[CIS PIDD] [cis-pidd] adult patient with auto-immunity and recurrent airway infections

[CIS-PIDD]

Dear Stephan, Klaus and Mikko, thanks for your reactions! Her 
lymphocyte subsets showed low CD8+ cytotoxic T-cells, low non-switched 
as well as low switched memory B-cells and normal plasmablasts. She has 
no enlarged lymph nodes, but multiple small ones at the regular 
stations. Genetic testing and CMV/EBV have (so far) not been done. Best 
regards, Esther

Van: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>
Onderwerp: Antw.: [MARKETING]Re: [cis-pidd] adult patient with 
auto-immunity and recurrent airway infections
Datum: 20 oktober 2015 12:24:11 CEST
Aan: "CIS-PIDD" <cis-pidd at lyris.dundee.net>
Antwoord aan: "CIS-PIDD" <cis-pidd at lyris.dundee.net>

Hi Esther!

Genetically, could not agree more with Stephan.

Blood EBV, CMV -PCR? Lymphadenopathy? EBER of lymphoid tissue?

Clinically, very borderline, about as borderline as can get. Since no 
medication to explain, she does have IgG2D and SAD.

The hypergamma makes this tricky. The few similar patients I have had, 
I do have attempted IgGRT (due to symptomatic chronic bronchiectasis). 
Either they do not tolerate it (often get increasing side effects 
gradually, including new asthma/worsening, anaphylactoid reactions, 
vocal cord dysfunction, prolonged malaise and fatigue after infusions, 
angioedema, urticaria) or surprisingly they tolerate it well. SCIg seems 
safer.

Bronchiectasis usually needs other concomitant treatments 
(physiotherapy, inhaled ab), but seems partly ameliorated - in those who 
tolerate...

One very much like this (others in family had had a similar disease) 
who tolerated her therapy well  died recently of her CMV retinitis and 
systemic CMV infection plus respiratory failure a.s.f., age of onset of 
recurrent URTIs was early childhood, of pneumonias early 20ies, of 
multiple autoimmune diseases including Sjogren starting in 30ies, and 
CMV at about 70 y of age... I always thought her as APDS, but the whole 
family refused any genetic testing...

Good luck, Esther!

Mikko

Oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE)

Chief, Rare Disease Center,
Helsinki University Hospital (HUH)
FINLAND

phone +358 947180201
GSM +358 50 4279606
fax +358 9 47174703


CIS-PIDD schreef op 20.10.2015 12:25:
> I agree with Stephan,
> although it would be interesting to see how many of these patients
> really have an underlying monogenic disease. This is still an
> unanswered questions, since these patients are usually not genetically
> investigated.
> Do you have a B cell differentiation? In the connective tissue
> disorders you might see an expansion of plasmablasts and sw mem B
> cells while this is unusual for the above mentioned PIDs
> 
> Best regards
> 
> Klaus
> 
> Prof. Dr. med. Klaus Warnatz
> 
> MEDICAL CENTER - UNIVERSITY OF FREIBURG
> Center for Chronic Immunodeficiency - CCI
> Department of Rheumatology and Clinical Immunology
> 
> Breisacher Str. 117, 79106 Freiburg, Germany
> Tel. +49 761 270 77640 / FAX -71000 / Pager 12-7100
> klaus.warnatz at uniklinik-freiburg.de
> 
> www.uniklinik-freiburg.de/cci
> 
> 
> -----Ursprüngliche Nachricht-----
> Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
> Gesendet: Dienstag, 20. Oktober 2015 11:49
> An: CIS-PIDD
> Betreff: Re: [cis-pidd] adult patient with auto-immunity and
> recurrent airway infections
> 
> If PID, consider APDS (or CTLA-4 and STAT3 GOF - because of the "MS",
> STAT1 GOF). Hyper- may precede hypogamma in these conditions.
> 
> 
> Beste Grüße
> 
> Prof. Dr. Stephan Ehl
> Medizinischer Direktor
> 
> UNIVERSITÄTSKLINIKUM FREIBURG
> CCI - Center for Chronic Immunodeficiency
> 
> Breisacher Str. 117 - 2. OG, 79106 Freiburg i. Brsg., Germany
> phone: +49(0)761.270-77300
> Sekretariat +49(0)761.270-77550  fax +49(0)761.270-77600
> e-mail: stephan.ehl at uniklinik-freiburg.de
> 
> 
> 
> 
> 
> Am 20.10.15 11:32 schrieb "CIS-PIDD" unter 
> <cis-pidd at lists.clinimmsoc.org>:
> 
>> A 63-year-old woman who has been diagnosed with Sjögren syndrome and
>> multiple sclerosis was referred to me because of recurrent upper and
>> lower airway infections since 10 years, chronic cough, and
>> bronchiectasis with the question whether she has immunodeficiency. 
>> She
>> has not been using any immunosuppressive medication for many years, 
>> nor
>> has she ever been treated with IVIG because of her MS.
>> Her lab shows auto-antibodies, hypergammaglobulinemia with IgG2
>> deficiency, and partial polysaccharide antibody deficiency (details 
>> in
>> the attachment, Ig's in g/l).
>> Should we consider her to be a patient with primarily auto-immune
>> disease, or a patient with a form of primary immunodeficiency, and if
>> so, which?
>> Your suggestions are welcome!
>> Esther de Vries, 's-Hertogenbosch/Tilburg, the Netherlands
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