[CIS PIDD] [cis-pidd] Patient question

[Sokolic, Robert (NIH/NHGRI) [E]]

Dr. Atkinson-
 The constellation of a platelet secretory defect, immunodeficiency, lo IgM and h/o thrombocytopenia resolved after splenectomy is reminiscent of Wiskott-Aldrich syndrome, which is unusual in a woman. Excellent response to pneumovax would also not be typical. The MPV is 9 – what is the range of normal in your lab? One could consider female WAS (rare, would need homozygous deletion or skewed lyonization), WAS in the setting of a mismatch of genotypic and phenotypic sex, or WIP deficiency (JExMed 209:29-34-, 2012, attached). Dr. Giliani might better be able to comment on the possibility of WIP deficiency. Peripheral blood or cheek swab karyotype could investigate chromosomal sex. Dr. Candotti's lab at NIH does FACS for WASp protein.
-Rob Sokolic
NHGRI

From: "<Prescott Atkinson>", "M.D." <PAtkinson at peds.uab.edu<mailto:PAtkinson at peds.uab.edu>>
Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Date: Monday, April 28, 2014 9:28 AM
To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Subject: [cis-pidd] Patient question


I'd appreciate advice from the group on a case.  I am following a 43 yo white female with a history of repeated pneumonias since childhood, now with bronchiectasis, h/o ITP/splenectomy and an impressive h/o recurrent infections - mainly RLL pneumonias/bronchiectasis. IgM is mildly low but immunoglobulins are normal.  She has a h/o cervical carcinoma and now has been diagnosed with squamous cell carcinoma of the neck positive for p16 suggesting HPV.  She has a h/o bleeding with normal platelet counts and her platelet function assay is abnormal (normal kinetics but low ATP release) - this has been repeated.  She developed gray hair in her 20's and has had bilateral hearing loss since childhood.  Response to pneumovax was excellent (pre-titers are shown below).  NK cell function (Cincinnati) was normal.





* Final Report *

The patient's platelets aggregated with all agonists tested: arachidonic acid, ADP and collagen, consistent with normal platelet function. However, we noticed decreased ATP release when her platelets were exposed to collagen and arachidonic acid, but not thrombin. This finding may represent a mild defect in her granular contents, which may explain some of her bleeding history. Dr. M. Marques

This test was reviewed and approved by the signing pathologist. 10/15/2013 15:25:07 CDT

__________________________________________________________________________________

Flow Cytometry Clinical Information

The patient is a 43 year old female with a clinical history of IgA deficiency. The patient's current WBC is 10,700 cells/microliter with a differential of 52% segs, 38% lymphs, 9% monos, and 1% basos. The platelet count is 273,000 cells/microliter and the hemoglobin is 12.3 g/dL.

The following cell markers were analyzed by flow cytometry; the data is on file in the Laboratory: CD2, CD3, CD4, CD5, CD8, CD10, CD16, CD19, CD20, CD23, Mu, Delta, Kappa, Lambda, CD56, CD57 and CD45.

This test was developed and its performance characteristics determined by UAB Pathology. 　It has not been cleared or approved by the U.S. Food and Drug Administration. 　The FDA has determined that such clearance or approval is not necessary. 　This test is used for clinical purposes.　This laboratory is certified under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) as qualified to perform high complexity clinical laboratory testing.

FC Gross Description

The specimen is received in a single tube labeled with the patient's name and containing 3 mL of peripheral blood. The specimen is processed by the whole blood lysis technique.

Dr. Reddy/Dr. Hanna

10/15/2013 10:21:48 CDT

FC Diagnosis

Peripheral blood:

- Mild CD4+ T-cell predominance; CD4:CD8 ratio of 3.6

　

Vishnu Reddy MD

Verified: 10/15/13 13:37 VR/CAH

Reviewed by: Hanna, Courtney Alexandra MD MD

FC Pathologist Comment

The Wright stained peripheral smear shows normal hematopoetic elements.

From the CBC data, the absolute lymphocyte count is 4066 cells/microliter.

Flow cytometry analysis shows that 67% of the lymphocytes are CD3+ T cells for an absolute T cell count of 2,732 cells/microliter. About 51% of the lymphocytes are CD4+ T cells, while 14% are CD8 T cells for a ratio of 3.6. Subsets of the T cells co-express CD56 (0.4% of the total lymphocytes), CD57 (2% of the total lymphocytes), and CD16 (0.2% of the total lymphocytes). About 9.1% of the lymphocytes are NK lineage cells. A total of 26% of the lymphocytes are B cells (absolute count = 1,038 cells/microliter), with a small subset of CD10+ B cells (CD10+, CD19+) ( 0.1% of lymphocytes). A total of 2.5% of the lymphocytes co-express CD19 and low density CD5. About 95% of the B cells show bright expression of surface IgM and IgD with polyclonal light chains, with about 2.5% of the B cells being surface IgM and IgD negative.

　

Result Name


Current Result


Normal Range


WBC (10^3/cmm)


10.70 10/14/2013


4.00 - 11.00


RBC (10^6/cmm)


3.79 10/14/2013


3.80 - 5.20


Hgb (gm/dL)


12.3 10/14/2013


11.3 - 15.2


Hct (%)


38 10/14/2013


33 - 45


MCV (fL)


100 10/14/2013


80 - 96


MCH (pg)


32 10/14/2013


27 - 33


MCHC (gm/dL)


32 10/14/2013


32 - 36


Platelet (10^3/cmm)


273 10/14/2013


150 - 400


RDW (%)


14.1 10/14/2013


11.0 - 16.0


MPV (fL)


9 10/14/2013
        　

NRBC Inst (10^3)


0.0 10/14/2013
        　

Neutrophils (%)


52 10/14/2013


35 - 73


Abs.Neutrophils (10^3/cmm)


5.55 10/14/2013
        　

Lymphocytes (%)


38 10/14/2013


15 - 52


Monocytes (%)


9 10/14/2013


4 - 13


Eosinophils (%)


0 10/14/2013


0 - 5


Basophils (%)


1 10/14/2013


0 - 2


IgG 1 (mg/dL)


540 10/14/2013


382-929 -


IgG 2 (mg/dL)


363 10/14/2013


241-700 -


IgG 3 (mg/dL)


72 10/14/2013


22-178 -


IgG 4 (mg/dL)


0.8 10/14/2013


4.0-86.0 -


IgG Total (mg/dL)


1,050 10/14/2013


694-1618 -


Pneumo Sero 1 (mcg/mL)


0.88 10/14/2013
        　

Pneumo Sero 3 (mcg/mL)


1.95 10/14/2013
        　

Pneumo Sero 4 (mcg/mL)


0.76 10/14/2013
        　

Pneumo Sero 5 (mcg/mL)


12.21 10/14/2013
        　

Pneumo Sero 6B (mcg/mL)


3.67 10/14/2013
        　

Pneumo Sero 7F (mcg/mL)


3.64 10/14/2013
        　

Pneumo Sero 8 (mcg/mL)


1.81 10/14/2013
        　

Pneumo Sero 9N (mcg/mL)


2.68 10/14/2013
        　

Pneumo Sero 9V (mcg/mL)


1.10 10/14/2013
        　

Pneumo Sero 12F (mcg/mL)


3.11 10/14/2013
        　

Pneumo Sero 14 (mcg/mL)


5.95 10/14/2013
        　

Pneumo Sero 18C (mcg/mL)


8.01 10/14/2013
        　

Pneumo Sero 19F (mcg/mL)


17.58 10/14/2013
        　

Pneumo Sero 23F (mcg/mL)


0.96 10/14/2013
        　

Plt Agg


10/14/2013
        　

　



T. Prescott Atkinson, MD PhD, Professor and Director

Division of Pediatric Allergy, Asthma & Immunology

University of Alabama at Birmingham

Tel: 205-939-9072

Fax: 205-975-7080

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