[PAGID] ?Omenn's syndrome

[Junker, Anne]

Rhoda - If engrafted you'd expect to see at least 3 haplotypes, which
can be detected with molecular, not usually serologic, techniques.
Presence of both maternal haplotypes would be significant if the parents
weren't related.  We've had unfortunate cases of SCID with post
transfusion engraftment where we've been able to detect haplotypes of 2
different donors.  Canadian Blood Services is able to trace the donors
and do HLA testing if you need to confirm a non-maternal haplotype (that
takes time and won't help the baby, but completes a line of
investigation). 
As to an underlying cause, do you know her nation?  Our Canadian
Atlantic First Nations harbour RAG deficiency, and Artemis deficiency is
in the Dane-speaking Athabascan natives -- both causes of Omenn's
syndrome.
anne
 
Anne Junker, MD
Associate Professor, Division of Infectious & Immunological Diseases,
Children & Women's Health Centre Room K4-223
4480 Oak Street, Vancouver, BC, CANADA   V5H 3V4
Ph: 604-875-3591  Fx: 604-875-2414  email: ajunker at cw.bc.ca

	-----Original Message-----
	From: pagid-bounces at clinimmsoc.org
[mailto:pagid-bounces at clinimmsoc.org] On Behalf Of Rhoda Kagan
	Sent: Wednesday, November 30, 2005 11:06 AM
	To: pagid at clinimmsoc.org
	Subject: [PAGID] ?Omenn's syndrome
	
	
	We are trying to define the presumed immunodeficiency in this
child, but we believe that she may have partially engrafted maternal or
transfused cells. Thus we are looking for suggestions on how to best
characterize the immunodeficiency in this girl. 
	 
	1 y.o. Native Canadian girl with presumed PID.  Well until 6 mos
of age.

	*	At 6 mos , developed severe RSV bronchiolitis,
complicated by ARDS 
	*	At 8 months, developed Rotavirus infection, requiring
hospitalization for hydration. 
	*	At 9 months, admitted to hospital for bronchopneumonia. 
	*	At 10 months, developed a significant exfoliative
dermatitis, refractory to topical steroids. 
	*	At 11 months, diagnosed with cutaneous candidiasis 
	*	Re-hospitalized at 12 mos for treatment of the skin
condition. Noted to have generalized lymphadenopathy,
hepatosplenomegaly, alopecia, marked generalized exfoliative dermatitis,
pulmonary infiltrates on x-ray and lymphopenia.   The diarrhea also
persisted, but no new organisms or virus cultured.

	 During her hospitalizations, she received 2 blood transfusions
(neither was irradiated) and she required 2 courses of systemic steroids
(1 for the ARDS; the 2nd with the pneumonia). All investigations were
performed after the steroids and RBC transfusions.

	 Labs: Initial CD3 was markedly decreased, (0.120 X 10 9/L at
its lowest measurement), but subsequently normal (2.480 X 109/L) with
low B cells(0.217 X109/L).   T cell proliferation: 50% control, but PHA
SI ~100.  Total lymphocyte count is now in the normal range. Biopsy from
skin showed interface dermatitis with lymphocytic infiltration. LN
biopsy showed normal architecture, small germinal centers, decreased B
and T cell; immunostaining demonstrated that most of the lymphocytes
were T.   BAL cytology was predominantly T cells; staining for PCP was
neg. GI biopsies showed moderate duodenitis and mild colitis with
apoptotic cells suggestive of possible Gr I GVHD.   HLA typing done.
CD4 HLA typing pending.  Social issues preclude HLA testing of  the
child's father. Max IgE : 468.   Prior to steroids, periph eos were
1.6x109/L. 

	 We are wondering about a possible Omenn's Syndrome and how to
confirm the diagnosis if she has engrafted maternal or transfused cells.
Any other thoughts on diagnosis appreciated. 
	
	-- 
	Rhoda Kagan, MD
	Division of Allergy/Clinical Immunology
	Montreal Children's Hospital
	McGill University Health Centre 

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