[CIS-PAGID] intestinal atresias with immune deficiency

[Sullivan, Kathleen]

The association of intestinal atresias with SCID is known.  It is really important to do any small bowel transplants after the BMT or in tandem to avoid GVHD from the intestinal transplant.


On Jun 20, 2011, at 2:25 PM, Green, Todd (CHP) wrote:


> Hello,

>  

> We are seeking input on the following case of a girl with a combined type picture. Thanks in advance for your time and thoughts:

>  

> 2yo female born at 35 wks as part of twin (fraternal) gestation.   The patient had dilated bowel loops on fetal US.  She was treated for presumed sepsis at birth with antibiotics.  A few days later was taken to OR and found to have dozens of intestinal atresias and webs now s/p multiple OR procedures with almost no small bowel remaining, on small bowel transplant list.  Currently TPN dependent.  She has had multiple admissions with fever (15-20 episodes) and variably has had central line infections, UTIs (on 2-3 occasions), G tube site infection, and most recently fungemia (candida).  Her most severe infection was E coli sepsis leading to ARDS, from which she recovered.  She has had coag neg staph, E faecalis, E cloacae, E coli grow from blood cultures in past but on several occasions her cultures have been negative.  No history of recurrent sino-pulmonary infections, otitis media, skin infections/abcesses.  She is not on steroids or immunosuppressives.  She is on methadone and also gets some IV atarax for itching.  No family history of known immunodeficiency though her mom thinks maybe she (Mom) was on IVIG for a year or so around age 1-2.  Mom currently has no issues with infections. Patient got the Varicella vaccine and subsequently developed chicken pox.  In addition she subsequently had an episode of shingles as well. 

>  

> Labs:

> Albumin 1.8-3 (currently 2.3); stool output less than 500cc per day, but higher in past

> QUIGS IgG 242 (Low end of normal is low-mid 400s for age), IgA 21 (nl), IgM<25  

>   

> Total CD3 135 /cumm                                                                                                                        

> Total CD4 108                                                                                                                  

> Total CD8 21                                                                                                                    

> Total B cells 85                                                                                                                    

> Total CD56 54   

> (all decreased)                                                                                                                                

>                                                                                          

> “Moderate” Cylex Response

>                               

> Mitogens  (from Mayo-- expressed as max % of prolif cells) :

> Viability Day 0 47.6 % (>75%)

> PWM CD45 8.8 (>4.5)

> PWM CD3 9.3 (>3.5)

> PHA CD45 4.4 (>49.9)

> PHA CD3 11.5 (>58.5)

>  

> 

> No protective antibody titers to tetanus, diphtheria, pneumococcus; No IgG to Herpes Zoster 

> HIV negative

>  

> Bone marrow biopsy was normocellular and no cytogenetic abnormalities identified

>  

> Uric acid low at 0.8 (1.9-5.4)

> Stool alpha 1 antitrypsin pending.

> CH50  normal

>   

> We considered protein losing enteropathy but with little stool output and an albumin that is not terribly low we felt it was less likely.  In addition we expect that with PLE she would have functional antibody responses and functional T cells, which is not the case.  Overall her pattern of infections is not consistent with a humoral deficiency.  In fact you could argue that all of her infections were nosocomial in nature (line infections, UTIs, fungemia on TPN) except for her varicella after vaccination.  Interestingly, when reviewing the literature we were able to find reports (<10) of multiple intestinal atresia associated with immunodeficiency.  Most die in infancy of sepsis.  It was suggested there was a possible hereditary component as one family had 2 siblings with the condition.  Wide range of immune defects reported from functional lymphopenia to SCID like with GVHD after a blood transfusion.  

>  

> She is symmetrically less than 3rd %ile for height and weight, not dysmorphic, and otherwise developing normally.   

>  

> We started on IVIG, PCP prophy with IV pentamidine (shortage of IV bactrim and has no small bowel for medication absorption).  Recommended no live vaccines in the future.   Have not yet assessed ADA/PNP activity, but wondering about that as well as looking for other leaky SCID etiiologies.  Any other thoughts? She is currently on the small bowel transplant list but the transplant team is  understandably concerned she won’t do well post transplant  and we all would like to clarify her immune defect if possible .  Thank you again for your help.

>  

> Best,

> Todd

>  

> Todd D Green, MD

> Assistant Professor of Pediatrics

> Division of Pulmonary Medicine, Allergy & Immunology

> Children's Hospital of Pittsburgh of UPMC

> One Children's Hospital Drive

> 4401 Penn Avenue

> Pittsburgh, PA   15224

>  

> tel 412-692-7885

> fax 412-692-8499

>  

> 


Kate Sullivan, MD PhD
Professor of Pediatrics
ARC 1216 Immunology CHOP
3615 Civic Center Blvd.
Philadelphia, PA 19104
(p) 215-590-1697
(f) 267-426-0363


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