[CIS PIDD] [cis-pidd] Puzzling case of ? underlying defect in fungal immunity?

Sat Jul 12 13:11:46 EDT 2014

CGD including AR CGD should be on the differential when presented with clinical findings consistent with a possible neutrophil defect, even in an adult female.  
Here are references to case reports found on a quick search:  a 43 year old female presenting with CGD (Lun, A et. al. Clinical Chemistry. Vol 40. No 5. 2002. pp 780-1.)
and a series of 89 patients (55% of the families with AR CGD) reported in JACI (
Yavuz
Köker, M. et. al. JACI. Vol 132, No. 5. Nov 2013. pp 1156–1163.e5.).

Hope this is helpful.

Punita

Punita Ponda, MD, FAAAAI
Northshore LIJ Health System
 Cohen Children's Hospital

From: ASaxon at mednet.ucla.edu
To: cis-pidd at lists.clinimmsoc.org
Subject: RE: [cis-pidd] Puzzling case of ? underlying defect in fungal immunity?
Date: Sat, 12 Jul 2014 01:54:39 +0000

I doubt it. I’ll have to ask.
What exactly would you be looking to find this 59 yo patient.  I’m familiar with an X-linked CGD but….
Thanks Andy

From: Punita Ponda [mailto:punitaponda at hotmail.com]

Sent: Friday, July 11, 2014 5:22 PM

To: CIS-PIDD

Subject: RE: [cis-pidd] Puzzling case of ? underlying defect in fungal immunity?

Was DHR/neutrophil oxidative burst performed?

Punita 

Punita Ponda, MD, FAAAAI

Northshore LIJ Health System

Cohen Children's Hospital

--- Original Message ---

From: "Saxon, Andy M.D." <ASaxon at mednet.ucla.edu>

Sent: July 10, 2014 8:00 PM

To: "CIS-PIDD" <cis-pidd at lists.clinimmsoc.org>

Subject: RE: [cis-pidd] Puzzling case of ? underlying defect in fungal immunity?

Hi Soheil: Long time since I saw you and great to hear from you.

ACE nl on more the one occasion.
Don’t know if CD4/8 done on BAL 4 years ago. Have to find out.

Andy S
UCLA

From: Soheil Chegini [mailto:schegini at yahoo.com]

Sent: Thursday, July 10, 2014 4:37 PM

To: CIS-PIDD

Subject: Re: [cis-pidd] Puzzling case of ? underlying defect in fungal immunity?

Hi Andy,

I have no great insight into the mechanism, but based on her clinical presentation sarcoidosis should be ruled out. Was her serum ACE level ever checked?
 What was C4/CD8 ratio in BAL?

Best,

Soheil

Soheil Chegini, M.D.

Exton Allergy & Asthma Associates

656 West Lincoln Hwy.

Exton, PA 19341

Phone: (610) 269-3066

Fax: (610) 269-8615

On Thursday, July 10, 2014 4:48 PM, "Saxon, Andy M.D." <ASaxon at mednet.ucla.edu> wrote:

I am asking help in

? diagnosis and tests to establish

? suggested tests for underlying immune defect

? any good ideas as it doesn't resonate with me.

All input greatly appreciated

CASE

The subject is a 59 year old woman who has not seen an immunologist yet. I was contacted about her and will be referring her for evaluation. I have no brilliant insight into possible mutations etc that would lead to fungal infection (if that is what it truly
 is) and look like this.  Does she have a longstanding subtle = immunodeficiency, some weird polymorphism of zap70 or other thing that could effect the CD8 and lead to increased fungal infection? Or what?

.

*      Abrupt onset in the Fall 2010: night sweats, fatigue, erythema nodosum, left clavicle and bilateral knee pain, elevated ESR (50 range)

*      Oct 2010 Abnormal Chest XRay followed by Chest CT revealed bilateral apical scaring, two large RUL masses (>3 cm in size) with visceral pleural involvement at onset, smaller/nodes in left lung.

*      Oct-Dec 2010  Multiple attempts at diagnosis included two CT guided lung biopsy, bronchoscopy, mediastinoscopy with lymph node biopsy.

*      Pathology: chronic lymphoplasmacytic inflammation with occasional necrotizing granulomata with focal collection of eosinophils *        (GMS and AFB stains negative, culture negative)

*      Bronchoalveolar lavage grew Aspergillus niger (? Contaminant)

*      Lung/lymph node biopsies did not show any fungi

*      December 2010 Right upper lobectomy planned but patient started on voriconazole pre-op (for Aspergillus "colonizer") and systemic symptoms resolved. However severe transaminitis precluded continued voriconazole therapy. Once liver function normalized
 itraconazole was started in 2/11. Ultimately lung lesions reduced to less than 1.5 cm in size.  Presumptive diagnosis: granulomatous, fungal lung disease

*      Extensive ID evaluation negative for organism

*      February 2011 to May 2013 On itraconazole -symptoms controlled well.  ESR 15 range, CRP <0.3. Stopped itraconazole after more than 2 years of therapy.

*      June-July, 2013 Within 2 months of stopping itraconazole, developed tenosynovitis of wrist and ankle, elevated ESR to 50 range and CRP to 1.8-2.

*      August 2013 Started fluconazole 8/for presumptive chronic fungal infection (coccidiodomycosis).  Continued symptoms and elevation of ESR and CRP despite changing to itraconazole in February 2014.  Developed recurrence of night sweats, fatigue, E nodosum. 
 Wrist synovial biopsy showed plasma cells/lymphocytes.

*      June 2014 Recent evaluation included immunoglobulins and lymphocytes:

*      Immunoglobulins were all in normal range -IgE 25 IU/mL, IgM low normal 46 (44-277) IgG and IgA mid normal range

*      B cells normal

*      T cells: CD8 lymphopenia

*      absolute CD8 was 98  (lab normal 255-1090)

*      absolute CD3 was 506 (lab normal 841-2402)

*

OTHER:

White cells and all the routine tests in this regard normal even during her illness except the liver damage from Vorconazole, did not spike white cells or neutrophils at any time

ANA RF, cANCA, Myeloperoxidase Ab, Proteinase 3 Ab, ACE, Cyclic citrulin  ALL NORMAL/NEG

NEGATIVE  HIV, MTB quantiferon gold neg X 2,  Cocci (IGA and IGM, CF and TP), HepBs, HepC neg, Cryptococcal, Blasto & Histo serology, Aspergillus ab "neg" (I'm not sure exactly what test was done, ppt, Elisa or what)

*      On reflection, patient recalls recurrent history of pneumonia/bronchitis starting age 2-3 and continuing into teen years.  At that time (in the late 1950's) she received monthly shots of immunoglobulin for about 10 years.  There was no unusual infection
 history during her adult life until 2010.

Andy Saxon, MD

Professor and Emeritus Chief, CIA, UCLA

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