[PAGID] an interesting case from Turkey

[Yesim Yilmaz]

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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