[CIS PIDD] [cis-pidd] interesting case
Notarangelo, Luigi
Luigi.Notarangelo at childrens.harvard.edu
Wed May 14 17:14:11 EDT 2014
Dear David,
I think this may be a leaky SCID or a combined immunodeficiency of some kind.
Did you look at the distribution of central memory, effector memory and Temra? What were the values?
Can you retrieve the Guthrie card (California stores them indefinitely) and have it tested for TRECs at birth? Same for the sibling?
Best,
Gigi
Luigi D. Notarangelo, M.D.
Jeffrey Modell Chair of Pediatric Immunology Research in Boston
Director, Research and Molecular Diagnosis Program on Primary Immunodeficiencies
Division of Immunology, Children's Hospital
Professor of Pediatrics and Pathology, Harvard Medical School
Karp Building, 10th floor, Rm 10217
1 Blackfan Circle
Boston, MA 02115
USA
(tel) (617)-919-2276
(fax) (617)-730-0709
Secretary: Luisa Raleza
email: luisa.raleza at childrens.harvard.edu
From: <Infante>, Anthony J <INFANTEA at uthscsa.edu<mailto:INFANTEA at uthscsa.edu>>
Reply-To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Date: Wednesday, May 14, 2014 at 5:03 PM
To: CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>>
Subject: RE: [cis-pidd] interesting case
I would be concerned about possible XLP.
Tony Infante
From: Church, Joseph [mailto:JChurch at chla.usc.edu]
Sent: Wednesday, May 14, 2014 3:41 PM
To: CIS-PIDD
Subject: RE: [cis-pidd] interesting case
? hypomorphic ADA?
From: David Buchbinder [mailto:dbuchbinder at CHOC.ORG]
Sent: Wednesday, May 14, 2014 12:48 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] interesting case
Dear Colleagues,
I have a interesting case that would benefit from some input -
7 year old Latino male referred for continuation of IVIG therapy. He has a history of recurrent respiratory tract infections and cytopenias. He was treated with IVIG for some time although this was discontinued. He also has marked neutropenia - multiple marrow exams done with some diminished celluarity at time 50-70%. No maturational arrest. Some hemophagocytes noted.
Consanguinity is noted. A brother was diagnosed at 3 yrs of age with disseminated varicella and pneumonia requiring mechanical ventilation. Noted to be lymphopenic at that time. Treated with IVIG for a short period of time. Now doing “fine” and lost to follow-up. He also has 2 sisters that are healthy.
I reinitiated IVIG (his IgG was low at around 537, IgA 29, IgM < 25). His Ab responses were low – tetanus 0.049, Hib < 0.11, Strep pneumonia titers all <0.3. He is pan-lymphopenic.
CD4 / CD8 rato 0.4
CD3 % 90.0
CD3 absolute 0.485
CD19 % 4.0
CD19 absolute 0.024
CD45% 100.3
CD3 CD4 % 24.0
CD3 CD4 absolute 0.131
CD3 CD8 % 55.0
CD3 CD8 absolute 0.297
ABS NK cells 6.0
CD3- CD16+ CD56+ absolute 0.032
Decreased proportions of naïve CD4 and CD8 T cells were also noted. Mitogen studies are abnromal. NK function is also absent. He remains on GCSF.
Some work up had been done including a few genetic analyses (CD40L, WAS, Perforin) - these were negative.
Any suggestions / comments are welcome.
Sincerely,
Dave Buchbinder, MD
Division of Hematology
CHOC Children's Hospital
CHOCLX-MGSM made the following annotations
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