[CIS PIDD] [cis-pidd] Schimke's

[CIS-PIDD]

Dear All:  I have a patient with Schimke’s Immuno Osseous Dysplasia and wanted the group’s opinion as to  where to go from here.

He is a 4y 1m old boy who was born at 39 weeks of an uncomplicated pregnancyAt age 1 he was noted to have significant growth delay and Endocrinology found him to be growth hormone deficient.  He had no response to GH and was referred to Gastroenterology.  Cystic fibrosis testing was negative.  He was seen by Genetics at age 2, and after a bone survey the diagnosis was suspected and whole genome sequencing led to the diagnosis. He has significant proteinuria, but his creatinine remains normal and is followed by Nephrology.  He was referred to me 1 year ago (Nov. 2014) for immune evaluation.  He had no significant infections during the first 3 years of his life. He received live virus vaccines without incident.  Labs done at that time were somewhat limited due to insurance issues but are as follows:

WBC 5.5, PMN 3.7 (absolute) Lymphocytes 1.2, Mono 0.4
IgG 580 mg/dL; IgM 72 mg/dL; IgA110 mg/dL
Diphtheria Ab: <0.1;  Tetanus Ab 0.43 (normal >0.1)
Anti-pneumococcal antibodies showed 3/14 serotypes positive.  6 weeks after pneumovax 12/14 serotypes positive
PWM and PHA responses were robust at 139 and 514 respectively
Lymphocyte subsets: CD3 605; CD4 13; CD8 426; NK 178; CD19 549; CD45RA 105; CD45RO 95.
In summary, 1 year ago his CD4 counts were low but had good mitogen responses and antibody production.

A CBC recently forwarded to me by Nephrology, done in 8/2015 showed WBC of 3.8 with absolute Lymphocytes at 0.7.

He returned to see me for his second visit after a year, this November 2015.  I again evaluated him and his results are as follows:
WBC: 6.6 ; Lymphocytes 2%/396; CD3 150; CD4 91; CD 8 63; CD 56 32 CD 19 182
IgG 380; IgA 130; IgM 90
Pneumococcal antibody titers had waned but after Pneumovax, 8/14 serotypes were protective.
Mitogen Proliferation (Mayo)
Max Prolif of PWM as % CD45 7.8 (nl >4.5);  Max Prolif of PWM as % CD3 30.3 (nl> 3.5); Max Prolif of PWM as % CD19 3.0 (nl>3.9); Max Prolif of PHA as % CD45 45.3 (nl >49.9); Max Prolif of PHA as % CD3 64.3 (nl >58.5).
Antigen proliferation to tetanus toxoid and candida were negative, also at Mayo.
Clinically he has been well with no more than the usual URI’s of children.  His lymphocytes have dropped as has his IgG.  Due to his lymphopenia I have him on pneumocystis prophylaxis.
So my question to the group is if, and if so, at what point would you refer him for transplant?  Or not? What is the collective experience as to how these children do?  The literature did not show great outcomes with transplant but they appear to have had significant renal insufficiency at the time of transplant and this patient does not.

Thanks for your input!  And Happy New Year!


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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