[PAGID] ?Omenn's syndrome

[Rhoda Kagan]

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(0.217X10
9/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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