[CIS PIDD] [cis-pidd] Test for OKT4 epitope deficiency

Thu Oct 27 01:53:49 EDT 2016

Dear Araceli,

LCK deficiency is another cause of predominant CD4 lymphopenia. In that case CD4 and CD8 surface expression levels are reduced.

Best regards,

Fabian

Fabian Hauck, MD, PhD

Attending physician / Head Immunodeficiency Unit and Immunological Diagnostics Laboratoy
Pediatrics / Pediatric Hematology and Oncology / Immunology (DGfI)

Dr. von Hauner Children’s Hospital
Klinikum der Universität München
Lindwurmstr. 4, 80337 München
Germany

Tel.: +49 89 4400-53931
Fax: +49 89 4400-53964
E-Mail: fabian.hauck at med.uni-muenchen.de<mailto:fabian.hauck at med.uni-muenchen.de>

Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Gesendet: Mittwoch, 26. Oktober 2016 22:20
An: CIS-PIDD
Betreff: Re: [cis-pidd] Test for OKT4 epitope deficiency

Thank you for all the comments.

I have made recommendations for continuation of valacyclovir, and we will also continue to monitor CVM PCRs.

I found his HLADR results from his initial lymphocyte subset panel drawn in August
HLADR 40%, 837

So it looks like OKT4 and HMC class II deficiency have been ruled out. I'm still trying to figure out what else can cause such a selective CD4 lymphopenia in this patient.

His BM has only shown hypocellularity, he has not symptoms of HLH at this point (fever, hepatomegaly, LAD, neurologic symptoms, nl LFTs).

CMA is pending, we plan to obtain Blue Print Panel as well.

Araceli

-----Original Message-----
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Sent: Tue, Oct 25, 2016 10:12 am
Subject: RE: [cis-pidd] Test for OKT4 epitope deficiency

Agree with the HLH concerns.

Would also be wary about calling the CMV asymptomatic and/or stopping treatment until you figure this out. You can have bad rebound and get into trouble with pneumonitis or other issues (particularly if heading to Cy/ATG).

-Blachy

Blachy J. Dávila Saldaña, MD
Attending Physician, Division of Blood and Marrow Transplantation
Children's National Health System
Assistant Professor of Pediatrics
George Washington University School of Medicine and Health Sciences
111 Michigan Avenue, N.W.
Washington, DC 20010

-----Original Message-----
From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, October 25, 2016 10:44 AM
To: CIS-PIDD
Subject: RE: [cis-pidd] Test for OKT4 epitope deficiency

I agree with James re: class II (especially with lack of naïve CD4 cells), and would just point out that your flow data rules out OKT4 epitope deficiency - since CD4+ cells were detected at about the expected frequency. Let us know how the case turns out.

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics Division of Rheumatology Washington University School of Medicine Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu> Lab website: https://urldefense.proofpoint.com/v2/url?u=http-3A__research.peds.wustl.edu_Default.aspx-3Falias-3Dresearch.peds.wustl.edu_Labs_Cooper-5FM&d=DQIFAw&c=Zoipt4Nmcnjorr_6TBHi1A&r=rAv0RMEMpdUphtpo9AaBIUmFcJmqZ-IozxRyfFNABKk&m=6wVYxbLz4aqKqkukQmU1fGOqwwJUrlmttFgFbrzDqso&s=Z-xhNEPQ1UFYkS1hEZ7wure3KlR_XKT_C9HTNlueAXI&e=

-----Original Message-----
From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Tuesday, October 25, 2016 12:46 AM
To: CIS-PIDD
Subject: Re: [cis-pidd] Test for OKT4 epitope deficiency

ClassII expression would be the fastest.

This could be HLH rather than AA. Ferritin? Bone marrow? Could consider xiap. There are assays to test this.

The CD4 are very skewed. Do you know if the CD8s are activated(DR+)?

James

Sent from my iPhone

On Oct 25, 2016, at 12:26 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org%3cmailto:cis-pidd at lists.clinimmsoc.org>>> wrote:

Thank you for your comments,

We haven't ordered class II expression.

He received IVIG and steroids for AA on July

08/19/16 (initial lymphocyte subset panel through ARUP lab)
CD3 37%, 848
CD4 5%, 121
CD8 30% 682
CD19 41%, 940
NK 2%, 458
CD4/CD8 0.17
CD4/CD45RA 8%, 10
CD4/CD45RO 92% 114

CD3 - CD8 = 166

CMV PCR 36,000 cpy/mL

Patient was started on PCP prophylaxis and was referred to infectious disease at this point (due to positive CMV PCR)

10/17/16. Repeat lymphocyte subset panel (in house)
CD3 52%, 1936
CD4 8%, 286
CD8 42%, 1535
CD19 19% 701
NK 28%, 1034
CD4/CD8 0.19

CD3 - CD8 = 401

CMV PCR is negative s/p valacyclovir, AA is not better. Hem/onc is considering treating him with ATG.
He also runs low monocyte counts most of the time.

What are your thoughts regarding best option for genetic testing (i.e. SCID panel, WES)?

Thank you,

Araceli

-----Original Message-----
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org%3cmailto:cis-pidd at lists.clinimmsoc.org>>>
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net%3cmailto:cis-pidd at lyris.dundee.net>>>
Sent: Mon, Oct 24, 2016 4:46 pm
Subject: RE: [cis-pidd] Test for OKT4 epitope deficiency

Sorry for repeating everything Megan Cooper just said....

james

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Monday, October 24, 2016 4:44 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] Test for OKT4 epitope deficiency

What are his percent CD3+ and CD8+ of his TCR+ cells?...you should be able to do the math to see if he has CD4 cells. Also...was class II measured? Does the lab you sent it to have other CD4 clones available?

Best

James

James W. Verbsky M.D./Ph.D.
Associate Professor of Pediatrics and Microbiology Medical Director, Clinical Immunology Research Laboratory Medical Director, Clinical and Translational Research Medical College of Wisconsin Milwaukee, WI

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Monday, October 24, 2016 3:33 PM
To: CIS-PIDD
Subject: [cis-pidd] Test for OKT4 epitope deficiency

Dear Professors,

I follow a patient whom I would like to test for OKT4 epitope deficiency. Does any lab perform this test in the US?
The patient is a 2yo male who presented with severe autoimmune aplastic anemia and was found to have severe CD4 lymphopenia (other lymphocyte subsets are normal) and asymptomatic CMV viremia. Infection history is otherwise unremarkable and patient otherwise appears healthy. HIV and TB tests are negative. He had low response to PHA and ConA and normal response to Pokeweed. IgG is nl, IgM is slightly low. He got IVIG back in July before I was consulted, I haven't gotten vaccine titers.
Aplastic anemia did not improve once CMV viral load became negative s/p treatment with valacyclovir.
I'm considering sending SCID genetic panel on this patient as well.

Thank you,

Araceli

Araceli Elizalde, MD
Immunology Clinic Director
Assistant Professor of Clinical Pediatrics Allergy, Immunology & Rheumatology Children's Hospital of San Antonio Baylor College of Medicine

-----Original Message-----
From: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
To: CIS-PIDD <cis-pidd at lyris.dundee.net<mailto:cis-pidd at lyris.dundee.net>>
Sent: Fri, Oct 21, 2016 5:37 pm
Subject: [cis-pidd] Steroid-responsive Dysuria in CGD
Colleagues:

I follow an 18 month old boy with X-CGD. He seems to have dysuria that is responsive within a day or two to systemic steroids. He has had a normal procto-colonoscopy and most recently normal cystoscopy with biopsies negative for inflammation and with no visual evidence of obstruction in the lower urinary tract.

What am I missing?

Joe Church
Children's Hospital Los Angeles

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