[CIS PIDD] [cis-pidd] patient with profound lymphopenia

[CIS-PIDD]

Hi all:

I could use some help with this interesting patient. He is a 20yo Caucasian male who is developmentally normal, but very Marfanoid appearing. He has had persistent lymphopenia nad hypogammaglobulinemia since coming to attention 5 years ago, but with normal T cell responses to mitogens and antigens. Other manifestations have included profound hypothyroidism (TPO and anti-thyroglbulin were negative) associated with brain lesions that corrected with initiation of thyroid hormone replacement. He has diarrhea as well but has never had a colonoscopy ( he is not real willing). He lastly has severe apthous stomatitis that is intermittent. He has never been neutropenic.

His evaluation is as follows:
CD3 260 CD4 98 CD8 138 CD56 93 CD19 <1
IgG 580 (on Ig replacement),  IgA <7,  IgM <7

BTK expression, CD40L expression by flow normal
Elevated ab DNT's, Fas apoptosis assay normal.
Sequencing for the following was normal: ADA, AK2, CD3D, CD3Z, DCLREK, IL2RG, IL7R, JAK3, NHEJ1, PNP, PTPRC, RAC2, RAG1, RAG2, RMRP, ZAP-70, and CTLA-4.

He has not had major infections but is on anti-microbial prophylaxis. He has had some chronic sinusitis, shingles once, and thrush on occasion.

I am at a loss as to what to do next in his evaluation short of WES. He is not real interested in being aggressive, as for the most part, he has been quite well.

Thanks for any guidance,
Jen Leiding


Jennifer Leiding, MD
Assistant Professor
University of South Florida
Department of Pediatrics
Division of Allergy, Immunology, and Rheumatology
Children's Research Institute
140 - 7th Avenue South Box 9680
St. Petersburg, Florida 33701
Phone: 727.553.1304
Fax: 727.553.1295


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