INTERESTING!!!!! ARTICLE

[Guest guest]

As you know, my boys have Shwachman-Diamond Syndrome.. and get IVIG/SCIG. I

thought that you guys on the PID list might be interested in this article.

I am working on getting the full-text article

Clin Exp <javascript:AL_get(this,%20'jour',%20'Clin%20Exp%20Immunol.');>

Immunol. 2008 Jan 10 [Epub ahead of print]

Some cases of common variable immunodeficiency may be due to a mutation in

the SBDS gene of Shwachman-Diamond syndrome.

<http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed & Cmd=Search & Term=%22Khan%

20S%22%5BAuthor%5D & itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.Pu

bmed_RVAbstractPlus> Khan S,

<http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed & Cmd=Search & Term=%22Hinks

%20J%22%5BAuthor%5D & itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.P

ubmed_RVAbstractPlus> Hinks J,

<http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed & Cmd=Search & Term=%22Short

o%20J%22%5BAuthor%5D & itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel.

Pubmed_RVAbstractPlus> Shorto J,

<http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed & Cmd=Search & Term=%22Schwa

rz%20MJ%22%5BAuthor%5D & itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPane

l.Pubmed_RVAbstractPlus> Schwarz MJ,

<http://www.ncbi.nlm.nih.gov/sites/entrez?Db=pubmed & Cmd=Search & Term=%22Sewel

l%20WA%22%5BAuthor%5D & itool=EntrezSystem2.PEntrez.Pubmed.Pubmed_ResultsPanel

..Pubmed_RVAbstractPlus> Sewell WA.

Path Links Immunology, Scunthorpe General Hospital, Scunthorpe, N. Lincs,

UK.

Known genetic defects currently account for only a small proportion of

patients meeting criteria for 'probable' or 'possible' common variable

immunodeficiency (CVID). A 59-year-old male with a 12-year history of CVID

on intravenous immunoglobulin (IVIG) is presented who developed

bronchiectasis, cytopenias and malabsorption that are recognized

complications of CVID. Work-up for his malabsorption suggested the

possibility of Shwachman-Diamond syndrome, confirmed by mutation testing.

With the identification of the molecular defect in Shwachman-Diamond

syndrome (SDS), it is becoming clear that not all SDS patients have the

prominent features of neutropenia or pancreatic malabsorption. A

meta-analysis of published immunological defects in SDS suggests that four

of 14 hypogammaglobulinaemic SDS patients meet criteria for 'possible' CVID.

Mutations in the SBDS gene may therefore be the fifth identified molecular

defect in CVID.

PMID: 18190602 [PubMed - as supplied by publisher]

Peace be with you,

Pattie

History doesn't repeat itself, but it does rhyme. ~ Mark Twain