[CIS PIDD] [cis-pidd] Cartilage Hair Hypoplasia Management

Thu Jan 21 13:25:15 EST 2016

Dear Jordan,

I follow a number of RMRP 70A>G patients from the Amish community and some non-Amish patients with CHH across a broad age spectrum.  My experience has been that some of these children do present with a strikingly abnormal laboratory workup, most commonly with T-cell dysfunction or a combined immunodeficiency.  In that context, they generally having ongoing immunodeficiency.  This is in contrast to the patients with CHH who have normal immune studies which causes me to worry for other reasons.  Not all of the patients with CHH have abnormally low TRECs in that they are not all picked up by newborn screen as your patient was.

Given the (undetectable or very low?) TREC analysis on state NBS, the apparent T-cell lymphopenia with abnormal proliferation relative to your control and the risk of immunodeficiency, lymphoma and chronic lung disease of relevance to CHH natural history, I would give strong consideration to transplant in your patient.  If the patient has a sibling match or very good registry option, transplant becomes very attractive in this setting.  I would consider this patient to be high risk for subsequent infectious complications based upon current information.   

I hope the above is helpful.  Glad to discuss further if that is of interest.

Sincerely,

Nick

Nicholas L. Rider, D.O. 
Associate Professor of Pediatrics
Clinic Chief Allergy-Immunology
Texas Children’s Hospital
Baylor College of Medicine
Feigin Center, Suite 330
1102 Bates Street 
Houston Texas 77030

> On Jan 21, 2016, at 10:05 AM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:
> 
> 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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