[CIS PIDD] [cis-pidd] Hypogammaglobulinemia

Tue Sep 26 23:18:51 EDT 2017

Selectively decreased IgG and albumin in the absence of documented urinary or GI losses and with apparently normal immunoglobulin production could suggest hypercatabolic hypoproteinemia, which is quite a rare condition. The references below report about two siblings from a consanguinous marriage with a mutation in beta 2 microglobulin resulting in defective fetal Fc receptor function.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1458798/

www.ncbi.nlm.nih.gov/pmc/articles/PMC329849/
Checking serum beta 2 microglobulin level is simple but it does not rule out this condition as the defect may be due to a mutation in the fetal Fc receptor alpha chain.
Best of luck in your search,Soheil Chegini

  On Tue, Sep 26, 2017 at 4:25 PM, CIS-PIDD<cis-pidd at lists.clinimmsoc.org> wrote:    Think for a while about myotonic dystrophy (type I or II), if muscle fatigue is a prominent feature and only IgG low?

Oyl Mikko SeppänenHarvinaissairauksien yksikkö (HAKE)
Head, Rare Disease Center,Helsinki University Hospital (HUH)FINLAND
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CIS-PIDD <cis-pidd at lists.clinimmsoc.org> kirjoitti 26.9.2017 kello 22.15:

Hi,
Does normal endoscopy mean normal biopsies?

I would also consider video capsule to rule out intestinal lymphangiectasia.
David Hagin

On Tue, Sep 26, 2017 at 8:34 PM, CIS-PIDD <cis-pidd at lists.clinimmsoc.org> wrote:

All,
I am seeking advice about a 10 year old female with low IgG. who first came to my attention 3 years ago. At that time, she had low energy, abdominal pain and low-grade fevers (99.9-100.4). She also has asthma. There were no obvious findings on physical exam other than a skinny, sad, child. 
Her immune work-up revealed an IgG level of 260 with normal IgM and IgA levels. She has vaccine responses to strep pneumo, tetanus, and diphtheria. She had a normal total B cell count with switch to memory cells.
She was started on IVIG and her symptoms disappeared right away. She had to be maintained on IVIG Q2 weeks to keep her level > 600 to keep her asymptomatic. Her teachers even commented on how much better she was at school after starting the IVIG.
Last year, the family decided to come off the IVIG. Again her symptoms have returned. She is missing 2-3 days of school/week. She is having abdominal pain daily. She has no energy and feels the need to nap all the time (even at school).
Repeat immune testing is consistent with her previous testing with the low IgG being the only abnormality. In addition, she had B-cell immunophenotyping which was normal. Inflammatory markers (ESR and CRP were normal). CBC is normal. She does have a mildly low albumin that fluctuates from 2.9-3.
She has had an endoscopy, colonoscopy which were normal. Stool studies are normal. Urine micro and  urinalysis were normal.
It does not seem like a primary production issue. So, is she losing her IgG somewhere and if so, where? Where else should I be looking?
In the meantime, she is going to re-start her IVIG because it does seem to make a big difference in her overall health and quality of life.
Thank you for your thoughts.
-Evan

Evan Shereck, MD, MEd

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