[CIS PIDD] Does this patient have PID?

[Yeşim Yılmaz Demirdağ]

Yes, we thought about FMF but her CRP has never been above 0.6 during the
symptoms, and she usually develops mild-moderate neutropenia when her
symptoms are worse.
Interestingly in the past 5-6 months her symptoms are progressive/chronic,
I cannot say her symptoms are periodic anymore. She does have some upper
abdominal pain intermittently but it lasts only 2-3 minutes. Other than
that there is no symptoms suggesting peritoneal, pericardial, or synovial
involvement. But I will keep this in mind. Thanks.
Y

On Thu, Jul 19, 2012 at 8:39 PM, Keller, Michael D
<KellerMD at email.chop.edu>wrote:


> Her fevers, adenopathy, and rash could suggest an auto inflammatory

> condition... do her inflammatory markers rise markedly with episodes of

> fever?  Untreated FMF has been associated with a high rate of miscarriages.

>

> Mike

> ________________________________________

> From: pagid-bounces at list.clinimmsoc.org [pagid-bounces at list.clinimmsoc.org]

> On Behalf Of UPENN [sullivak at mail.med.upenn.edu]

> Sent: Thursday, July 19, 2012 7:07 PM

> To: pagid at list.clinimmsoc.org

> Subject: Re: [CIS PIDD] Does this patient have PID?

>

> Does she become anemic with her pregnancy losses?

> I don't know what this is but the recurrent pregnancy loss and amnionitis

> sounds like factor H deficiency etc and an HUS-ish picture.  I would also

> consider anti-phospholipid syndrome.

>

> Sent from my iPad

>

> On Jul 19, 2012, at 6:18 PM, Yeşim Yılmaz Demirdağ <

> dryesimyilmaz at gmail.com<mailto:dryesimyilmaz at gmail.com>> wrote:

>

> 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

>

>

>

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