[CIS PIDD] [cis-pidd] Hyper IgM

Wed May 25 21:39:11 EDT 2016

Ditto- I have a case of PIK3R1- exact same story. Kim

Kimberly Risma  MD PhD
Cincinnati Children's  Hospital

Sent from my iPhone

On May 25, 2016, at 9:20 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org<mailto:cis-pidd at lists.clinimmsoc.org>> wrote:

Prescott,

Thanks, this is very helpful.  We’re going to start arranging for testing him for the PIK3 pathway.

Best,
Ron

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Sent: Wednesday, May 25, 2016 4:35 PM
To: CIS-PIDD
Subject: RE:[cis-pidd] Hyper IgM

Hi Ron:  I am following two patients with Hyper-IgM, absent IgA/IgG and massive lymphadenopathy who have PIK3R1 mutations.

Prescott

T. Prescott Atkinson, MD PhD, Professor and Director
Division of Pediatric Allergy, Asthma & Immunology
University of Alabama at Birmingham
Tel 205-996-9582
Fax 205-975-7080
Cell 205-999-7688

From: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]<mailto:[mailto:cis-pidd at lists.clinimmsoc.org]>
Sent: Wednesday, May 25, 2016 5:38 PM
To: CIS-PIDD
Subject: [cis-pidd] Hyper IgM

Dear Colleagues,

I’d like your help regarding a patient of ours with hyper-IgM.

He presented to us at 2 years of age with diffuse lymphadenopathy (cervical, axillary, inguinal, hilar, mediastinal, retroperitoneal) and splenomegaly.  However, he did not have a history of recurrent infections.

·         IgG and IgA – undetectable

·         IgM = 338 mg/dL

·         Absent antibodies to Hib, tetanus and all pneumococcal serotypes despite full immunizations for age

·         Normal T, B and NK lymphocytes

·         Absent switched B cells

·         Pathology of a lymph node biopsy showed: “florid follicular hyperplasia with expanded germinal centers and tingible body macrophages”.  IgD present, IgM increased and IgG absent.  No malignancy and no infections.

Clinically, except for developmental delay, he is doing well.  His lymphadenopathy has improved / resolved, and his IgM has normalized since IVIG replacement was started.  He remains infection free.

·         Microarray was normal, and specifically there were no areas of increased homozygosity.

·         Flow cytometry (repeated x 2) for CD40 ligand showed: 85% expression on activated CD4 T cells, and 78% of the activated T cells bound recombinant human CD40 (normal >=80%).  Maternal testing showed 95% expression on activated T cells and 92% of these bound CD40.  This was interpreted as a hypomorphic CD40L expression.

·         Gene testing at GeneDx lab was normal for CD40 ligand, CD40, UNG and AICDA
I’d appreciate your thoughts regarding his diagnosis and what other diagnostic testing you would recommend.

Regards,
Ron

Ronald Ferdman, MD, MEd
Division of Clinical Immunology and Allergy
Children’s Hospital Los Angeles
Associate Professor Clinical Pediatrics
Department of Pediatrics
Keck School of Medicine
University of Southern California

---------------------------------------------------------------------
CONFIDENTIALITY NOTICE: This e-mail message, including any attachments,
is for the sole use of the intended recipient(s) and may contain confidential
or legally privileged information. Any unauthorized review, use, disclosure
or distribution is prohibited. If you are not the intended recipient, please
contact the sender by reply e-mail and destroy all copies of this original message.

---------------------------------------------------------------------

---

You are currently subscribed to cis-pidd as: patkinson at peds.uab.edu<mailto:patkinson at peds.uab.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396838.952f64cd9dda04997031bb8889426d86&n=T&l=cis-pidd&o=3660088<https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D96396838.952f64cd9dda04997031bb8889426d86-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3660088&d=CwMFAg&c=P0c35rBvlN7D8BNx7kSJTg&r=vj5Fk34uvUUbvj63OEZyz2102Qcs0hvzz1AqyRakXc4&m=UyJbhAfhq2hyxGuasd-JZ6cBEkCczVLQX2jA2_F_GY8&s=zhFqWlsz6XH8ngX0IeMStwvA8a9TFb6eAGRWgcq0vrI&e=>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3660088-96396838.952f64cd9dda04997031bb8889426d86 at lyris.dundee.net<mailto:leave-3660088-96396838.952f64cd9dda04997031bb8889426d86 at lyris.dundee.net>

---

You are currently subscribed to cis-pidd as: rferdman at chla.usc.edu<mailto:rferdman at chla.usc.edu>.

To unsubscribe click here: http://cts.dundee.net/u?id=101465267.4a3f90c20b1e1ef4762bed3e978e94ae&n=T&l=cis-pidd&o=3660154<https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D101465267.4a3f90c20b1e1ef4762bed3e978e94ae-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3660154&d=CwMFAg&c=P0c35rBvlN7D8BNx7kSJTg&r=vj5Fk34uvUUbvj63OEZyz2102Qcs0hvzz1AqyRakXc4&m=UyJbhAfhq2hyxGuasd-JZ6cBEkCczVLQX2jA2_F_GY8&s=CJNcm5eJ6Xb1vPerlhFcix2-t5zE5sfYnpMj1E550e4&e=>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3660154-101465267.4a3f90c20b1e1ef4762bed3e978e94ae at lyris.dundee.net<mailto:leave-3660154-101465267.4a3f90c20b1e1ef4762bed3e978e94ae at lyris.dundee.net>

---------------------------------------------------------------------
CONFIDENTIALITY NOTICE: This e-mail message, including any attachments,
is for the sole use of the intended recipient(s) and may contain confidential
or legally privileged information. Any unauthorized review, use, disclosure
or distribution is prohibited. If you are not the intended recipient, please
contact the sender by reply e-mail and destroy all copies of this original message.

---------------------------------------------------------------------

---

You are currently subscribed to cis-pidd as: kimberly.risma at cchmc.org<mailto:kimberly.risma at cchmc.org>.

To unsubscribe click here: http://cts.dundee.net/u?id=96396736.e32e3ae49d9f38a75bd0a6e261acb84c&n=T&l=cis-pidd&o=3660234<https://urldefense.proofpoint.com/v2/url?u=http-3A__cts.dundee.net_u-3Fid-3D96396736.e32e3ae49d9f38a75bd0a6e261acb84c-26n-3DT-26l-3Dcis-2Dpidd-26o-3D3660234&d=CwMFAg&c=P0c35rBvlN7D8BNx7kSJTg&r=vj5Fk34uvUUbvj63OEZyz2102Qcs0hvzz1AqyRakXc4&m=UyJbhAfhq2hyxGuasd-JZ6cBEkCczVLQX2jA2_F_GY8&s=GTfxa_BOUfIRj8_P3nmsJYnGJ6sUqx1N6ibg87ItRJ8&e=>

(It may be necessary to cut and paste the above URL if the line is broken)

or send a blank email to leave-3660234-96396736.e32e3ae49d9f38a75bd0a6e261acb84c at lyris.dundee.net<mailto:leave-3660234-96396736.e32e3ae49d9f38a75bd0a6e261acb84c at lyris.dundee.net>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=3660267
or send a blank email to leave-3660267-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20160526/65eca5ae/attachment-0001.html>