[CIS PIDD] Does this patient have PID?

[Yeşim Yılmaz Demirdağ]

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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