[CIS PIDD] [cis-pidd] 19 year old with 100% CD4+/CD45RA+ cells
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Fri Apr 13 15:42:00 EDT 2018
Hi Hey!
We have a few of these as well in Finland, usually both B and T naives are very high, age may be anywhere 20-45 (i.e. how can they survive?)... Igs and mitogens, vaccine responses and CD3+CD28 mostly ok...(no long term follow up of vaccine responses yet) phenotypes in ours are (still rather mild) are combined PIDD, WES (+/- CNV): no known genes, nor clearly good candidates.
Ours are not with urticaria, do not yet have a clue what is going on and follow them up...
So we are both missing something.
Mikko Seppänen
Head, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND
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 13.4.2018 kello 20.19:
I have a 19 year old girl who had work up done by a community allergist for idiopathic urticarial and found to be lymphopenic.
Healthy, no autoimmunity, no infections.
She had very low T cells (CD4 246, CD8 274) but normal B and NK cells
The odd thing is that she had the highest naïve cell percentage I’ve seen in an adult.
Rest of the immune system work up normal including mitogens, antibodies and vaccine titers.
12/21/17 12:45
CD3+ 56
CD3+/CD4+ 43
CD3+/CD45RA+ 97
CD4+/CD45RA+ 100
CD4+/CD45RA+/CD62L+ 81
I asked two of the smartest immunologists I know, who advised me to repeat in a few months with thought that maybe it was just recovery post infection
I brought her back 4months later, and her lymphocyte count is a bit higher at CD4 353 now, and again a really high naïve T cell percentage.
I cut and paste labs below.
04/02/18 11:25 % T-Cells (CD3) 67 (Ref. Range 49 - 84)
Total T-Cells (CD3) 696 (Ref. Range 603 - 2,990)
% Helper Cells (CD4) 34 (Ref. Range 28 - 63)
Total Helper Cells (CD4) 353 (Ref. Range 441 - 2,156)
% Suppressor Cells (CD8) 28 (Ref. Range 10 - 40)
Total Suppressor Cells (CD8) 285 (Ref. Range 125 - 1,312)
% B-Cells (CD19) 18 (Ref. Range 6 - 27)
Total B-Cells (CD19) 182 (Ref. Range 107 - 698)
% NK Cells (CD16/CD56) 14 (Ref. Range 4 - 25)
Total NK Cells (CD16/CD56) n 140 (Ref. Range 95 - 640)
Helper/Suppressor Ratio 1.24 (Ref. Range 0.71 - 3.23)
DiGeorge Syndrome Comment DiGeorge Syndrome Comment
CD3+ 63
CD3+/CD4+ 50
CD3+/CD45RA+ 98
CD4+/CD45RA+ 96
CD4+/CD45RA+/CD62L+ 81
Otherwise fine. Am I missing something?
Should I just recheck her again in 6months or so?
Thanks very much,
Hey
Hey Chong M.D. Ph.D.
Division Chief of Pediatric Allergy & Immunology
Assistant Professor
Children's Hospital of Pittsburgh of UPMC
One Children's Hospital Drive
4401 Penn Avenue
Pittsburgh, PA 15224
412-692-7885
From: cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net> <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>> On Behalf Of CIS-PIDD
Sent: Friday, April 13, 2018 12:28 PM
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Subject: RE: [cis-pidd] XLT and MMR/Varicella Vaccination
I agree with Joe. You could also check if he makes T cell proliferative responses to Tetanus before proceeding with the first VZV.
Manish
On Apr 13, 2018 9:23 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:
Eleanora:
I’m conservative with these types of patients.
I would check to see if the patient made specific antibodies to tetanus toxoid and Hib.
If he did, I would then give VZV first.
If he breaks out in florid varicella you can treat with acyclovir, but I would be hesitant to give MMR.
If he tolerates VZV then 1 month later give MMR.
Good luck.
Joe Church
Children’s Hospital Los Angeles
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: Friday, April 13, 2018 9:10 AM
To: CIS-PIDD
Subject: [cis-pidd] XLT and MMR/Varicella Vaccination (EXTERNAL EMAIL)
Dear all,
I would like your advice regarding a patient just diagnosed with XLT (WAS mut. V332A). He presented with hiatal hernia and he underwent surgery shortly after birth. Afterwards he developed persistent mild lymphadenopathy (LC and inguinal), reason why he came to our attention. Common infectious diseases were excluded. He suffers from some mild eczema, he has IgE of 494 kU/L with egg specific IgE. He also has small platelet volume, but not thrombocytopenia so far. His lympho subsets are normal as well as immunoglobulin values.
We run a gene panel and we fund a mutation on WAS gene compatible with XLT. Lymphadenopathy progressively solved. He never had major infections and he doing well.
He is now 15 m/o and he needs to undertake MMR/Varicella vaccination. What would you suggest to do?
Looking forward your inputs!
Best wishes
Eleonora
——————————————————————————————————————
Eleonora Gambineri, MD
Researcher/Assistant Professor
Department of "NEUROFARBA": Section of Child's Health
University of Florence
Department of Haematology-Oncology: BMT Unit
"Anna Meyer" Children's Hospital
Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662738(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>
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Eleanora:
I’m conservative with these types of patients.
I would check to see if the patient made specific antibodies to tetanus toxoid and Hib.
If he did, I would then give VZV first.
If he breaks out in florid varicella you can treat with acyclovir, but I would be hesitant to give MMR.
If he tolerates VZV then 1 month later give MMR.
Good luck.
Joe Church
Children’s Hospital Los Angeles
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: Friday, April 13, 2018 9:10 AM
To: CIS-PIDD
Subject: [cis-pidd] XLT and MMR/Varicella Vaccination (EXTERNAL EMAIL)
Dear all,
I would like your advice regarding a patient just diagnosed with XLT (WAS mut. V332A). He presented with hiatal hernia and he underwent surgery shortly after birth. Afterwards he developed persistent mild lymphadenopathy (LC and inguinal), reason why he came to our attention. Common infectious diseases were excluded. He suffers from some mild eczema, he has IgE of 494 kU/L with egg specific IgE. He also has small platelet volume, but not thrombocytopenia so far. His lympho subsets are normal as well as immunoglobulin values.
We run a gene panel and we fund a mutation on WAS gene compatible with XLT. Lymphadenopathy progressively solved. He never had major infections and he doing well.
He is now 15 m/o and he needs to undertake MMR/Varicella vaccination. What would you suggest to do?
Looking forward your inputs!
Best wishes
Eleonora
——————————————————————————————————————
Eleonora Gambineri, MD
Researcher/Assistant Professor
Department of "NEUROFARBA": Section of Child's Health
University of Florence
Department of Haematology-Oncology: BMT Unit
"Anna Meyer" Children's Hospital
Viale Gaetano Pieraccini,24
50139 FIRENZE
ITALY
Tel +39 055 5662405 (office)/055 5662738(BMT ward)
Fax +39 055 4221012
e-mail: eleonora.gambineri at unifi.it<mailto:eleonora.gambineri at unifi.it>; e.gambineri at meyer.it<mailto:e.gambineri at meyer.it>
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