[CIS PIDD] Does this patient have PID?

[Bodo Grimbacher]

Also Q-fever (Coxiella burnetii) to be considered for fevers and abortions.
In Germany mostly prevalent in sheep herds.
Any exposition?

Bodo Grimbacher
CCI Freiburg, Germany

Am 20.07.12 15:32 schrieb "Dewton Vasconcelos" unter <dmvascon at usp.br>:


>Hi Don, good morniong

>

>Brucella is the classic agent of undulant fever, usually associated with

>abortions, but I think that this agent is not seen in the US anymore.

>Even here in Brazil Brucellosis is rare, seen only in farms and small

>towns of the inlands. I am not an expert in this area, but in the last

>10 years I have not seen any case.

>On the other hand, I've seen some cases of borreliosis with relapsing

>fevers, both Lyme disease and non-Lyme borreliosis.

>

>Best regards,

>

>Dewton

>

>

>Donald Cuong Vinh, Dr wrote:

>> You mean Brucella?

>>

>> Sent from my iPhone

>>

>> On 2012-07-20, at 8:25 AM, "Dewton Vasconcelos"

>><dmvascon at usp.br<mailto:dmvascon at usp.br>> wrote:

>>

>> Dear Yeşim, good morning

>>

>> In a "mild" presentation of infectious diseases with Candida and some

>>bacterial should be interesting to look for myeloperoxidase deficiency,

>>a mild PID that induces clinical manifestations when associated to

>>another cause of secondary ID, such as diabetes mellitus.

>> Thinking out of PID maybe interesting to look for Borrelia infections,

>>which may induce relapsing fevers and abortions.

>>

>> Best regards,

>>

>> Dewton

>>

>> Yeşim Yılmaz Demirdağ 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

>>

>>

>>

>>

>> <dmvascon.vcf>

>>

>>

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