[CIS PIDD] [cis-pidd] Interesting Case

Fri Sep 4 09:27:43 EDT 2015

Dear Dr. Notarangelo,

Thank you for your response! We are definitely interested in performing analysis of the mutations at the protein level and also to look at Il-2 induced pSTAT5 by flow. Where can we send blood for these analyses? Also how much blood and what color tube is necessary? We greatly appreciate your assistance in this matter.

Sincerely,

Susanne LaBarba

________________________________
From: CIS-PIDD [cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, September 02, 2015 4:11 PM
To: CIS-PIDD
Subject: Re: [cis-pidd] Interesting Case

Interesting case! Because there are several hypomorphic RAG and Artemis cases (for the latter, even with normal B cell count and intact T cell proliferation), it would help if you could report the mutations at the protein level (not just nucleotide). My group has tested quite a number of RAG and Artemis variants, and we would be happy to tell you whether these variants have normal activity or not. For JAK3, even better would be to look at IL-2 induced pSTAT5 by flow.
Was this patient born to consanguineous or non consanguineous parents? Any dysmorphisms? Was CGH array performed?

I would recommend continue monitoring and I agree with prophylaxis.

Best regards

Gigi

Luigi D. Notarangelo
Turki bin Abdel-Aziz Al-Saud Professor of Pediatrics
Harvard Medical School
Division of Immunology
Boston Children's Hospital
Karp Research Building, room 10217
1 Blackfan Circle
Boston, MA 02115
USA

tel: (617)-919-2277
FAX: (617)-730-0709

From: CIS-PIDD
Reply-To: CIS-PIDD
Date: Wednesday, September 2, 2015 at 3:58 PM
To: CIS-PIDD
Subject: [cis-pidd] Interesting Case

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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