[CIS PIDD] [cis-pidd] Unusual case of combined immunodeficiency with normal numbers of CD4 and CD8 cells

[CIS-PIDD]

Would consider assessing for maternal engraftment or oligoclonal T cell populations if not done.  Did you assess naive T cell populations by flow?  Rash present?

Ben

Benjamin L. Wright, MD | Assistant Professor | Allergy, Asthma & Clinical Immunology
Office Tel: 480.301.4284<tel:480.301.4284> | Fax: 480.301.9066<tel:480.301.9066>| Pager 127 or (79)1-5302<tel:(79)1-5302>| wright.benjamin at mayo.edu<mailto:wright.benjamin at mayo.edu>
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On Jun 28, 2016, at 1:08 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

We are seeing a  6-month old boy, born at term and previously healthy, until he developed progressive tachypnea beginning at age 5 months.  He is a beautiful-looking baby without dysmorphic features,  and with normal teeth , nails and hair.  He was eventually noted to have a severe diffuse interstitial pneumonia and pneumocystis was identified by bronchoscopy.  We assumed that he had SCID and started a work-up with an unexpected combination of results because he has normal numbers of CD4 and CD8 Tcells:

WBC 8540 with 59% lymphs (5038), 37% PMNs, and 5% monos
Over the course of hospitalization , has had WBC as high as 24,440 with 82% lymphs though both WBC and ALC have since returned nearly to above baseline

56% CD3
26% CD4 (2729)
27% CD8
36% CD19
36% CD20
5% CD16/56

IgG 409
IgA <7
IgM 92

HIV PCR negative.

I had originally considered X-linked hyper-IgM as a possible explanation for normal T cell numbers, the immunoglobulin, and PCP.
However, have just finished mitogen assay with another unexpected result for a patient with completely normal T cell numbers:

Stimulus                               Patient                 Control

Unstim                                 146 + 90                185 + 50

PHA                                       691 + 329             141,710 + 14,498

Con A                                    422 + 229             53,231 + 474

SpA                                        338 + 3                  14,388  + 4,270

We also know that he has normal MHC class –I expression, but the sample was QNS for class-II expression.
TRECs were not done since he was born before Maryland started screening for SCID, but we will get that done this week.


Are there any tests that people can suggest that will direct the next stages in the work-up, or should we simply charge ahead with a whole exome (or whole genome) sequence?

Howard
Howard M. Lederman, M.D., Ph.D.
Professor of Pediatrics, Medicine and Pathology
Division of Pediatric Allergy and Immunology
Johns Hopkins Hospital - CMSC 1102
600 N. Wolfe Street
Baltimore, MD 21287-3923
Phone: 410-955-5883
Fax: 410-955-0229
Email: Hlederm1 at jhmi.edu<https://mobile.johnshopkins.edu/OWA/redir.aspx?C=02aee18ab96e42ab8cb61c09ecb79487&URL=mailto%3aHlederm1%40jhem.jhmi.edu>

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