[CIS PIDD] [cis-pidd] Disregulatory Syndrome + masive splenomegaly + autoimmune hepatitis + cytopenias + pericarditis

[CIS-PIDD]

Dear collegues, we would appreciate your thoughts about this case:

17 years old girl. Full term baby with recurrent acute diarrhea since first
year of life.

At the age of 3, diagnosed with celiac disease is made by biopsy and
positive auto antibodies (MARSH III).

At 4 years of age, began with splenomegaly + anemia + thrombocytopenia
(with normal Bone marrow)

At the age of 5: Nephrytic syndrome.  Due to ASMA +, liver biopsy
suggestive of *Sclerosing cholangitis* with two normal Colangio resonances.

At the age of 6, he started treatment with methylprednisone and
azathioprine, suspended due to severe neutropenia at the age of 7.

10 years: duodenal video endoscopy revealed chronic duodenitis, MARSH1.
Video colonoscopy informed as nodular lymphoid hyperplasia.

New liver biopsy: *Sclerosing cholangitis* with cirrhosis evolution (Normal
colangio renonance). Recurrent thrush

12 years: Mononucleosis with (IgM + EBV). Later on time EBNA +.

14 years: In the context of increased liver enzymes and increased
hepatosplenomegaly, Restart aziatoprine treatment. 3 months later suspended
for neutropenia.

New Bone Marrow Aspiration revealed: Hypercellularity, myeloid hyperplasia
and megakaryocytic cells with abnormalities.

At 15 years (September 2014): hospitalization due to severe
ulcero-necrotizing periodontitis and pancitopenia with response to
Neupogen. Oral candidiasis treated with VO Fluconazol. Common germs swab
for herpes: Negative. (She required flexible ferules on her teeth due to
the great gum compromise)

Received IVIG  plus methylprednisolone pulses for 3 days and then MP 40 mg
/ day for thrombocytopenia.

Bone Marrow: cellularity ++++. Thrombocytopenia assumed as autoinmune.

At almost 16 years : weight 44 kg (percentile 3-10), Height 146.5 cm
(<percentile 3).

Abdominal ecography:  spleen 237 mm with enlarged liver. New liver Bx:
moderate inflammatory infiltrate with lymphocyte predominance and moderate
plasmocytes and eosinophils. Chronic moderate hepatitis - Knodell 11 (8 +
3). Asumed as Autoimmune hepatitis. Treatment with meprednisone 8 mg/day.
Sclerosing cholangitis discarded.

2 episodes of periodontitis without hospitalization in the last 2 years and
*Microsporidium* + in stool sample

2016: Ankles arthralgia. Eco Doppler: normal. New neutropenia episode with
ankles celullitis. Rheumatology Unit discarded rheumatologic pathology up
to date

Abdominal ecography: hepatomegaly with isolated adenomegalies and
gallstones. Cardiology evaluation: ECG with repolarization disorder. MNR:
pericarditis

Episode of adenophlegmon. Persist with splenomegaly, neutropenia and
monocitosis. New bone marrow: myeloid hyperplasia. Flow: 1.5% of mature
monocytes with monoblasts and pro-monocytes.

New eco cardiography: Left auricle dilatation, Ventricle with normal
diastolic function

May 2017: hospitalization due to neutropenia and severe preseptal eye
cellulitis.

*Immunological work up:*

·      Hipergammaglobulinemia > 2SD (IgG, IgA and IgM). Nowadays low IgE.

·      Good response to proteic and polysaccharide antigens.

·      C3/C4: previously normal. In actual lab low with normal CH50 and
AH50 (consumption?).

·      Autoantobodies: Positive ANA (low titer- dot pattern). Anti-Ro:
Positive , IgA ASCA: Positive. Low titers of IgA anti-transglutaminase and
Positive IgG anti-deaminated gliadin peptides.

·      Normal Lymphoproliferation assay with different mitogens (CFSE)

  *Lymphocyte subsets:* Lymphocyte count 1.320 cells/mm3

·        CD3: 72 %  / CD4: *50% (660)* / CD8: 21% / CD20: 25.5%  / CD56: *1.6%
(21) *(Normal dim/bright ratio)

·        Double Negative: 2 % in different opportunities

·        High Vitamine B12 dosage. Pending FASL

·        Alpha-Beta/Gamma-Delta: normal ratio

·        Low Naïve T cells with LT memory expansion. Low memory B cells
with slightly high transitional B cells.

·        High LTCD4 Th17+ cells (in different opportunities). Low FOXp3+
cells.

·        Normal CD25 up regulation assay.

·        Normal degranulation assay (CD107a)

·        Pending: NK cells cytotoxity assay.

*Treatment*

1.      TMS 5 mg/k/dose 3 times a week

2.      Vitamin D- Calcium

3.      Meprednisone 8mg/d

4.      Omeprazol

5.      Ursodesoxicolic acid

6.      Sirolimus 1-2mg/m2/d

*K-RAS / N-RAS (Possible diagnose??)*

Please, we will be happy of receiving your suggestions about any diagnostic
key and treatment.

Many thanks in advance
*María Soledad Caldirola*
Biochemsit, PhD fellow
Ricardo Gutierrez Children's Hospital
Buenos Aires, Argentina

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