[CIS PIDD] [cis-pidd] Cartilage Hair Hypoplasia Management
CIS-PIDD
cis-pidd at lists.clinimmsoc.org
Thu Jan 21 11:05:40 EST 2016
Hello All,
I am wondering what are everyone’s opinions regarding the timing of HSCT in Cartilage Hair Hypoplasia (CHH). We have picked up a girl with CHH on the newborn screen recently, and she is approaching 3 months of age. Would the risk outweigh the benefit if the transplant was done closer to age 1? Would anyone not transplant at all? Any other helpful advice would be appreciated. Description of the patient is below.
Thanks in advance,
Jordan Abbott, M.D.
Assistant Professor of Pediatrics
National Jewish Health
1400 Jackson St., J333
Denver, CO 80206
80-day-old girl with T cell lymphopenia identified by newborn screen and rhizomelic limb shortening noted at birth. She was subsequently found to have compound heterozygous RMRP mutations confirming the diagnosis of cartilage hair hypoplasia. Postnatal course was remarkable only for respiratory distress that resolved within a few days. Baby has been feeding and growing with no infection. No rash other than mild scalp seborrhea. No maternal engraftment by VNTR. Labs are below:
Draw 3: 2 months old
Draw 2: 3 wks old
Draw 1: 2wks old
WBC count
3.9
4.9
Hemoglobin
14.2
14.6
Platelet count
305
238
Neutrophil count
1.6
2.2
Lymphocyte count
1.4
1.2
Monocyte count
0.7
1.3
Eosinophil count
0.2
0.2
ABSOLUTE CD3
216(18)
331(24)
290(24)
ABSOLUTE CD4
144(12)
238(17)
212(17)
ABSOLUTE CD8
26(2.2)
47(3)
38(3)
ABSOLUTE CD19
257(38.1)
411(30)
250(20)
ABSOLUTE CD16/56
472(39)
563(41)
637(52)
PHA Stim
25915 (same day ctrl 94467)
CD4CD45RA (%)
30
44.1
58
CD4CD31+ (%)
38.9
37.3
TCR/AB RESULT:
69.8
TCR/GD RESULT:
22.7
IgA
17
<10
IgM
80
40
IgG
462
788
TCR Vb1
4.35()
TCR Vb2
2.72(L)
TCR Vb3
1.64()
TCR Vb4
2.03()
TCR Vb5.1
7.06()
TCR Vb5.2
0.57(L)
TCR Vb5.3
0.45(L)
TCR Vb7.1
1.02(L)
TCR Vb7.2
0(L)
TCR Vb8
2.2(L)
TCR Vb9
0.83(L)
TCR Vb11
0.45(L)
TCR Vb12
2.61(H)
TCR Vb13.1
2.74()
TCR Vb13.2
1.04(L)
TCR Vb13.6
0.85(L)
TCR Vb14
4.11()
TCR Vb16
0.57()
TCR Vb17
3.12(L)
TCR Vb18
0.17(L)
TCR Vb20
1.02(L)
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