[PAGID] an interesting case from Turkey

Yesim Yilmaz dryesimyilmaz at gmail.com
Sun Feb 21 22:07:51 EST 2010


thanks for noticing:

Igs were checked 3 times, IgG values were less than 300 mg/dl in all of them
(this is all I have)

the lymph. subpopulation: CD3 36%, CD8: 9 %, CD4: 30%, CD20: 44%, CD56/16:
14% (I will ask the absolute values)

thanks again,

Yeshim



2010/2/21 John Ziegler <j.ziegler at unsw.edu.au>


> -

> The Igs could be normal (if IgG close to 300 mg/dL). DO you have another

> quantitation. Could you confirm the units are mg/dL.

>

> Did you mean *CD3 36%* , CD4 9% CD8: 30 % (or CD8 9% CD4 30%) or something

> else.

>

>

> ------------------------------

> *From:* pagid-bounces at list.clinimmsoc.org [mailto:

> pagid-bounces at list.clinimmsoc.org] *On Behalf Of *Yesim Yilmaz

> *Sent:* Saturday, 20 February 2010 1:55 AM

>

> *To:* pagid at list.clinimmsoc.org

> *Subject:* [PAGID] an interesting case from Turkey

>

> Dear all,

>

> I am posting this interesting case for my former mentor in Turkey:

>

> the patient is a 10 month-old boy

> parents are fist cousins

> he was born at 36 wks EGA, stayed in NICU at a local hospital for unknown

> reasons, received his vaccinations including BCG, no complications.

> he started to have pneumonia, diarrhea, mucositis at 6 months of age,

> cultures were negative.

> his lenght & weight are below 3rd percentile

> other positive physical exam findings: ABSENT THUMB, FLAT FACE

>

> he frequently develops neutropenia during infections, responds to G-CSF

> very well

> never had thrombocytopenia or anemia

> MRI of the pancreas is normal, he doesn't have steatorrhea

> no bone abnormalities on X-ray

>

> *IgG <300 mg* , IgM:63 IgA:110 IgE 7 İU

> *CD3 36%* , CD49: % CD4: 30 % CD20 44 % CD 16/56 14 %

>

> normal albumin, no significant loss after IVIG.

>

>

> my mentor found only one case report similar to this case:

>

> Short stature, absent thumbs, flat facies, anosmia and combined immune

> deficiency (CID).<http://www.ncbi.nlm.nih.gov/pubmed/728551?itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pubmed_RVDocSum&ordinalpos=24>

>

> Shokeir MH.

>

> Birth Defects Orig Artic Ser. 1978;14(6A):103-16.

>

> thank you very much for any comments and input.

>

> Yeshim

>

>

>

> Yesim Yilmaz Demirdag, MD

>

> Assistant Professor

>

> Section of Allergy and Immunology

>

> Department of Pediatrics

>

> West Virginia University School of Medicine

>

> Morgantown, WV

>

> phone: (304) 293 1201

>

> e-mail: ydemirdag at hsc.wvu.edu

>

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