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

[CIS-PIDD]

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)
[cid:]

Head, 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<mailto: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







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