[CIS-PAGID] Infant with autoimmune hepatitis and cytopenias

[Cooper, Megan]

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<mailto: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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