[CIS-PAGID] low ch50 with normal complement levels, another case.

[Nancy Kingston]

Dear Colleagues,
I, too have been referred a patient this month with a CH50 of 0.  I would like to refer you to a helpful review on the work up of complement deficiency. (J Allergy Clin Immunol. 2004 Apr;113(4):585-93; quiz 594.) I would like your suggestions on my patient as well.
 
The patient is a 3 yo male with history of recurrent sinus infections requiring IV antibiotics since about 1 1/2 yrs old. There is no family hx of immune deficiency or autoimmune disorder.   He had been seeing an  infections disease specialist  for this and,  on one occasion,  had gotten a dose of IVIG.  In the last six months his CH50 has been checked 3 times and has been 0.  ID has sent C1, C2, C3, C4, C7, C8, C9 on the pateint and the levels were all normal.  He had been seen my another immunologist within the last year and had normal immunoglobulins and several normal antibody titers (tetanus, pneumococcal, h. influenza).  They had also checked neutrophil function, which was normal.
 
He does have subtle inflammation in the lower extremities and knee joints comfirmed by an orthopod. 
 
He recently complained of headache, back pain and photosensitivity, s/p one week of ceftriaxone, but on exam/ work up,  was negative for meningitis.  He was also on prophylactic bactrim at the time.
 
He recently has sinusitis symptoms, but when I checked and xray, it was completely normal.
 
I have gotten back a normal C5 and C 6 this week.  I am awaiting AH50, MBL, Factor I and Factor P.
As mentioned, I do have him on antibiotic prophylaxis as well as naproxen.
The mother is hoping for IgG replacement as she thought that the dose he had gotten previously was helpful.  On literature review, I have only seen prophylactic antibiotics as the therapy in general.  
What are your thoughts on IgG replacement for this patient?  
Pending the above labs, do you have any further suggestions for lab work?
Thank you for your suggestions,
 
Nancy Wasserbauer, DO
Akron Children's Hospital
Allergy/Immunology



From: Anita Gewurz <agewurz at rush.edu>
Subject: Re: [CIS-PAGID] low ch50 with normal complement levels?
To: pagid at list.clinimmsoc.org
Cc: "Ashish Kumar" <Ashish.Kumar at cchmc.org>
Date: Tuesday, November 16, 2010, 2:25 AM


Dear Ashish,

Like Drs. Vasconceles and Gonzalez, I suspect the problem is homozygous C2 deficiency and would also check the AH50.

Undetectable CH50 levels can certainly result from complement activation, as suggested by Dr. Verbsky, but in the situation you describe a congenital C defect is most likely.  Homozygous deficiency of an early-acting classical or mannose-binding lectin pathway component may present in infancy with infection or lupus-like disease.  Normal alternative pathway hemolytic activity (AH50) excludes deficiency of C3, C5, C6, C7, C8 or C9.

Patricia Giclas PhD, Director of the Complement Laboratory at National Jewish can help http://www.nationaljewish.org/research/diagnostics/adx/labs/complement.aspx .

Sincerely,

Anita Gewurz MD
Section of Allergy and Immunology
Department of Immunology/Microbiology
Rush Medical College
Chicago IL 60612


On Nov 15, 2010, at 7:11 PM, <dmvascon at usp.br> wrote:


> Dear Ashish

> 

> I would suggest to test for APH50, in order to evaluate alternate pathway function. The combination of both functional screening tests (CH50 and APH50) is very useful to drive the evaluation of complement defects:

> 

> CH50 indetectable, APH50 normal: defects of classical pathway activation

> CH50 normal, APH50 indetectable: defects of alternate pathway activation

> CH50 and APH50 indetectable: defects of membrane attack complex.

> 

> These functional tests are fundamental, due to the fact that in a qualitative defect of any component of complement (without quantitative defect), there will be a reduction of the value of the screening test, without reduction of the quantitation of any component by any immunochemical method (nephelometry, turbidimetry etc.).

> 

> Usually complement deficiencies present clinical manifestations later in life (usually autoimmunity in classical pathway activation components - C1, C4, C2) and infections by encapsulated bacteria - mainly Neisserial infections - with alternate pathway or membrane attack complex component deficiencies.

> 

> Therefore it is important to test for other possible complement defects and follow-up these patients closely to detect any possible clinical and immunological manifestation as early as possible.

> 

> Best regards,

> 

> Dewton

> 

> 

> Citando Ashish Kumar <Ashish.Kumar at cchmc.org>:

> 

>> Dear Friends,

>> 

>> I recently saw a set of twin girls who were born at 32 weeks with twin-twin transfusion syndrome; the smaller of the two has needed a couple hospitalizations with URIs due to hypoxia. She has chronic rhinorrhea, a history of wheezing that responds to bronchodilator therapy. Someone checked her ch50 and it was <10; recheck showed the same. Her twin was then checked and hers too was <10. Their complement levels are all normal, except I don't have results on C2. They are 18 months old, have normal immune globulins, lymphocyte numbers and no serious infections. The smaller twin hasn't needed hospitalization since March, even though she has had a couple URIs since then - probably because of the season, growth and better asthma control. So, they were sent to me for consult because of the low ch50. Since the testing is sensitive to sample handling, I thought to repeat it and it is still low. I cannot reconcile the history of no serious infections with low

 ch50 but normal complement levels. Is this just a testing aberration? Any suggestions/ideas?

>> 

>> Thanks!

>> Ashish Kumar

>> 

>> Ashish Kumar, MD, PhD

>> Assistant Professor

>> Cincinnati Children's Hospital Medical Center

>> Cincinnati, OH

>> 

>> 

> 

> 

> <dmvascon.vcf>





      
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