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

[Brooks, Edward G]

We reported a somewhat similar case in 1994 (Clin Immunol Immunopath 71(1) pp. 44-52, 1994).  She initially presented  in infancy with candida parapsilosis sepsis and, subsequently,  a skin infection with M. chelonii and had an immune profile more closely resembling SCID. She had robust NK numbers and function and despite low T-cell numbers in vivo, but her T-cells proliferated vigorously in vitro and had robust cytotoxic function.  The family was not interested in BMT and she was treated with immune globulin and actually did quite well. By 5 months of age her PHA response normalized. I understand from my colleague who followed her for many years that her immunity eventually normalized and had no further immune deficits nor recurrent infections.  We considered this a case of "post-natal" development of immunity due to thymic hypoplasia (scant thymus tissue by MRI) related to her ectodermal dysplasia.  No genetic testing in 1994!

Edward Brooks, MD
UT Health Science Center at San Antonio
STRF Microbiology MC 8259
8403 Floyd Curl Drive
San Antono, TX 78229
Tel: 210-562-4180
Fax: 210-562-4191

From: Cooper, Megan [mailto:Cooper_M at kids.wustl.edu]
Sent: Wednesday, May 21, 2014 4:22 PM
To: CIS-PIDD
Subject: [cis-pidd] 2yo with ectodermal dysplasia & MAI infection

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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