[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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