[CIS PIDD] [MARKETING][cis-pidd] granulomatous hepatitis of unknown etiology and low IgG and IgA -??

Wed Feb 10 00:57:05 EST 2016

consider LRBA/CTLA4
El 10/2/2016 6:53, "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org> escribió:

> Hi Tracy,
>
> so basically you have low IgG, low IgA, normal IgM, no response to
> meningococcal vaccination, somewhat increased percentage of DNTs (common in
> CVID, see studies by C Speckmann S Ehl and co). She has granulomatous
> hepatitis, NRH of liver and granulomas of LN.
>
> Your patient fulfills any used or recently suggested criteria for CVID,
> and phenotype is typical for gCVID, though I would love to hear naive CD4 T
> cell (low?), Tg/d counts (high?), B phenotyping results (hi Btrans?). This
> to make sure that you do not have a CID in your hands (in which case I
> would also look for rubella).
> Granulomas are a feature of about 20 other PIDs, occasionally.
>
> Most of the patients with this phenotype (which is not that rare a
> presenting phenotype) also have GLILD in lungs. She needs specifically HRCT
> (normal CT is not sensitive enough!!), spirometry, diffusion measured (and
> LFTs followed every 6-12 m) and likely at some point VATS-assisted biopsy.
>
> You aim at troughs around 10 g/L = 1000, Entocort perorally usually helps
> with liver findings w/o severe systemic side effects, but you may need to
> treat the lungs more aggressively! The disease has a lot of natural
> fluctuation, close follow up of lungs is truly needed.
>
> Serology is of course unreliable, you need to use PCR, Ag, culture,
> staining.
>
> Prednisone 40 mg is too high for gCVID in my and others experience, lots
> of complications, opportunistic infections, even fatal.
> Starting with 15-20 mg usually helps with liver and often with lungs (this
> is not sarcoidosis, you may want to check C Cunningham-Rundles & H Chapel's
> excellent article on the dg differences), but if GLILD unresponsive, see
> literature. Often flares held at bay with 5-7.5 mg/d at long term, but if
> not - again see literature.
>
> "Gallbladder removed": many of these patients have idiopathic cholangitis,
> MRI and liver biopsy relook may be needed. May resemble PSC or PBC.
>
> NRH: see literature, may develop portal hypertension!
>
> If you feel that her problems are a bit too complicated, this is the
> patient I would remit to a highly experienced clinical immunologist, w/o
> shame. These patients really stretch all our abilities and competence!
>
> ATB, kind regards,
>
> Mikko
>
> Oyl Mikko Seppänen
> Harvinaissairauksien yksikkö (HAKE)
>
> 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> kirjoitti 10.2.2016 kello 6.28:
>
> Hello,
>
>
> I am seeing a 29 year old female w/ recently diagnosed granulomatous
> hepatitis of unknown etiology (January 2016-1st admission) and low IgG
> (noted in current/2nd admission).  Prior to coming to university hospital,
> she had her gallbladder removed and her liver was knicked in Dec 2015 when
> she was being evaluated locally for abdominal girth.   She was transferred
> due to ascites and hepatosplenomegaly.
>
>
> She has extensive work-up with no overt infection found except for a
> positive IgM antibody to brucellosis.  I saw her for the first time today.
> She has had recurrent sinusitis since childhood and had T & A removed at
> age 17 due to recurrent strep throat.  She had ear infections but did not
> need PET tubes.  She had possible meningitis at age 19 and was hospitalized
> for 2 weeks for that and we hope to get her discharge records from that
> time period to learn more about that hospitalization since her memory is
> vague regarding this.
>
>
> I am trying to determine if CVID as a potential diagnosis for the cause of
> her problems.  She had a biopsy of her liver that showed granulomatous
> hepatitis on 1/4/16 .  Her CT lung  is fine.  She does have
> hepatosplenomegaly.  She had LN biopsy done at OSH and the slide reviewed
> at our university hospital  confirmed  Numerous non-caseating granulomas
> effacing normal nodal architecture.
>
>
> Has any folks seen granulomatous hepatits as presenting complaint for CVID
> or have you seen other immunodeficiency associated with granulomatous
> hepatitis?
>
>
>
> Labs of interest:
>
>
> *Globulins 0.34 (low, nl 0.6-1) 1/29/16 IgG 194 (low, nl 634-1,700), IgA
> 64 (low; nl 78-436), IgM 206 (normal) - 1/23/16*
>
> *IgG 201 (low, nl 634-1,700), IgA 78 (low; nl 66-436), IgM 188 (nl 45-281
> ) - 1/29/16*
>
>
> - Brucella IgG wnl, IgM elevated- unreliable  BRUCELLA IgG 0.07, IgM 1.19
> H (<1.10)
>
>
>
> Cell markers 2/4/16: "there is a moderate lymphopenia with a relatively
> normal distribution of peripheral blood T and B cells. TCRalphabeta
> positive CD4/CD8 negative T cells are mildly increased. NKT cells are
> prominent. Increased T cell HLA-Dr expression indicates activation."
>
> Post IVIG infusion:
>
>
>
> *1/30/16: IgG = 619 *
>
>
> Steroids started 1/30/16 for presumably sarcoidosis (as a diagnosis of
> exclusion).
>
>
> *1 week later*
>
>
>
>
> *2/5/16: IgG = 322 IgA = 72 IgM = 133*
>
>
> Tetanus IgG Ab = 1.08
> Anti-A iso titer = 1:32
> Anti-B iso titer = 1:64
> CH50 = 70.2
> FLEXITEST 1 NEISSERIA MENINGITIDIS IGG VACCINE RESPONSE, MAID
> SEROGROUP A <0.5 L ug/mL
> SEROGROUP C <0.5 L ug/mL
> SEROGROUP Y <0.5 L ug/mL
> SEROGROUP W-135 <0.5 L ug/mL
>
>
>
> - CT with hepatosplenomegaly but otherwise normal w/o enlarged nodes to
> biopsy
>
>
> - Pathology has reviewed lymph node from Pratville - lymph node consumed
> with granulomas. no normal lymph tissue.
>
> - path report of normal peritoneum without granulomas. AFB stain negative
> and flow cytometry negative.
>
> - Empirically treating for infiltrative process like sarcoid; also
> brucella as above concurrently with *prednisone 40mg daily, Doxycycline,
> and Rifampin since 1/31/2016 ( Day 10 )*
>
> Thank you for your help,
>
>
> Tracy Hwangpo
>
> MD/PhD
>
> Instructor, Division of Clinical Immunology & Rheumatology
>
> Department of Medicine
>
> thwangpo at uabmc.edu
> <https://webmail.uabmc.edu/owa/redir.aspx?C=Jvh21Y4R5Ey8El7HpI-8P70cvHtMgtIIoyupOWh-LnQ10U6acu4koIOBQhs3ZMe_AqV8kNSBks8.&URL=mailto%3athwangpo%40uabmc.edu>
>
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