[PAGID] XLA pt with acute myelogenous leukemia

[Christine Seroogy, M.D.]

Dear Mel,

I took care of a patient with a similar story a number of years ago.  This
was before BTK analysis was readily available.  Cytogenetics revealed
monosomy 7 in his bone marrow.  We looked for BTK at that time and it was
normal.  The St. Jude group published a paper a number of years ago
describing monosomy 7 with low B cell numbers and hypogammaglobulinemia:

Hypogammaglobulinemia and reduced numbers of B-cells in children with
myelodysplastic syndrome.
Srivannaboon K, Conley ME, Coustan-Smith E, Wang WC.
J Pediatr Hematol Oncol. 2001 Feb;23(2):122-5.
PMID: 11216704 [PubMed - indexed for MEDLINE]
Related citations

Chris


Christine M. Seroogy MD, FAAP, FAAAAI
Associate Professor
University of Wisconsin
Department of Pediatrics
Division of Allergy, Immunology & Rheumatology
1111 Highland Avenue
4139 WIMR
Madison, WI  53705-2275
phone: 608-263-2652
fax: 608-265-9721

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On 8/18/10 11:27 AM, "Berger, Melvin" <Melvin.Berger at UHhospitals.org> wrote:


> Colleagues- I have heard thru a grapevine that a former patient of mine, now

> 10 years old, diagnosed with XLA at 5 years of age has recently presented with

> a several month history of progressive pancytopenia. He is clinically pretty

> well with no bleeding or apparent splenomegaly, but bone marrow was full of

> blasts dramatically posuitive for Auer rords. Family is looking back to see if

> his original BTK mutation was defined (I no longer have access to his chart).

> No apparent exceptional family history of cancer, hematologic problems or

> other cases of XLA.

>  

> Does this ring any bells ?

>  

> Thanks.

>  

> Melvin Berger, M.D., Ph.D.

> Adjunct Professor of Pediatrics and Pathology

> Case Western Reserve University

> Cleveland, OH 44106

> 


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