[CIS PIDD] [cis-pidd] VS: 13yo F with progressive hypogam

Thu Apr 28 03:52:48 EDT 2016

Hi Joe,

Like Michael suggests, LIG4 phenotype may vary a lot, see Gigi's very recent article in the latest JoCI.

...as well as a.o. Kabuki, Jacobsen (both can have GH def, have not heard of GH resistance though) ...

NK count is really high if T counts are normal...? LGL lymphoproliferation?

Dysmorphic = collaboration with clinical geneticists will save you all a lot of money...

Mikko

oyl Mikko Seppänen
Harvinaissairauksien yksikkö (HAKE), HUS

Mikko Seppänen, MD, PhD, Associate professor
Specialist in Internal Medicine and Infectious Diseases
Head, Rare Disease Center, Helsinki University Hospital (HUH)
Children's Hospital, P.O.Box 280
FI-00029 HUS
FINLAND
&
Senior Consultant (PIDD)
Adult Immunodeficiency Unit
Inflammation Center, HUH

phone +358 9 47180201
GSM +358 50 4279606
fax +358 9 47174703

Lähettäjä: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Lähetetty: 28. huhtikuuta 2016 10:27
Vastaanottaja: CIS-PIDD <cis-pidd at lyris.dundee.net>
Aihe: [cis-pidd] AW: 13yo F with progressive hypogam

Dear Joe,
Is her head circumference low as well? I would definitely rule out DNA-Ligase IV (growth failure, B-cell deficiency), followed by things such as NBS, XLF, ....
Too bad you cannot post fotos here. But you can compare hers to the ones in this paper.

Hum Mutat.<http://www.ncbi.nlm.nih.gov/pubmed/?term=ligase+IV+albert> 2014 Jan;35(1):76-85. doi: 10.1002/humu.22461. Epub 2013 Nov 8.
Extreme growth failure is a common presentation of ligase IV deficiency.
Murray JE<http://www.ncbi.nlm.nih.gov/pubmed/?term=Murray%20JE%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>1, Bicknell LS<http://www.ncbi.nlm.nih.gov/pubmed/?term=Bicknell%20LS%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Yigit G<http://www.ncbi.nlm.nih.gov/pubmed/?term=Yigit%20G%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Duker AL<http://www.ncbi.nlm.nih.gov/pubmed/?term=Duker%20AL%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, van Kogelenberg M<http://www.ncbi.nlm.nih.gov/pubmed/?term=van%20Kogelenberg%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Haghayegh S<http://www.ncbi.nlm.nih.gov/pubmed/?term=Haghayegh%20S%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Wieczorek D<http://www.ncbi.nlm.nih.gov/pubmed/?term=Wieczorek%20D%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Kayserili H<http://www.ncbi.nlm.nih.gov/pubmed/?term=Kayserili%20H%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Albert MH<http://www.ncbi.nlm.nih.gov/pubmed/?term=Albert%20MH%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Wise CA<http://www.ncbi.nlm.nih.gov/pubmed/?term=Wise%20CA%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Brandon J<http://www.ncbi.nlm.nih.gov/pubmed/?term=Brandon%20J%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Kleefstra T<http://www.ncbi.nlm.nih.gov/pubmed/?term=Kleefstra%20T%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Warris A<http://www.ncbi.nlm.nih.gov/pubmed/?term=Warris%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, van der Flier M<http://www.ncbi.nlm.nih.gov/pubmed/?term=van%20der%20Flier%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Bamforth JS<http://www.ncbi.nlm.nih.gov/pubmed/?term=Bamforth%20JS%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Doonanco K<http://www.ncbi.nlm.nih.gov/pubmed/?term=Doonanco%20K%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Adès L<http://www.ncbi.nlm.nih.gov/pubmed/?term=Ad%C3%A8s%20L%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Ma A<http://www.ncbi.nlm.nih.gov/pubmed/?term=Ma%20A%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Field M<http://www.ncbi.nlm.nih.gov/pubmed/?term=Field%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Johnson D<http://www.ncbi.nlm.nih.gov/pubmed/?term=Johnson%20D%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Shackley F<http://www.ncbi.nlm.nih.gov/pubmed/?term=Shackley%20F%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Firth H<http://www.ncbi.nlm.nih.gov/pubmed/?term=Firth%20H%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Woods CG<http://www.ncbi.nlm.nih.gov/pubmed/?term=Woods%20CG%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Nürnberg P<http://www.ncbi.nlm.nih.gov/pubmed/?term=N%C3%BCrnberg%20P%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Gatti RA<http://www.ncbi.nlm.nih.gov/pubmed/?term=Gatti%20RA%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Hurles M<http://www.ncbi.nlm.nih.gov/pubmed/?term=Hurles%20M%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Bober MB<http://www.ncbi.nlm.nih.gov/pubmed/?term=Bober%20MB%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Wollnik B<http://www.ncbi.nlm.nih.gov/pubmed/?term=Wollnik%20B%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>, Jackson AP<http://www.ncbi.nlm.nih.gov/pubmed/?term=Jackson%20AP%5BAuthor%5D&cauthor=true&cauthor_uid=24123394>.

Best,
Michael Albert

Von: CIS-PIDD [mailto:cis-pidd at lists.clinimmsoc.org]
Gesendet: Donnerstag, 28. April 2016 02:20
An: CIS-PIDD
Betreff: [cis-pidd] 13yo F with progressive hypogam

Colleagues:

I have followed a 13yo girl since she was 7yo.  She had recurrent otitis, URIs and pneumonias.  She was also very small for age with a dysmorphic facies but normal development.

At her initial evaluation she had the following:
            IgG 486, IgA 41, IgM 233
            Protective antibody responses to tetanus and Hib immunizations
            No response at all to Pneumovax.
            T-cell number and mitogen responses were normal.
            B-cells were 1% (?)
            NK cells were elevated at 49%
            STAT5b heterozygosity for a novel SNP in the 3'UTR (I was assured that since the patient's T-cells were OK, the STAT5b variant was not the cause of her immune deficiency.

She has done reasonably well on IVIg replacement.  However she has not grown normally and appears to be resistant to growth hormone and IGF.  Recently her trough IgG dropped from a usual 800-1000 to 489.  There was no clinical evidence of protein loss.  Additionally, her IgA and IgM were now undetectable.  B-cell subsets showed no switched or switched memory cells, naïve B-cells of 24%, and a large population of
CD19+IgM-CD27+ cells.

Before I call her back for more extensive lymphocyte flow studies and evaluation for protein loss, I would appreciate any suggestions for additional tests.

Thanks.

Joe Church

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