[PAGID] ?Omenn's syndrome

[Rhoda Kagan]

The pt is Micmac. are you aware of RAG defic in this population?  Rhoda

On 11/30/05, Junker, Anne <ajunker at cw.bc.ca> wrote:
>
> 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
>
>


--
Rhoda Kagan, MD
Division of Allergy/Clinical Immunology
Montreal Children's Hospital
McGill University Health Centre
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