[CIS PIDD] [cis-pidd] Infant with severe diarrhea and pseudomonas infection

Mon Jan 12 17:10:11 EST 2015

Interleukin 10 is on chromosome 1q32.1
Best, Bodo
****************************************
Univ.-Prof. Dr. med. B. Grimbacher

Scientific-Director
CCI-Center for Chronic Immunodeficiency
UNIVERSITÄTSKLINIKUM FREIBURG
Tel.: 0761 270-77731  Fax: -77744
Engesserstraße 4, 79108 Freiburg
bodo.grimbacher at uniklinik-freiburg.de
www.uniklinik-freiburg.de/cci

Von:  "Cooper, Megan" <Cooper_M at kids.wustl.edu>
Antworten an:  CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Datum:  Monday 12 January 2015 22:06
An:  CIS-PIDD <cis-pidd at lists.clinimmsoc.org>
Betreff:  RE:[cis-pidd] Infant with severe diarrhea and pseudomonas
infection

Hi - I imagine you already did CGD testing, but with homozygosity of
chromosome 1 (uniparental disomy or distant consanguinity) a recessive NCF2
mutation could cause symptoms consistent with this presentation, not sure if
it is in the region of homozygosity.  You might even want to go back and
look @ the DHR flow to make sure it is truly normal if it was done.

Best,

Megan

Megan A. Cooper, MD, PhD
Assistant Professor, Department of Pediatrics
Division of Rheumatology
Washington University School of Medicine
Cooper_m at kids.wustl.edu
Lab website: 
http://research.peds.wustl.edu/Default.aspx?alias=research.peds.wustl.edu/La
bs/Cooper_M
(lab office) 314-286-0262
(lab fax) 314-286-2895

From: Haines, Kathleen M.D. [mailto:KHaines at HackensackUMC.org]
Sent: Monday, January 12, 2015 2:55 PM
To: CIS-PIDD
Subject: [cis-pidd] Infant with severe diarrhea and pseudomonas infection

I would be grateful for some direction as to where to go with this infant,
who presented at 6 weeks of age with severe diarrhea, pseudomonas at 3 sites
and thrombophilia .    Any suggestions for further analysis would be
helpful, particularly if you add where they could be obtained.  The
insurance is poor.

The patient is now 4 mos of age.  He was born to non-consanguinous parents
of an uncomplicated pregnancy by C-section as this was the third repeat
C-section.  He had no in-hospital complications; he was fed by breast milk.
Newborn screen, including TRECs, was normal.  At approximately 6 weeks of
age his mother noted some blood streaks in the stool and his stooling
increased in frequency.  He became irritable and was sent to the emergency
service where he was noted to have a scaly rash and be severely dehydrated
with a temperature of 102.  He was admitted for rehydration and evaluation
for infection. 
Multiple consults to evaluate initial elevated WBC, elevated creatinine,
hyperkalemia, skin rash, diarrhea were obtained with the following opinions:
stressed marrow due to severe dehydration, kidney injury due to severe
dehydration, CAH negative, skin rash was non-specific xerosis.
Gastroenterology gave  an extensive differential diagnosis but no specific
etiology was noted for diarrhea.
Approximately one week into his hospitalization he was noted to have an
external otitis which cultured positive for Pseudomonas which provoked an
Immunology consultation.  History was notable for a death at age 2 of his
mother¹s sister  (maternal aunt) possibly due to meningitis.  His father
brother (paternal uncle) died at age one of unknown cause.  Both of these
deaths occurred in South America.
He progressed to have a neck mass.  On CT imaging a jugular vein thrombosis
as well as a sub-mandibular abscess was seen.  This was due to Pseudomonas
and required drainage.  A Broviac catheter was placed and the subcutaneous
track became infected, also with Pseudomonas.   The broviac was removed and
a line inserted in the groin.  This immediately became partially thrombosed
but did not become infected and did not have to be pulled.  He was (and is)
treated with low-molecular weight heparin.
Immunology workup so far normal as follows:  CBC  WBC initially >50,000 but
decreased and remained at 15 to 10 K, ANC 4K to 8K, ALC 2K to 6K, platelets
280 to 600K, normal size
Repeat TREC (Mayo) normal
CD3--4847
CD4  3794
CD8--984
CD56--140
CD19‹2037
CD20‹29%
CD4+CD45RA+75%, CD4+CD45RO+25%
FISH for maternal cells  100% XY
Mitogens to  PHA, PWM ³normal² (Mayo)
CD18 normal
CH50 - normal
TLR (ARUP)  - normal cytokine production to 6  ligands
Wiscott Aldrich normal
Normal IgG and M (drawn to determine if he needed Ig replacement of maternal
Abs due to severe enteropathy)
Microarray showed no clinically significant copy #s but a long stretch of
homozygosity at Chromosome 1.
Thrombophilia evaluation was non revealing.

He was discharged mid-December and I saw him Dec. 30.  He looked well and
was gaining weight on an elemental formula, although gastroenterology feels
his weight  gain could be more robust.

Kathleen A. Haines, MD
Section Chief, Pediatric Immunology
Section of Pediatric Rheumatology and Immunology
Joseph M. Sanzari Children's Hospital
HackensackUMC
30 Prospect Ave.
Hackensack, NJ  07601

Tel:  551-996-5306
Fax: 201-996-9815
email:  khaines at hackensackUMC.org

****************************************************************************
********************************* Confidentiality Notice: This email message
and any attachments from HackensackUMC are confidential and for the sole use
of the intended recipient. This communication may contain Protected Health
Information ("PHI"). PHI is confidential information that may only be used
or disclosed in accordance with applicable law. There are penalties under
the law for the improper use or further disclosure of PHI. If you are not
the intended recipient of this email or the employee or agent responsible
for delivering the communication to the intended recipient, then you may not
read, copy, distribute or otherwise use or disclose the information
contained in this message. If you received this message in error, please
notify us by telephone at 551-996-2000 or by email to
Postmaster at HackensackUMC.org Please indicate that you were not the intended
recipient, and confirm that you have deleted the original message. Please do
not retransmit the contents of the message. Thank you.
****************************************************************************
********************************* About Hackensack University Medical Center
HackensackUMC, a nonprofit teaching and research hospital located in Bergen
County, NJ, is the largest provider of inpatient and outpatient services in
the state. Founded in 1888 as the county¹s first hospital, it is the
flagship hospital of Hackensack University Health Network, one of the
largest health networks in the state comprised of 1,250 beds, nearly 10,000
employees and 2,700 credentialed physicians. HackensackUMC was listed as the
number one hospital in New Jersey in the U.S. News & World Report¹s Best
Hospital rankings for 2014-15. HackensackUMC is among Healthgrades®
America¹s Best 100 Hospitals in five different areas, is one of Healthgrades
America's 50 Best Hospitals for eight years in a row, and received the
Healthgrades Distinguished Hospital Award for Clinical Excellence 12 years
in a row. The medical center has also been named a Leapfrog Top Hospital,
and received 23 Gold Seals of Approval by the Joint Commission  more than
any other hospital in the country. It was the first hospital in New Jersey
and second in the nation to become a Magnet® recognized hospital for nursing
excellence; receiving its fifth consecutive designation in 2014.
HackensackUMC is the Hometown Hospital of the New York Giants and the New
York Red Bulls and was Official Medical Services Provider to The Barclays
PGA Golf Tournament and the NY/NJ Super Bowl XLV111 Host Committee. It
remains committed to its community through fundraising and community events.
To learn more, visit: www.HackensackUMC.org <http://www.HackensackUMC.org> .
---

The CIS-PIDD listserv is supported by:

The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org
<https://cis.execinc.com/edibo/Signup>  to join!

You are currently subscribed to cis-pidd as: cooper_m at kids.wustl.edu.
To unsubscribe click here:
http://lm.clinimmsoc.org/u?id=183824437.a01dbcff8dbb085c637e24ff0142df85&n=T
&l=cis-pidd&o=45940435

The materials in this email are private and may contain Protected Health
Information. If you are not the intended recipient, be advised that any
unauthorized use, disclosure, copying, distribution or the taking of any
action in reliance on the contents of this information is strictly
prohibited. If you have received this email in error, please immediately
notify the sender via telephone or return email.

---

The CIS-PIDD listserv is supported by:

The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org
<https://cis.execinc.com/edibo/Signup>  to join!

You are currently subscribed to cis-pidd as:
bodo.grimbacher at uniklinik-freiburg.de.
To unsubscribe click here:
http://lm.clinimmsoc.org/u?id=205786708.ca2828e401b5b29dc95bd08570b2b3a9&n=T
&l=cis-pidd&o=45940476

---
The CIS-PIDD listserv is supported by the Clinical Immunology Society
The science & practice of human immunology

P: +1.414.224.8095
E: info at clinimmsoc.org

Not a member of CIS? Please visit www.clinimmsoc.org to join!

You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://lm.clinimmsoc.org/u?id=183939985.3ea13d40a15475ac00ebbd9cd8a37d6d&n=T&l=cis-pidd&o=45947929
or send a blank email to leave-45947929-183939985.3ea13d40a15475ac00ebbd9cd8a37d6d at lists.clinimmsoc.org
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20150112/c6ec7d5e/attachment-0001.html>