[CIS PIDD] [cis-pidd] Interesting Case

Fri Sep 4 13:51:43 EDT 2015

Dear Dr. Granado,

I thank you for your input regarding our patient. I will be sure to read your article. We will proceed with further testing in our patient.

Sincerely,

Susanne LaBarba

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, September 02, 2015 5:02 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Interesting Case

Dear Colleagues,
not sure Artemis is intact in your patient. In DNA Repair (Amst).<https://urldefense.proofpoint.com/v2/url?u=http-3A__www.ncbi.nlm.nih.gov_pubmed_-3Fterm-3Dc.512C-253EG-23&d=AwMFaQ&c=vq5m7Kktb9l80A_wDJ5D-g&r=kM9wgh5c2ESBe4mWK316Sg&m=HEVcg2po0_drY0d1Zc6cH372aBWKLROlYfGM8VjXeTc&s=wwJbJxA5Hc1oV8ExeG6EHRJUqYye2_NHNxJtw_z81EQ&e=> 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<mailto: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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