[CIS PIDD] [cis-pidd] 2yo with ectodermal dysplasia & MAI infection

[Cooper, Megan]

Hi All,

I am caring for a 2yo girl with ectodermal dysplasia and a history of a large MAI mediastinal mass s/p excision that has left her with some vocal cord paralysis and bronchial stenosis.  Prior to this she was pretty healthy, no ear or skin infections, a few mild viral infection during which she had a febrile response.

Genetic and immunologic testing has not shown a defect yet and I'm wondering if anyone had additional thoughts or would be interested in further exploring her disease on a research basis.  We haven't specifically sequenced IKBA (I don't think it was available 1 yr ago when we started testing), but have done a TLR assay and whole exome.  Her ectodermal dysplasia is relative mild but real - sparse hair, late tooth eruption, poor sweating.

Her genetic testing has included:
Negative targeted sequencing of: EDA1, EDAR, EDARADD, WNT10A, IKBKG
Clinical whole exome sequencing: essentially negative; potential het variants in Rag1, TLR1, and ALOXE3, all shared by parents

Immunology studies have included:
Normal CBC, IgG/A/M/E, CH50, NOB
All normal counts CD3/4/8/56/19, ratio of memory/naïve CD4s
Normal proliferation to mitogens
Protective titers to Hib, strep pneumo
MSMD test @ Wisconsin was normal (pSTat4 response to IL-12; pSTat1 with IFNG; normal expression of IL-12R)
Normal TLR assay (ARUP laboratories)
The only abnormality was a low C1q binding (48.4ug/ml (ref 83-125) - sent d/t one abnormal CH50, but subsequent CH50 & C4 were normal and no clinical correlate.

Thanks,

Megan


Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu<mailto:Cooper_m at kids.wustl.edu>
Lab website: http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/Labs/Cooper_M
(lab office) 314-286-0262
(lab fax) 314-286-2895




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