[CIS PIDD] [cis-pidd] VS: oral aphthae in a family

[Seppänen Mikko]

Most of the genes below are either available from GeneDx, or very hard to fish from mostly gastroenterology/rheumatology research labs...

If hypogamma in at least some of the affected, I have a somewhat similar family....

m

________________________________
Lähettäjä: Patel, Niraj C [mailto:Niraj.Patel at carolinashealthcare.org]
Lähetetty: 30. tammikuuta 2013 18:51
Vastaanottaja: CIS-PIDD
Aihe: RE:[cis-pidd] oral aphthae in a family

Thanks Mikko,
That is helpful.  There are no systemic symptoms in the girl such as fever, nor adenitis or pharyngitis.  I did get a CBC during an active outbreak of oral ulcers, and her absolute neutrophil count was normal for what that is worth.
I do not believe IgG levels were obtained on the father and grandfather, but I may ask them to check.
Are the genes you describe available by commercial testing?
Niraj

Niraj Patel, MD MS

Department of Pediatrics
Infectious Diseases and Immunology

Director, Immunology Clinic
Levine Children's Hospital
Carolinas Medical Center
PO Box 32861
Charlotte, NC 28232-2861

Tel:   (704) 381-6803
Fax:  (704) 381-6841
Appt: (704) 381-8840

Email: niraj.patel at carolinashealthcare.org<mailto:niraj.patel at carolinashealthcare.org>
________________________________
From: Seppänen Mikko [mailto:Mikko.Seppanen at hus.fi]
Sent: Wednesday, January 30, 2013 1:54 AM
To: CIS-PIDD
Subject: [cis-pidd] VS: oral aphthae in a family

Dear Niraj,

I am sure that You are aware of this excellent review article,

Clin Exp Immunol.<http://www.ncbi.nlm.nih.gov/pubmed?term=oral%20ulcers%20AND%20review%20AND%20Clin%20Exp%20Immunol> 2009 Apr;156(1):1-11. doi: 10.1111/j.1365-2249.2008.03857.x.

as well as this recent report on IL10, IL23R, ERAP, HLA-B*51 associations in Behcet, overlapping a.o. with genes of SPA, SLE, IBD:

http://www.nature.com/ng/journal/v45/n2/pdf/ng.2520.pdf

Melkersson –Rosenthal sdr (or, oro-facial granulomatosis can occasionally be also in the genital area), can reportedly be familial (and associates with e.g. Crohn’s, celiac, psoriasis). My guess is that the family might share many of these genes (or even a new monogenic?? Consanguinity?--> WES)?

I take they do not have symptoms compatible with autoinflammatory syndromes (? some obscure mild form of DIRA or atypical HIDS?), nor anything to suggest genetic cyclic neutropenia? Though there have been reports of somewhat familial PFAPA-like diseases, even with genital ulcers, these probably represent unknown AISs?

Has the father and/or the grandfather been checked for their IgG-levels (if low, please inform me)

Hope this helps some?

mikko

__________________________________________________
Mikko Seppänen, MD, PhD, Docent (Associate professor/Senior Lecturer)
Specialist in Internal Medicine and Infectious Diseases
Senior Consultant, Physician in charge (PIDD)
EM(E)A Expert, PIDDs and Intravenous Immunoglobulin Therapy

Immunodeficiency Unit
Division of Infectious Diseases
Department of Medicine
Helsinki University Central Hospital
Hospital District of Helsinki and Uusimaa
Aurora Hospital, Ward 4-2 and Outpatient Clinic
P.O.Box 348
FI-00029 HUS, Helsinki
FINLAND
phone +358 9 47175923, fax +358 9 47175945
_________________________________________




Lähettäjä: Patel, Niraj C [mailto:Niraj.Patel at carolinashealthcare.org]
Lähetetty: 30. tammikuuta 2013 5:07
Vastaanottaja: CIS-PIDD
Aihe: [cis-pidd] oral aphthae in a family

Dear All,
I need some help with this young child with oral apthae.
4 yo girl with no medical problems began to have oral ulcers at age 2. The ulcers occur on the tongue, cheeks, gums, and are painful and sometimes associated with mild lip swelling. She has no other associated symptoms including no fever or rash. She doesn’t have ulcers anywhere else. The oral ulcers have been treated with a cocktail of Maalox and lidocaine.
The interesting part is a family history of oral ulcers in father and grandfather, both of whom had oral ulcers since age 2. The grandfather responded to thalidomide treatment as well as chronic prednisone usage (ulcers returned when taken off prednisone). The grandfather also developed penile ulcers and was diagnosed with Behcet’s disease and suspected pyoderma gangrenosum. He was treated initially with methotrexate followed by cellcept and prednisone with minimally improvement. A biopsy of the penile lesions was done which was suspicious for herpes simplex by biopsy and PCR. The biopsy reportedly did not show evidence of pyoderma grangrenosum, but I do not have the official report. Famvir, IV solumedrol, and cytoxan were added and his lesions improved by 75% but never resolved. The father, in contrast, had oral and esophageal ulcers but no genital ulcers, and reportedly did not respond to thalidomide. His apthae improved with prednisone. He also has recurrent oral thrush. A culture of the oral ulcers was negative for herpes simplex and he did not respond to an empiric course of famvir.
Lab work on the 4 yo girl:
Viral culture of oral ulcer: negative for herpes simplex
CBC with diff normal (WBC 6.9, ANC 3,500, ALC 2,700)
ESR 18 (mildly elevated), ANA negative
Immunoglobulins normal (IgG 718, IgA 58, IgM 90)
Vaccine responses normal (diphtheria, haemophilus, pneumococcus, tetanus)
Lymphocyte subsets normal (CD3 2028, CD4 1323, CD8 621, CD19 513, CD16/56 135)
NK function slightly low at all dilutions, Lytic Units = 2.2 (normal >2.6)
Any thoughts on how to proceed?
Thank you in advance,
Niraj


Niraj Patel, MD MS

Department of Pediatrics
Infectious Diseases and Immunology

Director, Immunology Clinic
Levine Children's Hospital
Carolinas Medical Center
PO Box 32861
Charlotte, NC 28232-2861

Tel:   (704) 381-6803
Fax:  (704) 381-6841
Appt: (704) 381-8840

Email: niraj.patel at carolinashealthcare.org<mailto:niraj.patel at carolinashealthcare.org>

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