[CIS PIDD] [cis-pidd] 18 p deletion and multiple autoimmune diseases

[Seppänen Mikko]

Hi Yesim, 

there is a still unpublished (hopefully will come out soon) cohort of chromosomal PIDDs from an ESID survey, performed by Esther de Vries and Ellen Schatorje et al, where there are a few comparable patients. 

18p dels and ring chromosomes are associated with multiple autoimmunity, salient literature (compiled by our Dutch colleagues):

McGoey RR et al Clin Dysmorphol 2011;20:127
Recalcati MP et al, Eur J Med Genet 2010; 53:186
Browning MJ J Investig Allergol Clin Immunol 2010:20:263
Sripanidkulchai R et al J Med Assoc Thai 2006; 89:878
Kellermayer R et al. Am J Med Genet A 2005; 139:234

In the newly published and very worthwhile Stiehm's Immune Deficiencies by Kate and Richard (Eds) there is yet another excellent chapter on "Genetic syndromes with evidence of immune deficiency" (pp. 281-324) again by Jeffrey E Ming and John M Graham Jr, where this is also mini-reviewed. 

I suggest you e-mail to Esther E.d.Vries at jbz.nl . That way the colleagues having these patients and you could get in touch and share experiences.

All the best, hope this helps

Mikko


oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE), HUS
 
Mikko Seppänen, MD, PhD, Associate professor 
Specialist in Internal Medicine and Infectious Diseases
Chief, Rare Disease Center, Helsinki University Hospital (HUH)
Children’s Hospital, P.O.Box 280
FI-00029 HUS
FINLAND
&
Senior Consultant (PIDD)
Adult Immunodeficiency Unit
Inflammation Center, HUH

phone +358 9 47180201
GSM +358 50 4279606
fax +359 9 47174703



-----Alkuperäinen viesti-----
Lähettäjä: Yeşim Yılmaz Demirdağ [mailto:dryesimyilmaz at gmail.com] 
Lähetetty: 26. toukokuuta 2015 23:56
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] 18 p deletion and multiple autoimmune diseases

Dear all,
I am seeing a 6-year-old boy with a large interstitial deletion on the p arm of chromosome 18. I'd appreciate your comments. His history is very impressive:
- Autoimmune hypothyroidism diagnosed at 4 months
- Type 1 Diabetes diagnosed at 9 months
- Psoriasis (mild) at 1 year of age
- Autoimmune gastritis diagnosed at 6 years There is no history of recurrent infections of any kind.
He has mild developmental delay, intermittent diarrhea or constipation, and mild iron deficiency anemia.
Immunologic evaluation at 2 yrs was unremarkable (normal CBC w diff, QuIgs, lymphocyte subsets, Foxp3 expression, complement, specific titers). I am thinking about checking for Foxp3 mutation.

Thank you,
Yesim

Yesim Yilmaz Demirdag, MD
Columbia University Medical Center
3959 Broadway Room: CHN 107
New York, NY 10032
phone: (212) 305 2300
fax: (212) 305 4538

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