseases
> Chief, Rare Disease Center, Helsinki University Hospital (HUH)
> Children's Hospital, P.O.Box 280
> FI-00029 HUS
> FINLAND
> &
> Senior Consultant (PIDD)
> Adult Immunodeficiency Unit
> Inflammation Center, HUH
> phone +358 947180201
> GSM +358 50 4279606
> fax +358 9 47174703
> CIS-PIDD <cis-pidd at lists.clinimmsoc.org> kirjoitti 6.10.2015 kello 23.24:
> 
>> I would ask Gulbu if she thinks this could be PIK3CD GOF.
>> 
>>  - Ivan
>> 
>> From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
>> Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net>
>> Date: Tuesday, October 6, 2015 at 3:19 PM
>> To: CIS-PIDD <cis-pidd at lyris.dundee.net>
>> Subject: [cis-pidd] Persistent EBV strep and staph infections
>> 
>> Dear all,
>> I would appreciate any comments and suggestions regarding the work up or treatment of the patient below. 
>> 9 year old girl with chronic active EBV infection and staph vaginitis
>> Developed Infectious mononucleosis January 2015
>> February- March- continued to have low grade fevers and fatigue
>> April 2015: EBV infection, hepatosplenomegaly, transamnitis, Strep throat and bilateral tonsillar abscess- resolved with antibiotics, liver enzymes normal at discharge
>> May 2015: Abdominal pain, rash (face, arms, groin: described as maculopapular/ vesicular and eczematous at various points in time) and vaginal discharge- skin/ vaginal culture positive for GAS, treated empirically for possible herpes infection (eczema herpeticum) and for strep. Cultures negative for HSV.
>> June 2015: seen in ID clinic and repeat EBV PCR 9.3 million, platelets 75,000, continued to have vaginal discharge and rash
>> July- August 2015- improved rash and discharge.
>> Past history: History of few ear infections or URIs in 8 years of life, intermittent asthma, and seasonal allergies
>> September 2015: Positive MRSA
>> October 2015: Developed sinus drainage and papulovesicular rash on nape of neck, fingers- now on abdomen, worsening vaginal discharge, and fevers- admitted with MSSA skin infection, continues to have hepatosplenomegaly
>>  
>> Labs:
>> EBV PCR:
>> April:      4515000 copies
>> April 30: 4600000 copies
>> May:       1580000 copies
>> June:       9300000 copies
>> October   1735000 copies
>>  
>> EBV CVA IgM 2.89à3.05
>> EBV VCA IgG 5.45à7.21
>> EBV NA IgG 1.21à2.58
>>  
>> ESR 26à35
>> Normal LFTs
>>  
>> Mild microcytic anemia
>> Normal WBC, platelets, neutrophil, and lymphocyte counts
>> High immunoglobulins (IgG 1900, IgM 283, IgA 665, IgE 123), low tetanus titer, 14/23 (60%) protective pneumococcal titersà post vaccine titers protective 0.66 and 19/23.
>>  
>> Lymphocyte subsets with high  CD3 2601 (85%), CD4 (1867/61%), and CD8 cells (1071/35%), double positive CD3 cells, normal B and NK cells, NKT cells. Naïve T cells, helper, suppressor normal, high absolute memory T helper (1469/79%) and suppressor cells (659/62%). Low memory B cells and class switched memory B cells
>>  
>> Normal lymphocyte proliferation to PHA, PWM, Candida. Decreased response to tetanus (0.8% as % CD3)
>>  
>> July :
>> Perforin expression normal in NK cells and CTL, increased MCF of granzyme B in NK cells (1272)
>> Normal NK cell function
>> CTL function normal
>> CD107a normal
>> sIL2R: 1900 high,  Triglycerides 192, Ferritin normal, Fibrinogen 331
>>  
>> Gene sequencing negative for CD27, CORO1A, ITK, STK4, STX11, SH2DIA, PRF1, RAB27A, UNC13D, XIAP, STXBP2. Further sequencing in process.
>>  
>>  
>> Thanks,
>>  
>> Nikita Raje, MD
>> Assistant Professor of Internal Medicine and Pediatrics
>> University of Missouri-Kansas City, Kansas City, Missouri
>> Division of Allergy/ Asthma/ Immunology
>> Children's Mercy Hospital
>> Truman Medical Center
>> Office: 816-960-8885
>> Fax: 816-960-8888
>> nraje at cmh.edu
>>  
>>  
>> 
>> Electronic mail from Children's Mercy Kansas City. This communication is intended only for the use of the addressee. It may contain information that is privileged or confidential under applicable law. If you are not the intended recipient or the agent of the recipient, you are hereby notified that any dissemination, copy or disclosure of this communication is strictly prohibited. If you have received this communication in error, please immediately forward the message to the Children's Mercy Information Security Officer via return electronic mail at informationsecurityofficer at cmh.edu and expunge this communication without making any copies. Thank you for your cooperation.
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