[CIS PIDD] [cis-pidd] CVID patient with lung disease, lymphadenopathy, and weight loss

Thu Jun 29 02:39:57 EDT 2017

Hi Chris,
fully agree with Mikko, mycobacteria still points to a CVID-like
dysregulation disorder: APDS1/2, NFKB1 but also CTLA4/LRBA.
All the best,
Nacho

*Luis I. Gonzalez-Granado. MD.*Immunodeficiencies Unit. Hospital 12 de
octubre.Research Institute Hospital 12 octubre (i+12)
Av. Cordoba S/N. 28041. Madrid. Spain
Tel. *0034**606732959 / * 0034913908569  /  Fax 0034913908772
<0034934893039>luisignacio.gonzalez at salud.madrid.org
<luisignacio.hdoc at salud.madrid.org>ORCID ID:  orcid.org/0000-0001-6917-8980
Researcher ID: B-9257-2009ResearchGate:
https://www.researchgate.net/profile/Luis_Gonzalez-Granado LinkedIn:
https://es.linkedin.com/in/nachgonzalez

2017-06-29 7:55 GMT+02:00 CIS-PIDD <cis-pidd at lists.clinimmsoc.org>:

> Hi Chris,
>
> similar reported  in CVID- look alike diseases at least in
> PIK3CD,
> Clin Immunol. 2017 May;178:20-28. doi: 10.1016/j.clim.2015.12.008. Epub
> 2015 Dec 28 (see monocyte discussion in it)
> STAT3GOF
> (our Blood paper, but generalized)
> and in the latest Listser case session in CIS in NFKB1 by Nacho
> Gonzalez/Madrid.
>
> Hope this helps,
>
> Mikko
>
> Oyl Mikko Seppänen
> Harvinaissairauksien yksikkö (HAKE)
>
> Head, Rare Disease Center,
> Helsinki University Hospital (HUH)
> FINLAND
>
> phone +358 947180201 <+358%209%2047180201>
> GSM +358 50 4279606 <+358%2050%204279606>
> fax +358 9 47174703 <+358%209%2047174703>
>
> CIS-PIDD <cis-pidd at lists.clinimmsoc.org> kirjoitti 29.6.2017 kello 0.02:
>
> Dear Colleagues,
>
> I recently inherited a 36 y/o male who carries a CVID diagnosis in my
> practice.  He has a complicated past history and some unusual presentations
> for CVID. My specific question is what other diagnostic testing would
> others recommend—specifically is additional lung tissue necessary and what
> genetic testing.
>
> Family history is notable for 2 half-siblings with CVID—they are on
> gammaglobulin and live in Australia—I have no further medical information
> on them but am attempting to get more.
>
> PMH:
>
>
>    1. Early childhood recurrent OM
>    2. Age 13 years: presented with enlarged lymph nodes. Biopsy of the
>    lymph node showed acid fast bacilli on histology and a diagnosis of
>    Mycobacterium avium-intracellulare scrofulaceum (MAIS) complex by gas
>    liquid chromatography. Treated with rifampin, isoniazid, ethambutol, biaxin
>    for about 18 months.
>    3. Age 13 years: Evans syndrome (simultaneous with mycobacterium
>    infection).  ITP was refractory and patient underwent splenectomy at age 15
>    years.
>    4. Age 22 years: presented with pneumonia and pneumococcal
>    sepsis—noted at this time to have profound hypogammaglobulinemia and IVIG
>    started and continues.
>    5. Age 25 years: prolonged diarrheal illness eventually diagnosed with
>    salmonella
>    6. Age 33 years: unintentional weight loss, intermittent mild
>    transaminitis, and cough.  Normal EGD. Induced sputum: grew Mycobacterium
>    mucogenicum in 2 of the 3 specimens. Treated with TMP/SMX, moxifloxacin,
>    azithromycin for approximately 6 months.  Chest CT showed scatted
>    ground-glass airspace opacities in bases bilaterally and RML, hilar
>    adenopathy and no bronchiectasis.
>    7. Presently, he continues to have unintentional weight loss,
>    persistent findings on chest CT with increasing lymphadenopathy. PFTs with
>    somewhat reversible obstructive pattern. Bronchoscopy was performed with
>    transbronchial biopsy. All cultures from bronch are negative, including
>    mycobacterial. Pathology shows mix of T and B cells with intact germinal
>    centers with overall morphology of reactive in nature. No granulomatous
>    inflammation seen and AFB/GMS stains were negative.
>
>
> No fevers or night sweats. He has no physical stigmata of NEMO mutation.
>
> HIV has been negative on several occasions including PCR.  CBCs show
> consistently elevated monocytes. Flow cytometry: absolute CD3 1110 (WNL),
> absolute CD4 861 (WNL), absolute CD8 190 (247-595). 3% DNTCRab+T cells.
> Normal B and NK cell numbers. Treg cell numbers in normal range.
>
> Despite how dramatic this sounds, he is quite functional:  cardio exercise
> every day and works full time as an engineer.
>
> I would appreciate input on next steps:  open lung biopsy, excisional
> lymph node biopsy (left axilla readily accessible), preauthorization for
> genetic testing submitted—what to test for efficiency and timeliness,
> CTLA4, anything else?
>
> Many thanks,
>
> Chris
>
>
> Christine M. Seroogy MD,  FAAAAI
> Associate Professor
> University of Wisconsin School of Medicine and Public Health
> Department of Pediatrics
> Division of Allergy, Immunology & Rheumatology
> 1111 Highland Avenue
> 4139 WIMR
> Madison, WI  53705-2275
> phone: 608-263-2652
> fax: 608-265-0164
>
>
>
>
> ---
>
> You are currently subscribed to cis-pidd as: mikko.seppanen at hus.fi.
>
> To unsubscribe click here: http://cts.dundee.net/u?id=99266512.
> 00d254228cd4b291924022bf56fac1f0&n=T&l=cis-pidd&o=4452688
>
> (It may be necessary to cut and paste the above URL if the line is broken)
>
> or send a blank email to leave-4452688-99266512.
> 00d254228cd4b291924022bf56fac1f0 at lyris.dundee.net
>
> ---
>
> You are currently subscribed to cis-pidd as: nachgonzalez at gmail.com.
>
> To unsubscribe click here: http://cts.dundee.net/u?id=96396812.
> 66aedac07f1044b5f6e7c94e3e51e2ac&n=T&l=cis-pidd&o=4453174
>
> (It may be necessary to cut and paste the above URL if the line is broken)
>
> or send a blank email to leave-4453174-96396812.
> 66aedac07f1044b5f6e7c94e3e51e2ac at lyris.dundee.net
>

---
You are currently subscribed to cis-pidd as: pagid at list.clinimmsoc.org.
To unsubscribe click here: http://cts.dundee.net/u?id=96396833.5a9591ccd1e327fe6bc4d1543298c482&n=T&l=cis-pidd&o=4453218
or send a blank email to leave-4453218-96396833.5a9591ccd1e327fe6bc4d1543298c482 at lyris.dundee.net
-------------- next part --------------
An HTML attachment was scrubbed...
URL: <https://pairlist7.pair.net/pipermail/pagid/attachments/20170629/57945f13/attachment-0001.html>