[CIS PIDD] Does this patient have PID?

[Verbsky, James]

Could you describe the rash better.  Is it at all pustular (I wonder if that is what you meant by impetigo)

IL-36 receptor antagonist deficiency results in fevers and rash and is triggered by pregnancy..however it is typically pustular and consistent with pustular psoriasis.  I don't think diarrhea and weight loss are common though.

Best

James


James W. Verbsky MD/PhD
Associate Professor of Pediatric,s and Medical Microbiology and Genetics
Medical College of Wisconsin
Milwaukee, WI  53211
jverbsky at mcw.edu<mailto:jverbsky at mcw.edu>
414-266-6701 (phone)
414-266-6695 (fax)



From: pagid-bounces at list.clinimmsoc.org [mailto:pagid-bounces at list.clinimmsoc.org] On Behalf Of Yesim Yilmaz Demirdag
Sent: Thursday, July 19, 2012 9:49 PM
To: pagid at list.clinimmsoc.org
Subject: Re: [CIS PIDD] Does this patient have PID?

I am not sure about APECED or CARD9 deficiencies, could they start later in life?
She was completely healthy until 29 years of age (until her 6th pregnancy). Plus normal lymphocyte stimulation with candida would make APECED unlikely. Thanks
Y

On Thu, Jul 19, 2012 at 9:21 PM, Safa baris <safabaris at hotmail.com<mailto:safabaris at hotmail.com>> wrote:
Hi;

recurrent candidiatisis and hypotiriodisim may thought mucocutaneous candidiasis (APACED, CARD 9).


Safa Baris

Marmara University, Division of Pediatric Allergy and Immunology,

Istanbul, Turkey

________________________________
Date: Thu, 19 Jul 2012 18:18:33 -0400
From: dryesimyilmaz at gmail.com<mailto:dryesimyilmaz at gmail.com>
To: pagid at list.clinimmsoc.org<mailto:pagid at list.clinimmsoc.org>
Subject: [CIS PIDD] Does this patient have PID?

Dear all,
I am seeing this interesting patient, her symptoms started during her 6th pregnancy. She was referred to me because of borderline low IgM and family history of C9 deficiency. I am not sure if she has PID. I would appreciate your input:

32 yo white woman with no significant past medical history:
She started to have daily fever and intermittent rash during the first trimester of her 6th pregnancy in April 2009. Her fever and rash continued to recur until 32 wk EGA when she had a preterm labor which was preceded by a severe chorioamniotis. After treatment she was asymptomatic for about 1 month.
In September 2009 her fevers recurred (she was not pregnant at that time), she also developed bilateral swollen and tender axillary glands, this was diagnosed with "flu", symptoms improved spontaneously within 1 week. She was asymptomatic for a couple of months.
Then in January 2010 she developed high fever and swollen axillary lymph nodes. She was pregnant (7th pregnancy) again at that time. She was diagnosed with URI and treated with Z-Pack. Her pregnancy resulted in miscarriage in February 2010.
In May 2010 she became pregnant again (8th pregnancy), and in June she started to have recurrent fevers, night sweats, and weight loss. She lost about 22 lbs in one month. She was evaluated by ID and heme-onc, and an extensive work-up for infections and malignancy was negative. This pregnancy too ended prematurely and complicated by chorio.


In summary in the past 3 years she was diagnosed with the following conditions:
- Daily fever
- Axillary lymphadenopathy + fever x 2
- Premature labor and chorioamnionitis x 2
- Miscarriage x1
- Mastitis x 2
- Recurrent facial impetigo, conjonctivitis requiring PO antibiotics
- Recurrent preseptal cellulitis requiring IV abx, cultures were positive for h. flu, strep pnuemo, VRE and propionibacterium
- Oral candidiasis x 4, esophageal candidiasis x 1 (september 2011) - no fungal infection since September 2011.
- Recurrent genital candidiasis- attributed to PO antibiotics, and resolved after diflucan.
- Candida infection on the L nipple, treated with local antifungal, did not recur
- Streptococcal pharyngitis x 2
- Questionable hypothyroidism - but most recent labs are normal
- Chronic diarrhea, weight loss
There is no history of sinus infections, pneumonia, sepsis, meningitis, osteomyelitis, abscess, other type of viral infections (such as Herpes simplex).

Weight loss is also concerning, she lost 19 lbs in the past 2 months, and since last year she has lost about 40 lbs.

Family history: Brother has C9 deficiency with history of recurrent meningitis until age 4 yrs, he is now 23 years old with mild mental retardation.


Relevant Labs:
Mild neutropenia intermittently (500-1000), normal ALC, normal eos.
IgG and IgA WNL, IgM: 50 mg/dl,
Normal IgG subclasses
Normal B and T cell subsets
Normal protein electrophoresis
Albumin, Prealbumin: WNL
Recently slightly elevated liver enzymes: in 50s.
Negative serology for Lyme dis, Toxo, CMV, Herpes, Borrelia, HIV, Hep A, Hep B, Hep C, HTLV I and II, Chlamydia
EBV serology consistent with remote infection
Quantiferon-TB negative
C3: WNL, C4: 19, CH50: 190
C9 function: normal
Normal lymph proliferation to mitogens, tetanus, and candida stimulus
Normal response to pneumovax, tetanus, and h. flu
Normal IgD level
Stool ova/cyst/parazite/giardia/cryptococcus negative
Normal TSH and freeT4, low T3
Serum phospholipids are elevated : 314 (155-275)
Lupus anticoagulant: Negative
BM biopsy: negative for malignancy or MDS, no comment on plasma cells
Colonoscopy: Normal

I wanted to refer this patient to the PID clinic at NIH but she refused to go there at this time.

Thanks for your help in advance.

Yesim Yilmaz Demirdag, MD
Section of Allergy and Immunology
Department of Pediatrics
West Virginia University School of Medicine
Morgantown, WV
(304) 293 1201<tel:%28304%29%20293%201201>



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