[CIS PIDD] [cis-pidd] TC history
Heimall, Jennifer
heimallj at email.chop.edu
Thu Jan 29 16:51:24 EST 2015
I think the falling T and persistently low B cells are a worrisome sign. We have had some patients not fall into the typical genotype/phenotype groupings for SCID, so maybe a broader SCID genetic testing panel would help- for example the Gene DX panel would also include LIG4.
I might consider getting spectrotyping from Mayo to look into the skewed memory T cells.
I would probably get PCR for CMV too .
Jen
From: Haines, Kathleen M.D. [mailto:KHaines at HackensackUMC.org]
Sent: Thursday, January 29, 2015 4:03 PM
To: CIS-PIDD
Subject: [cis-pidd] TC history
Dear All: Al Gillio asked me to post this patient on the list-serve. Basically it's an infant who failed newborn screening but appears to have good cell function. Transplant? Or not? His summary follows.
Kathleen A. Haines, MD
Section Chief, Pediatric Immunology
Section of Pediatric Rheumatology and Immunology
Joseph M. Sanzari Children's Hospital
HackensackUMC
30 Prospect Ave.
Hackensack, NJ 07601
Tel: 551-996-5306
Fax: 201-996-9815
email: khaines at hackensackUMC.org<mailto:khaines at hackensackUMC.org>
11/12/14: Notified NJ NB SCID screen Trec CT 41.1
11/13/14: First visit HackensackUMC, normal exam, normal CBC, no eosinophilia, no rash
ALC 1320, CD3 119, CD4 53, CD8 52, CD56 594, CD19 26
CD4, CD45 RA 46%
CD4, CD45 RA 54%
HIV-1 RNA PCR Negative
Possible T-B-NK + SCID put on strict isolation at home
11/17/14: Mayo mitogens: Viability 43.3 (>75)
PHA % CD45 30.7 (>49.5)
PHA % CD3 49 (>58.5)
11/19/14: FISH PB XY only - no maternal engraftment
12/02/14: Mutation analysis for RAG 1, RAG 2, DCLRE1C negative
1/07/15: ALC 627, CD3 131, CD4 88, CD8 31, CD56 245, CD19 19
CD4, CD45 RA 18%
CD4, CD45 RO 79%
IgG 434, IgM 17, IgE <2, IgA <5
Trec 839 x 106 CD3 cells
Mayo mitogens: Viability 62.4 (>75)
PHA % CD45 31.4 (>49.9)
PHA % CD3 41.8 (>58.5)
Viability 58.5 (>75)
aCD3 aCD28% CD45 49.1 (>37.5)
aCD3 aCD28% CD3 67.0 (>47.6)
1/21/15: CXR: Normal, no effusion, normal heart size, no obvious thymus
AFP: 48.8 (normal for age), IgG 371
Microarray sent to r/o DiGeorge and other syndromes
Complete abdomen ultrasound to r/o third space fluid and abnormal kidney (scheduled)
Echocardiogram (scheduled)
Gaining weight, no infections, normal exam. Still on isolation at home.
In summary:
1. Abnormal Newborn Screen
2. Decreased ALC, decreased CD3, decreased CD4, decreased CD8, decreased CD19, normal CD56
3. <80% CD4, CD45 RO
4. Almost NL PHA and anti CD3/anti CD28 mitogen assays
Questions:
1. Does not fit PIDTC definition of classic SCID or leaky SCID but consistent with idiopathic T-cell lymphopenia (JAMA, 2014)
2. Definitive treatment?
* Observation and viral and PCP prophylaxis and IVIG vs. BMT
3. Further studies?
* Complete SCID mutation analysis
* BM Aspiration? R/O leukemia
__________________________
Alfred P. Gillio, MD
Co-Director
Institute for Pediatric Cancer & Blood Disorders
Joseph M. Sanzari Children's Hospital
HackensackUMC
30 Prospect Ave, WFAN Bldg., 1st floor
Hackensack, NJ 07601
551-996-5600
agillio at HackensackUMC.org<mailto:agillio at HackensackUMC.org>
Kathleen A. Haines, MD
Section Chief, Pediatric Immunology
Section of Pediatric Rheumatology and Immunology
Joseph M. Sanzari Children's Hospital
HackensackUMC
30 Prospect Ave.
Hackensack, NJ 07601
Tel: 551-996-5306
Fax: 201-996-9815
email: khaines at hackensackUMC.org<mailto:khaines at hackensackUMC.org>
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