[CIS PIDD] [cis-pidd] Interesting Case

[CIS-PIDD]

Dear Colleagues,

not sure Artemis is intact in your patient. In DNA Repair (Amst).
<http://www.ncbi.nlm.nih.gov/pubmed/?term=c.512C%3EG#> 2011 Jan 2;10(1):3-4
our group reported a Chinese patient with Omenn Syndrome. No mutations in
RAG were found. pSTAT5 was not available at that time. I suggest to go
ahead with radiosensitivity tests.

Best regards,

Luis Ignacio Gonzalez Granado
Immunodeficiencies Unit
Hospital 12 octubre
Madrid. Spain

2015-09-02 21:58 GMT+02:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

> Dear Group,
>
> We have a 3 year old female patient who has idiopathic T cell lymphopenia
> that was initially identified on NY state newborn screen and then verified
> by subsequent T cell numbers. Her usual range for absolute CD3 is 309-731 /
> μL, absolute CD4 198-465 /μL, and absolute CD8 109-270 /μL. B and NK cell
> counts are unremarkable. She has protective specific antibody responses to
> Hib, tetanus, diphtheria, and Hepatitis B. IgG, IgA, IgM are within normal
> range for age. Lymphocyte mitogen stimulation assays showed decreased
> proliferation to PHA, PWM, ConA. In general, she usually contracts upper
> respiratory infections (she has multiple positive respiratory viral panels
> –usually entero/rhinovirus) that occasionally lead to hospital admission.
> She has never required ICU admission however.  Her weight is at the 46%
> and height is at the 19%, and she is not falling off growth curves. ADA
> level was within normal range. FISH for DiGeorge was unremarkable.
>
> Genetic testing for SCID revealed the following:
>
>  -a heterozygous missense mutation of JAK3 c.3214G>A which has not been
> reported to be associated with disease.
>
> -a homozygous intronic mutation at JAK3 c.3096+18A>G.  This novel
> mutation has not been reported to be associated with any known SCID
> phenotype.
>
> -a heterozygous synonymous mutation detected in ADA c.534A>G reported not
> to be associated to SCID.
>
> -a heterozygous synonymous mutation detected in CD3E c.54C>T  reported
> not to be associated to SCID.
>
> -2 heterozygous missense mutations detected in DCLREC1C c.512C>G and
> c.728A>G reported not to be associated to SCID.
>
> -a heterozygous synonymous mutation detected in DCLREC1C c.643C>T
> reported not to be associated to SCID.
>
> -a homozygous intronic mutation detected in DCLREC1C c.780+10C>T  reported
> not to be associated to SCID.
>
> -2 heterozygous missense mutations detected in RAG1 c.2459A>G and
> c.746A>G- reported not to be associated to SCID. GroupHeading1End
> GroupHeading2Start
>
> GroupHeading2End Narrative4613f8be-6851-4898-981f-36667b5f984bFormEnd
>
> JAK3 signaling seems to be intact based on lymphocyte proliferation to
> anti-CD3, anti-CD3+anti-CD28, and anti-CD3 + IL2 which were all normal.
> Given her clinical history and genetic mutations, we were interested in
> hearing about any other recommendations for the management of this patient.
> Currently, she is on pneumocystis prophylaxis with atovaquone (she had
> persistent transaminitis with TMP-SMX). We look forward to any additional
> input. We thank you in advance for your feedback.
>
> Sincerely,
>
> Susanne LaBarba
>
> Fellow
>
> Artemio Jongco
>
> Attending
>
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