[CIS PIDD] [cis-pidd] a 3 mo boy with cytopenia, hepatosplenomegaly, recurrent skin rash and fever since birth

[CIS-PIDD]

Dear All,

I have a question about a 3 mo old  twin boy with pancytopenia,
hepatosplenomegaly, recurrent skin rash and fever since birth

-1st baby of twin (the other twin girl is health)
born at 33+6/7 weeks at 1,560 g, by emergency C-sec d/t maternal HELLP
syndrome

- Maternal hx: significant for preeclampsia (HELLP syndrome) and
oligohydroamnios, RH- AB blood type, received RhoGAM twice d/t positive
indirect Coombs test -> became negative before delivery. Also received
steroid

- At birth CBC was 5.8-14.7-83K and hepatosplenomegaly was noticed.
*He developed rash on post natal age 7 day with elevation of CRP.* Since
then, he has recurrent rash, fever, and CRP elevation (not periodically but
almost every somewhere 1-2 week)
- *He continued to have hepatosplenomegaly and cytopenia (mainly
thrombocytopenia around 20K, WBC counts are up and down from 2 to 5x10^3)
. *
- His CBC continue to show many immature cells, increased eosinophils,
atypical lymphocytes, but no blast forms.
- It seems like the WBC and CRP counts rise when there is fever and rash.
The rash is all over the body, involving extremities, face and trunk.Rashes
are macular patch like ill defined rash but
*no pustules or they are not thrombocytopenia related petechiae.*

- Extensive work-up for congenital infections for TORCH, syphilis, HIV, etc
etc in two different hospitals multiple times: *negative*
Mom has cat ownership during pregnancy but toxo tests in mom and the baby
are repeatedly negative.
- Additional work-up for any infection (bacterial, virus, fungus including
PCP, mycobacterium) every time for rash/high CRP and fever: *negative*,
except recent rhinovirus infection that he got from his mother who returned
from visiting home. So far no invasive infection or confirmed pathogen from
culture, PCR, BM, skin bx staining.

-  immune work-up lab done around  2 months old in Feb
  IgG 1377, IgA 118, IgM 123 mg/dL
  IgE 181 -> 465 IU/mL
  C3 64 ->97, C4 4->7.3 mg/dL, CH50 10-> 29 U/mL
- He did not receive IVIG at all so far.

- lymphocyte subset at 2 month old
CD3 1207 (80%), CD4 935 (62%), CD8 272 (18%), CD19 166 (11%), CD16+56+3-
106 (7%)
- DNT cells to check for ALPS, 0%
- neutorphil burst test, normal
- direct coombs test, positive
- anti-RNP/Anti-Sm, negative
- anti neutrophil Ab, anti platelet antibody: negative

- BM exam done twice, non diagnostic, n*o malignancy, * trilineage
hematopoiesis observed
- Commercial NGS was sent out and genes were analyzed for SCID, WAS, hyper
IgE, bone marrow failure, glycogen storage diseases, ALPS, congenital HLH,
IPEX, DIRA etc: *non-diagnostic *
- brain normal, no calcification, no seizure
- eyes normal

- The baby grew relatively well now doubled the body weight and now 3.2 kg.
Development appears normal.
- We started steroid at a dose of 2 mg/kg about 10 days ago becuase at that
time the baby had fever, rash and liver enzyme up to 700 and he appeared
responding to steroid. He is now tapered to 0.5mg/kg but now the fever and
rash come back. Not sure but it appears that it is just a time for the
fever and rash come back.
- We plan to perform a liver bx next week. Ultrasound exam showed no
significant findings ( no nodules or no micro abscess like lesions) except
persistent hepatosplenomegaly.

At this point, the baby is dependent to platelet and RBC transfusion.
Congenital infection appears less likely after those extensive work-up and
in a setting of the other twin is perfectly healthy.

I hope to get some more information from liver biopsy. So, here are some of
my questions and I hope to get some other feedback also for diagnosis and
management. Would this be something auto-inflammatory or autoimmune
condition that I pursue further? Does anybody have suggestions on high IgE?
Why the skin rash and fever come and go once in a a while? What should I do
with steroid?  Will splenectomy help the baby out of this situation?

I apologize for this long description above. I would appreciate your
feedback or suggestion. Thank you.

Best wishes,

YaeJean



Yae-Jean Kim, MD, PhD

Associate Professor
Division of Infectious Diseases and Immunodeficiency
Department of Pediatrics,
Samsung Medical Center,
Sungkyunkwan University School of Medicine,
81 Irwon-ro, Gangnam-gu, Seoul, South Korea

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