[CIS PIDD] [cis-pidd] Infant with severe enteropathy and immune deficiency

[Elena Hsieh]

We had a case at Stanford in July of last year.  He was a young 6mo male infant, preterm, induced because of very low birth weight.  He was TPN dependent since close to birth, without any improvement after treatment with tacrolimus, solumedrol and sirolimus.  His Foxp3 expression was low which made us think of IPEX initially.  He was eventually found to be homozygous for a shared nonsense mutation (stop codon) in exon 8.   Unfortunately he passed away at the age of 8mo, although from causes unrelated to the disease itself.

Thanks.

Elena


On May 1, 2013, at 6:34 AM, "Cunningham-Rundles, Charlotte" <charlotte.cunningham-rundles at mssm.edu> wrote:


> Thanks for the update! 

> 

> 

> On 4/30/13 7:15 PM, "Jane Elizabeth Peake" <j.peake at uq.edu.au> wrote:

> 

>> Hi All

>> I sent this case around a year ago and now have a confirmed diagnosis of Tricho-hepatic-enteric syndrome. He has a compound heterozygosity for 2 mutations in TTC37, one non sense mutation and one frameshift resulting in premature stop codon. I thought that people might be interested to hear the outcome of this fascinating and difficult case. If anyone has any other cases of THE syndrome, I would be interested to hear more about their patients and outcomes.

>> Cheers Jane

>>  

>> Review paper of the syndrome

>> http://www.ojrd.com/content/pdf/1750-1172-8-5.pdf

>>  

>>  

>>  

>> -----Original Message-----

>> From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Jane Peake

>> Sent: Wednesday, 4 April 2012 6:16 PM

>> To: pagid at list.clinimmsoc.org

>> Subject: [CIS-PAGID] Infant with severe enteropathy and T cell defect

>>  

>> Hi

>> I was wondering if anyone would have any ideas regarding further investigations, diagnosis or management of this infant. 

>>  

>> 13/12 old male

>> Born 30/40 Prem, 1/52 neonatal ICU requiring CPAP. NICU stay complicated by a staph infection and very slow to gain weight. Discharged home at term from SCN at 1.9kg.  Failure to thrive since then. Multiple admissions to provincial hospital in first couple of months for diarrhoea and poor weight gain. Otherwise reasonably well, with no further infections and was attending day care 2-3 times per week for 2 months. Couple of mild episodes of oral thrush responded to topical therapy.

>> At 9 months had rhinovirus bronchiolitis then LRTI with moraxella and Haemophilus Influenzae on NPS.  Continued poor weight gain on amino acid formula and started on TPN at 9months of age. (Weight 4.3kg <<3rd centile).  Gained weight on TPN with improvement in diarrhoea.  Weight plateaued when TPN weaned and diarrhoea returned when NG feed rate increased beyond >15ml/hour. Has remained TPN dependent.

>> At 10/12 had CVL infection with enterococcus faecalis and profoundly neutropaenic requiring GCSF.  BMA was consistent with early marrow regeneration following a myelotoxic insult(eg infection). Neutropenia recovered after one month and has not recurred.

>> At 11/12 had a pseudomonas CVL infection - requiring PICU admission.  Recovered quickly. WCC rose, however did not make a CRP response to these infections.

>>  

>> Investigations:

>> IgG 1.6g/l (3-13) IgA   0.07g/l (0.3-0.9) IgM   0.5 (0.5-1.6)

>> No specific antibody responses of any kind even following repeat booster immunisation

>>  

>> CD3 6170 (72%) CD4 5410 (63%) CD8 860 (10%) CD19 1860 (22%) CD56/16 470 (6%)

>> CD4+CD27+CD45RA+ 91%

>> Normal numbers of CD19+ B cells with normal proportion of immature B cells.  Reduced proportion of memory B cells and markedly reduced proportion of isotype switched memory B Cells.

>> T cell proliferation: PHA - normal x 3, No antigen response to candida (x3), nor tetanus following immunisation       

>> CD40L expression normal

>> Foxp3 expression normal

>> Chromosomes - 46XY.           

>> Gut biopsy - Evidence of apoptosis, villous blunting, no intra-epithelial lymphocytosis, acute inflammation or granulomata seen and very few plasma cells.  No features of a specific enteropathy identified. 

>>  

>> Mother had a brother and an uncle who were both born very premature and died in first few days thought to be as a result of extreme prematurity. One well sister. He has 8 normal teeth and thin "baby" hair. Skin completely normal

>>  

>> I am wondering about possible NEMO and seeing if I can get this done locally but  would appreciate any other thoughts Thanks kindly Jane

>> 

>>  

>> Dr Jane Peake

>> Paediatric Immunologist and Allergist

>> Senior Lecturer

>> University of Queensland

>> level 3 Foundation Building

>> Royal Children's Hospital

>> Herston Rd, Herston QLD 4029

>> Tel (61 7) 33655333 or 36365059

>> Fax (61 7) 33655455

>>  

>>  

>> ---

>> 

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> ---

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