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

[Brooks, Edward G]

Consider Omenn's syndrome.  Look for T-cell oligoclonality, hypomorphic RAG mutations

Edward G. Brooks, MD
UTHSCSA, Dept. of Pediatrics
Division of Immunology and Infectious Disease, Rm. 528L
7703 Floyd Curl Drive
San Antonio, Texas 78229-3900
brookse at uthscsa.edu
tel: 210-567-5250
fax: 210-567-6305

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>

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