[CIS PIDD] Does this patient have PID?

[Yeşim Yılmaz Demirdağ]

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> 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

> To: 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

>

>

>

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