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

[CIS-PIDD]

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 <cis-pidd at lists.clinimmsoc.org> kirjoitti 20.10.2015 kello 12.49:
> 
> 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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