[CIS PIDD] [cis-pidd] 2 yo w/increased double negative t-cells and mesenteric adenopathy

[Dr. Carsten Speckmann]

  Did you check for soluble Fas-Ligand (sFasL) and/or IL10?
In our prospective evaluation of >160 pts with autoimmune cytopenia and 
lymphoproliferation we found the COMBINATION of B12 and sFasL highly 
predictive for the presence of FAS mutations (these markers performed 
much better than DNT - unless DNT were very high): 
http://www.ncbi.nlm.nih.gov/pubmed/23850805
If locally not available, we are happy to assist with sFasL assessment 
in serum (which we measure by ELISA 1x/month on research basis).
Based on our observations we have developed a "FAS mutation calculator", 
which is also available online - www.alps.uni-freiburg.de.
This tool is meant to be used with 2 out of 3 markers (B12, sFasL and/or 
IL10). Maybe you find this helpful.

Kind regards, Carsten Speckmann/

/

-- 
Dr. med. Carsten Speckmann
Funktionsoberarzt/Consultant Immunologist
Zentrum fuer Kinderheilkunde und Jugendmedizin
Centrum fuer Chronische Immundefizienz - CCI
Universitaet Freiburg
Mathildenstr. 1
79106 Freiburg
Germany

phone: +49 (0)761-270 43010
mail: carsten.speckmann at uniklinik-freiburg.de
web: www.cci.uniklinik-freiburg.de



Am 21.08.13 05:10, schrieb Hillary Hernandez-Trujillo:

>

> I am looking for suggestions if there are other immunodeficiencies we 

> should look for (aside from ALPS) in a patient with increased double 

> negative T-cells and mesenteric adenopathy or if this sounds like it 

> might not be an immune problem at all.

>

>

>

> 2 year old female with several months of abdominal pain and 

> intra-abdominal lymphadenopathy. She was recently admitted for severe 

> pain, inability to eat, 17 days of vomiting, and hematochezia. Her 

> abdominal MRI showed significant mesenteric adenopathy with some lymph 

> nodes > 2 cm diameter. They appear to be matted around the mesenteric 

> artery thus revealing a possible etiology for her symptoms. She has no 

> cytopenia or splenomegaly. She has had 2.4 to 5% double negative 

> alpha/beta T-cells in peripheral blood and her Vitamin B12 level is 

> 1898. Her lymph node biopsy is not classic for ALPS as she has 

> apoptosis seen on histopathology and her paracortex is not massively 

> enlarged. She does have a mild increase in germinal centers.  Ferritin 

> and fibrinogen both normal with only a slight increase in 

> triglycerides.  LDH 364.  Her ALPS panel sent to Cincinnati Children’s 

> was not consistent with ALPS- TCR a/b DNTs of 2.4%, but lacked greater 

> than 60% B220 TCR a/b DNTCs, CD3+CD25+/HLA DR ratio < 1.0 or CD27+ C 

> cells < 15%.  Oncology has evaluated her with a normal AFP and beta 

> HCG. They do not think her labs or evaluation is consistent with 

> malignancy.

>

>

>

> She has been home from the hospital for 10 days, still with dry 

> heaving and gagging.  She tolerates liquids and pureed/soft foods 

> given very slowly throughout the entire day.  For weeks she has been 

> having profuse sweating episodes where she will be dripping.

>

>

>

> Immune work up when she was 18 months old due to repeated ear and 

> sinus infections showed a low normal IgG (460), normal IgA and IgM, 

> normal CD3 count, normal CD4 count, normal CD8 count, low normal NK 

> count (136), protective Rubeola and tetanus IgG, low Varicella IgG, 

> and 7 out of 14 strep pneumo serotypes > 1.3. She had a rash 

> consistent with chicken pox in a patch on her leg about a week after 

> vaccination- unclear if this was at the injection site or not.  Her 

> IgG now is 806, IgM 93, IgA 78, IgE 690. Lymphocyte mitogen 

> stimulation studies are pending.

>

>

>

> Additional past medical history- she has already had her adenoids 

> removed twice.  She has 2 older siblings- 5yrs and 8yrs who have also 

> had their adenoids removed 3 to 4 times each.  Both older sibs are 

> also prone to ear and sinus infections.

>

>

> Norovius and rotavirus- negative

>

> Stool culture- Negative for Salmonella, Shigella, Campylobacter and 

> E.coli 0157

>

> Tissue culture- negative

>

> Fungal culture- negative

>

> AFB culture/smear from lymph node- preliminary negative

>

> CMV PCR- negative

>

> C. diff- negative

>

> ESR normal

>

> CRP elevated at 5.6

>

> C3- 105

>

> C4- 15

>

> Eosinophils increased at 12.5% during recent admission (normal in past)

>

>

>

> She will be seeing Infectious Disease in follow up to rule out any 

> additional infectious causes.  We are also sending her to Rheumatology 

> for an evaluation as well.

>

>

> Thank you in advance for your thoughts and comments!

>

> Hillary

>

>

> Hillary Hernandez-Trujillo, MD

>

> Clinical Assistant Professor

>

> Department of Pediatrics

>

> University of Connecticut School of Medicine

>

> Division of Infectious Diseases and Immunology

>

> Connecticut Children's Medical Center

>

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