[CIS PIDD] [cis-pidd] Newborn with positive for SCID

[David Buchbinder]

Dear Colleagues -  
 
We have a 7 week old male with a history of a positive newborn screen
for SCID.  He was born at 38 weeks and also noted to be IUGR with
anomalies as noted above. He is an only child, parents are Egyptian and
second cousins. The family history is unremarkable.
 
Neuro:  A head US, brain MRI, and EEG are all normal.
 
HEENT:  ear anomalies with pre-auricular ear tag. 
 
CV:  small muscular VSD,  CT angio with right-sided aortic arch with an
aberrant left subclavian artery as well as a large patent ductus
arteriosus resulting in a vascular ring.
 
Resp:  no choanal atresia, but pharyngeal hypotonia noted
 
GI:  imperforate anus, duodenal web (excised) – wound cellulitis
treated with antibiotics (complicated by drug associated rash), reflux
 
GU:  Right hydronephrosis and a non-visualized left kidney.
 
Endo:  Hypocalcemia and PTH levels suggestive of hypoparathyroidism.
 
Musculoskeletal: Segmentation abnormalities of thoracic spine are noted
with associated scoliosis and rib abnormalities.  bilateral thumb
abnormalities
 
Genetics:  Microarray 29.9 Mb LOH in the short arm of chromosome #2. 
This region was not deleted or duplicated.  Both copies at this region
look similar.  One gene PHF9 is in this region and is associated with
Fanconi anemia.  Given this information and some of his physical
findings and the notion of Fanconi anemia was brought up.  We have
attempted breakage studies twice, but did not have enough metaphases for
breakage analysis.  We are going to get skin fibroblasts and repeat
breakage studies.  Notably he is not cytopenic or macrocytic.  Most of
our Fanconi patients  have not had absent T cells.  We doubt Fanconi
anemia, but are still evaluating.    
 
Immune evaluation:
  
His newborn screen was positive for SCID.  No thymus noted on
radiologic imaging.
IgA < 7,  IgG 423, IgM 45,  IgE 21.8, no eosinophilia
CD3 22 cells/uL, CD4 22 cells/uL, CD8 22 cells/uL, CD19 1738 cells/uL,
NK 220 cells/uL
CD4/CD45RA and CD8/CD45RA both < 20 cells/uL
CD3/CD4/CD45RO and CD3/CD8/CD45RO both <20 cell/uL
Mitogens all low (PHA, PWM, Con A).
TCR Vb repertoire – some increased representation of families 14 and 17
with concomitant decreases in other families.
CD127/CD132 expression by flow – decreased expression overall on all
lymphocytes (but patient is lymphopenic).  Normal expression on T cells
(CD3 and CD3/4+), NK cells, and B cells.   Unlikely to be IL7R issue.  
 
We have a next gen sequencing panel pending for SCID (? Other forms of
T-B+NK+ SCID) as well as genetic analysis for CHD7 given the possibility
of “complete DiGeorge syndrome”.   
 
We are doing all of the standard precautions.  He is currently on
isolation, no breast feeding, bactrim, IVIG, fluconazole, etc.  
Questions – 
1) Does anyone have any other thoughts on what else should be done
diagnostically?  We feel that his phenotype is more consistent with a
complete DiGeorge syndrome.  
2) We did HLA typing as well – difficult search with only 5/6 unrelated
cords as a possibility at this point.   Is there any role for
hematopoietic cell transplant?  If so, how would you prep? 
3) Would consideration of a thymic transplant be a better approach for
this patient?
Thanks as always,
 
Dave and Wan-yin
 
David Buchbinder, MD
Wan-yin Chan, MD
CHOC Children's Hospital

CHOCLX-MGSM made the following annotations
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