[CIS PIDD] [cis-pidd] Chromosome X and 3 translocation

[CIS-PIDD]

I was referred an 8 year old girl for immune workup secondary to frequent pneumonias.  My initial history is as follows:  “Patient was born in Peru at 32 weeks by C-section as there was poor fetal growth. Polydactyly was noted at birth which suggested a genetic issue. First pneumonia was at 4 months. Pulmonary MD referred her to geneticist due to developmental delay, and other stigmata of genetic problems. She was noted to have a translocation of chromosome X to Chromosome 3 with missing fragments. Before she turned 2 she had at least two episodes of pneumonia treated with O2 and antibiotics in Peru. Mother came to US in August 2012. January and Feb of 2013 she had surgery on her eyes (congenital ptosis). At this time she also developed epilepsy. March 2013 she had a fundoplication and gtube. At that time she had continuous seizures for which she was sedated for weeks, triggering the gtube placement. Next major infection was Winter 2013 with pneumonia; she also had pneumonia in 2014 and in 2015 one pneumonia had atelectasis, treated with Bipap.  She has never been intubated for pneumonia; she has never needed chest tube drainage.  Over this Winter she has been congested requiring O2 treatments, pulmonary toilet at home. In general, she is sick from October through May. She just got out of the hospital for RSV infection.”

“Denies serious diaper rash as infant, but has had with antibiotic treatment. No major issues with rashes. She has had no lymphadenitis, cellulitis. She has had tubes put in for what sounded like serous otitis. Father said she has not had a recent problem with otitis or sinusitis.”

“All of her nutrition is currently through her g-tube. Parents report she failed a swallowing study so they were told not to feed her by mouth.”

She is on Keppra, Depakote and Clobazam for seizure control.

I assumed her pneumonias were likely aspirations, but did some baseline evaluations as follows:
Hgb: 11.3
WBC: 2.5  x 10E3
Plt: 425
Abs Lymph: 1.3x 10E3
CD3: 584/ul   CD4: 325/ul   CD8 229/ul
CD19: 401/ul
CD56/16: 278
IgG 1774 mg/dL  normal subclasses
IgA 659 mg/dL
IgM 291 mg/dL
Positive baseline antibodies to Diphtheria and Tetanus; 4/14 baseline positive to Pneumococcal polysaccharide.

Clearly anticonvulsants can cause low B-cells and antibodies, but hers are normal to high.  It’s her T-cells that are low.  I plan on doing mitogen studies and checking her pneumovax response, but before I stick her again, does anyone have any other suggestions?

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

T:  551-996-5306
F: 201-996-9815
Email:  Khaines at HackensackUMC.org

About Hackensack University Medical Center HackensackUMC, a 775- bed 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 county’s first hospital, it is the flagship hospital of Hackensack University Health Network, one of the largest health networks in the state comprised of 1,717 beds, more than 10,000 team members and 3,300 credentialed physicians. HackensackUMC was listed as the number one hospital in New Jersey in U.S. News & World Report’s 2015-16 Best Hospital rankings - maintaining its place atop the NJ rankings since the rating system was introduced. It was also named one of the top four New York Metro Area hospitals. HackensackUMC is the only hospital in New Jersey, New York and New England to be named one of Healthgrades America's 50 Best Hospitals™ nine consecutive years, and receive the Healthgrades Distinguished Hospital Award for Clinical Excellence™ 13 years in a row. The medical center is one of the top 25 green hospitals in the country according to Practice Greenhealth, and received 24 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 has created an entire campus of award-winning care, including: the John Theurer Cancer Center; the Heart & Vascular Hospital; and the Sarkis and Siran Gabrellian Women’s and Children’s Pavilion, which houses the Joseph M. Sanzari Children’s Hospital and Donna A. Sanzari Women’s Hospital, which was designed with The Deirdre Imus Environmental Health Center and listed on the Green Guide’s list of Top 10 Green Hospitals in the U.S. HackensackUMC is the Hometown Hospital of the New York Giants and the New York Red Bulls and is Official Medical Services Provider to The Barclays PGA Golf Tournament. It remains committed to its community through fundraising and community events. To learn more, visit: http://www.hackensackumc.org/

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