[CIS-PAGID] Infant with autoimmune hepatitis and cytopenias

[Ashish Kumar]

At 4 months, normal immune globulins may not mean much. Absence of the
classic features doesn't rule out XLP or IPEX or for that matter even
WAS and hyper IgM (all likely in this male!). You have to keep all
options open. I would do flow for SAP, WASP, FOXP3 and CD107a; if he has
been immunized, measure the titers. Based on what you mention, he
clearly has a major lymphoproliferative disorder, the question is which
one of the above. No consanguinity and hypopigmentation I assume? 

 
Ashish Kumar, MD, PhD
Assistant Professor
Cincinnati Children's Hospital Medical Center
Cincinnati, OH
 

>>> "Cooper, Megan" <Cooper_M at kids.wustl.edu> 12/17/2011 12:42 PM >>>


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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