[CIS-PAGID] Infant with autoimmune hepatitis and cytopenias

[Kate Sullivan]

I would give a passing thought to APECED.
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


On Dec 17, 2011, at 12:42 PM, Cooper, Megan wrote:


> Hi Everyone,

>  

> I am seeing a 4mo male infant with severe autoimmune hepatitis, coombs+ hemolytic anemia, thrombocytopenia, and pneumonia (rhinovirus +).  He has no other obvious viral infection (CMV, EBV, HSV, etc) or congenital/metabolic liver problem.   His lymphocyte populations are normal.  There is a series of male and female infants reported with autoimmune hepatitis with autoimmune anemia/thrombocytopenia (Maggiore et al, Pediatrics, 2011 – attached) of unknown cause, treated with immune suppression and sometimes requiring liver transplantation.  Has anyone seen this clinical entity before and associated it with an immunodeficiency syndrome? 

>  

> I have thought about familial HLH (but ferritin is normal); ALPS (but young for these manifestations, sending DNTs on Monday); neonatal lupus (but ANA neg, no rash, and should be improving @ 4 months with nadir of maternal abs); XLP (clinical course doesn’t seem to fit); IPEX (but no enteritis or endocrine disease).

>  

> Very briefly his clinical data includes:

> ·         Giant cell hepatitis with elevated transaminases (1000’s) and positive smooth muscle antibody antibody

> ·         Coombs + anemia (Hgb 6) with evidence of hemolysis (LDH 602, haptoglobin <8)

> ·         Thrombocytopenia, Plt count as low as 30

> ·         Elevated ESR (128) normal CRP

> ·         Elevated WBC (15-20k with lymphocyte predominance)

> ·         Normal lymphocyte populations: counts – CD3 - 7733; CD4 - 5833; CD8 - 1764; CD19 - 3934; CD16/56 – 1628

> ·         Only 1% of T cells express HLA-DR

> ·         Normal Igs: IgG 908; IgA 80.3; IgM 134.1

>  

> Thanks for your input!

>  

> Megan

>  

>  

> Megan A. Cooper, MD, PhD

> Pediatric Rheumatology and Immunology

> Washington University School of Medicine

> Cooper_m at kids.wustl.edu

> Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M

> (lab office) 314-286-0262

> (fax) 314-286-2895

>  

>  

> 

> 

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> <Giant cell hepatitis & anemia_16 kids_2011.pdf>


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