[CIS-PAGID] Infant with autoimmune hepatitis and cytopenias

[Verbsky, James]

Megan

Did you do mitogens?  I agree, IPEX would be unusual without any GI issues, but still possible.  Did you do mitogens??  Was thinking Ora/Stim1 or CD25 deficiency..should have abnormal mitogens.




James Verbsky MD/PhD
Associate Professor of Pediatrics and Microbiology and Molecular Genetics
Medical College of Wisconsin
Milwaukee, WI  53226
________________________________________
From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org] On Behalf Of Cooper, Megan [Cooper_M at kids.wustl.edu]
Sent: Saturday, December 17, 2011 11:42 AM
To: pagid at list.clinimmsoc.org
Subject: [CIS-PAGID] Infant with autoimmune hepatitis and cytopenias

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




The materials in this email are private and may contain Protected Health Information. If you are not the intended recipient, be advised that any unauthorized use, disclosure, copying, distribution or the taking of any action in reliance on the contents of this information is strictly prohibited. If you have received this email in error, please immediately notify the sender via telephone or return email.