[CIS-PAGID] a newborn with an extensive skin lesions

[christian.wysocki at yale.edu]

Would this not be a great case for TREC analysis?  A rapid, PCR-based 
assay.  I
would think that, based on available literature, if TRECS are absent, this
would be extremely informative and strongly support this as Omenn/Leaky
SCID/maternal T cell engraftment.  Would at least lead one quickly in the
direction of immune deficiency and away from autoinflammatory
disease/vasculitis.
-Chris Wysocki
A/I fellow, Yale

Quoting "Verbsky, James" <jverbsky at mcw.edu>:


> YaeJean

>

> Do you have CD4 RO%..should be high with leaky scid, Omenn, maternal 

> engraftment, etc

>

> Does the child have bone lesions?  NOMID and IL1 receptor antagonist  

> deficiency presents at birth with rash (usually pustular and full of 

> PMN).  THe rash and inflammatory markers are suggestive but the 

> lymphocytic infiltrates on bx doesnt really fit.  Regardless, I have 

> tried anakinra in cases like this with worsening disease without a 

> diagnosis..its short acting and relatively safe.  If it works..it is 

> ususally dramatic.  It there is no effect after 2-3 days..it can be 

> stopped.

>

> Best

>

>

> James W. Verbsky M.D./Ph.D.

> Assistant Professor of Pediatrics and Microbiology and Molecular Genetics

> Medical College of Wisconsin

> Children's Corporate Center

> Pediatric Rheumatology, Suite C465

> 9000 W. Wisconsin Ave., PO Box 1997

> Milwaukee, WI 53201-1997

> (work) 414-266-6585

> (pager) 414-907-3134

> (fax) 414-266-6695

> jverbsky at mcw.edu<mailto:jverbsky at mcw.edu>

> verbskyj at yahoo.com<mailto:verbskyj at yahoo.com>

>

>

>

> ________________________________

> From: pagid-bounces at list.clinimmsoc.org 

> [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of YaeJean Kim

> Sent: Thursday, July 07, 2011 7:56 AM

> To: pagid

> Subject: [CIS-PAGID] a newborn with an extensive skin lesions

>

> Dear All,

>

> I have a question about a neonate with severe skin lesions.

>

> 40 days old female full-term baby who presented with whole body rash 

> since day 3 after birth.

> She has been treated multiple rounds of antibiotics for r/o sepsis 

> (leukocytosis and high CRP, no pathogen, skin lesion) and was 

> transferred to our NICU.

>

> No significant birth hx (full-term, 2.8 kg, vaginal delivery), or 

> family hx of PID.

>

> On arrivail, extensive skin lesions and striking leukocytosis continued

> 6/14/2011 WBC 39.4 (Myelocyte 10, metamyelo 8, band 4, seg53, lymph 

> 18, mono 6, atypical lymph 1, eos 0), Hb 10, plt 99

> 7/2/2011   WBC 56.5 (myelo 9, metamyelo 9, ban 7, seg 59, eos 1, 

> lympho 12, mono 11),  Hb 8.9, Plt 55K

> HIV-, VDRL-

>

> -> recently fever continued, developed mild hepatosplenomegaly

>

> DHR normal

>

> IgG 1090 mg/dL (<- IVIG was given at other place)

> IgA 5 mg/dL

> IgM 8 mg/dL

> IgE 161.5 IU/mL

> CH50 85 U/mL

>

> lymphocyte subset

> =========================

> Parameter             Test value            reference   for her age

>  (MoAb)              %  Count(/ul)                            %       

>               count

> --------------------------------------------

> T  (CD3)                 88   5,974                  72% (60-85%) ,   

> 4,600 (2,300-7,000)

> T4 (CD4)                72   4,867                  55% (41-68%),    

> 3,500 (1,700-5,300)

> T8 (CD8)                14     959                    16% (9-23%),    

> 1,000    (400-1,700)

> T4/T8 ratio           5.08

> B  (CD19)                  1      74                     15% (4-26%)  

>     1,000 (600-1,000)

> NK (CD16+56+3-)  10     664                   8% (3-23%)        500 

> (200-1,400)

> NKT(CD16+56+3+)  1      74

> ---------------------------------------------

>

> Bone marrow, non-diagnostic, RF (-)

>

> skin bx showed lymphocyte infiltraion in vascular wall and dermis -> 

> vasculitis, no organisms (fungus -, bacteria -, mycobacteria -, HSV 

> -, adenovirus -, CMV -, EBV -)

>

> At first, I thought of hyper IgE then I was suspecting SCID. B cell 

> is very low but T cells are within normal. I was also thinking the 

> possibility of maternal engraftment, but there is no eosinophilia 

> although she has IgE already 161. Should check for chimerism?

>

> Her condition is waxing and waning and deteriorating gradually.  Skin 

> lesions are now quite nodular.. we are quite concerned about this 

> baby and I hope to get some help from you for further work-up.

> I would appreciate any suggestion.

>

> YaeJean

>

>

>

>

>

> --

> Yae-Jean Kim, MD

> Assistant Professor

> Division of Infectious Diseases

> Department of Pediatrics

> Sungkyunkwan University School of Medicine

> Samsung Medical Center

> 50 Irwon-dong Gangnam-gu

> Seoul, Korea

> Tel)  +82-2-3410-0987  Fax) +82-2-3410-0043

> yaejeankim at skku.edu<mailto:yaejeankim at skku.edu>

>

>