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

[CIS-PIDD]

Dear Dr. Leiding,

Interestingly, we recently came across a very similar patient with
intermittent thrush, oral ulcers, angular cheilitis with persistent
panlymphocytopenia. Similarly, he also had shingles reactivation,
hypothyroidism on replacement and GI symptoms since childhood. In the end
he was diagnosed with STAT1-GOF.

Perhaps you could consider including STAT1 in your workup.

Best regards,

Dr. Philip Li
Division of Rheumatology and Clinical Immunology
Department of Medicine
Queen Mary Hospital, Hong Kong.



On 31 August 2016 at 00:04, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:

> Hi Joe:
>
>
>
> Albumin – normal
>
> A1 antitrypisn not elevated
>
> No peripheral edema
>
>
>
> Jen
>
>
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
> *Sent:* Tuesday, August 30, 2016 11:50 AM
> *To:* CIS-PIDD
> *Subject:* RE:[cis-pidd] patient with profound lymphopenia
>
>
>
> Good Morning.
>
>
>
> Is there evidence of GI loss (serum albumin, stool A-1-AT, peripheral
> edema)?
>
>
>
> Joe Church
>
> Children’s Hospital Los Angeles
>
>
>
> *From:* CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org
> <cis-pidd at lists.clinimmsoc.org>]
> *Sent:* Tuesday, August 30, 2016 8:37 AM
> *To:* CIS-PIDD
> *Subject:* [cis-pidd] patient with profound lymphopenia
>
>
>
> 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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