[CIS-PAGID] case

[dmvascon at usp.br]

Hi Jack, good morning

What about Autosomal dominant congenital neutropenias? ELANE and GFI1  
are possible.
How are her monocytes, are they elevated?
In the event of decreasing neutrophil counts may be interesting to  
evaluate response to G-CSF.

All the best,

Dewton Vasconcelos
University of São Paulo

Citando "Routes, John" <jroutes at mcw.edu>:


> Appreciate your thoughts on an difficult case.

>

>

> We were asked to evaluate a 6 week old female with past history of  male

> sibling who died at age 2 months from sudden "infant death syndrome".  Later

> autopsy demonstrated few klebsiella on culture from spleen but was otherwise

> normal.  Thymus and spleen were normal. Our patient also had a male cousin

> who died at age 6 months of strep pneumo sepsis. No autopsy on that child.

> No immune studies or cbcs on dead infants.

>

> Our infant has a completely normal history  and physical examination.

> So far evaluation shows-

> CBC-Neutropenic with serial values ranging from 500s to 1100.

> Flow--CD4-3714, CD8-1130, CD56-215, CD19 215 (low numbers of B cells,

> everything else normal, including normal numbers of naïve T cells).

> Normal IgG (maternal), IgA   <6 (1-40), IgM 9 (11-68).  Normal CH50,  TLR 4

> assay-normal induction TNF.   Started on amoxicillin prophylaxis.

>

> We will be getting dna from brother¹s autopsy.

>

> Other  testing?  Treatment? Management long term?

>

>

> thanks

> Jack

>

> John M. Routes, MD

> Chief, Section of Allergy and Clinical Immunology

> Co-Director, Clinical and Translational Science Institute of Southeast WI

> Professor of Pediatrics, Medicine, Microbiology and Molecular Genetics

> Department of Pediatrics

> Children's Hospital of Wisconsin

> Medical College of Wisconsin

> 9000 W. Wisconsin Ave.

> Milwaukee, WI  53226-4874

>

> Phone: 414-456-4802; 414-266-6997

> Fax: 414-456-6487 (Clinical)

> Fax: 414-456-6323 (Laboratory)

> Email: jroutes at mcw.edu

>

>

>

>