[CIS PIDD] [cis-pidd] 8yo girl with refractory IBD advise on further immunosuppressive treatment

[Dr. Carsten Speckmann]

I would evaluate the exome data for TTC7A, MVK and LRBA. The following review provides an extensive list of additional  genes: http://www.ncbi.nlm.nih.gov/m/pubmed/24203055/ 

You may also consider X-linked genes (eg XIAP) and the possibility of skewing towards the affected allele. Leaky SCID may also only present with early onset IBD (naive T cells normal? lymphopenia?).
Regards, Carsten Speckmann

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Sent from my phone - please excuse the brevity and possible typos

Dr. Carsten Speckmann
Pediatrician
Group Leader: Benign lymphoproliferative disorders
Pediatric Hematology and Oncology
and Center for Chronic Immunodeficiency
University of Freiburg
Germany
phone: +49 (0)761 270 43010
fax: +49 (0)761 270 45990
www.uniklinik-freiburg.de/cci/studien/alps.html

> Am 08.12.2014 um 01:17 schrieb Jane Peake <j.peake at uq.edu.au>:
> 
> I have recently been asked to see this girl that has been under the care of gastroenterology colleagues. They are asking what further immunosuppression may be appropriate to control her disease. She has responded poorly to previous immunosuppressive treatment trials. Any thoughts would be very much appreciated.
> Kind regards
> Jane
> 
> 8 yo girl with early onset aggressive IBD (refractory proctitis). 
> Blood has been sent for whole exome sequencing.
> 
> Background:
> Multiple therapies trialled for aggressive proctocolitis including surgical and maximal medical therapies
> History:
> Age of onset at 5 years. Severe diarrhoea with blood and mucus, tenesmus and faltering growth
> - Early colectomy w ensuing ileostomy and a number of exploratory laparotomies for suspected fistulisation/collections around age 6-8y
> - limited response to multiple immune modulators including high dose steroids ( IV methylpred and oral pred), Sulfasalazine, AZT, 6MP
> - Failed trials of infliximab (x4) limited / no response and complicated by intercurrent severe aphthous ulcerations and buccal/pharyngeal mucositis
> - Possibly some mild response to azithromycin augmented with doxycilicine in recent past (last year) but no significant clinical improvement w ongoing proctitis
> - Most recent endoscopy revealed marked lymphocytic oesophagitis with aphthous ulceration likely correlated w active IBD
>  
> Systems review:
> Aphthous ulcerations as above. No arthritis. No skin rashes No description of uveitis or eye involvement, No bruising, No lymphadenopathy or hepatosplemegaly
> 
> Progress:
> Most recent course of disease complicated by ~12 weeks of giant aphthous ulceration to buccal mucosa, active proctitis w suspected fistulisation and associated growth faltering/weight loss
> 
> Currently inpatient
> - MRI shows probable coloenteric fistula and awaiting surgical opinion
> - Commenced on bactrim for eradication of MRSA on buccal/tongue
> - Commenced on azithromycin as immune modulator
> - Oral dexamethasone washes to manage buccal disease
> - No other immune suppression – awaiting possible further surgery
> - Still on full enteral diet but clearly very limited solid/fluid intake w ensuing weight loss and crossing centiles
> 
> 
> Immune function:
> No evidence of other immune deficiency, autoinflammatory syndrome or other autoimmune condition 
> -moderate hypergammaglobulinaemia(IgG:15 (7-15), IgA1.8 (0.7-2.5), IgM 0.9 (0.4-2.3)) but HIV negative
> -Normal isohaemagluttinins 64
> -Normal vaccine titers (tetanus)>1.11
> - normal CBC
> - Normal lymphocyte subsets (CD3: 1.49 (0.6-2.4), CD4:0.96 (0.4-1.6), CD8 0.5 (0.1-1.0), CD19 0.59 (0.08-0.58), CD56 0.34 (0.05-0.5),
> - Normal ACE level
> -Normal complement levels C3 1.22(0.9-1.8) and C4:0.35 (0.1-0.4) and CH50>1000 (>520)
> -Negative ANA, ENA, dsDNA, antiSMA, anti LKM
> -.Positive ASCA IgA 120 (<20), ASCA IgG 57 (<20) and PR3-ANCA: 72 (<20)
> -Normal ferritin (requires regular iron infusions) but variable elevation on CRP 10-20 and ESR ~30
> -No HLAB27 or HLAB51 testing yet
> -Hypercellular bone marrow with reactive lymphocytes and some plamacytoid forms
> ---
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