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

Wed Oct 7 01:01:56 EDT 2015

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<mailto: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<mailto:cis-pidd at lists.clinimmsoc.org>>
Reply-To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Date: Tuesday, October 6, 2015 at 3:19 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto: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 2.89-->3.05

EBV VCA IgG 5.45-->7.21

EBV NA IgG 1.21-->2.58

ESR 26-->35

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 titers--> 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<mailto:nraje at cmh.edu>

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