[CIS-PAGID] PTCL in boy with humoral immunodeficiency and growth retardation

[Michael Albert]

Lieber Markus,
I would also suggest a radiosensitivity assay as the definitive next step!
Grüße aus München,
Michael

*PD Dr. med. Michael Albert***

Oberarzt

Abteilung für Pädiatrische Hämatologie/Onkologie

Leiter der Stammzelltransplantation

Dr. von Haunersches Kinderspital der LMU

Lindwurmstr.4

80337 München

Tel: 089 5160 2785

Fax: 089 5160 4719

On Wed, Apr 6, 2011 at 4:00 PM, Dewton Vasconcelos <dmvascon at usp.br> wrote:


> Dear Professor Seidel

>

> Initially I thought about the possibility of a X-linked

> hypogammaglobulinemia with growth hormone deficiency (probably associated to

> mutations in MEF, a gene that controls the activity of CD79 and GH-1 genes).

> Thinking a little bit more, I thought about the possibility of STAT-5b

> (that usually does not respond to GH), NBS, Bloom, Cernunnos and Lig4, DK

> and Hoyeraal-Hreidarsson - these last ones could be screened by looking at

> the size of telomeres. Certainly a radiosensitivity assay is really

> important.

>

> Best regards,

>

> Dewton Vasconcelos

>

>

> Dewton de Moraes Vasconcelos, MD, PhD

> University of São Paulo School of Medicine Department of Dermatology

> Lab. of Medical Investigation in Dermatology and Immunodeficiencies - LIM56

>

> Dermatological Manifestations of Primary Immunodeficiencies Outpatient Unit

> ADEE-3003

>

> Seidel Markus wrote:

>

>  Dear Experts,

>

> we are currently treating a second patient within a year with a

> panniculitis-like subcutaneous peripheral T cell lymphoma, the first of whom

> had a 22q11 Syndrome, the second a yet undefined immunodeficiency with

> postnatal growth retardation (successfully treated with gh-substitution

> until recently!), borderline (proportional !) microcephaly, red-hair,

> freckles, unilateral polycystic dysplastic kidney, no larger café-au-lait

> spots, no facial or skeletal abnormalities, no family history, normal

> intelligence, no signs of other endocrinologic abnormalities; a history of

> recurrent bacterial infections until initiation of Ig-substitution years ago

> (now 12 years old when diagnosed with the PTCL) and recurrent erythema

> nodosum that responds to steroids.

>

> He has Austrian non-consanguineous parents, negative family history, but

> since his infancy pronounced hypogammaglobulinemia, low B cells (around

> 40-60), normal csm-B-cells, normal T cell counts and surface phenotype,

> reduced T cell proliferation upon CD3 and PHA stimulation but normal

> response to other stimuli, borderline low NK cells (around 80), normal

> granulocytes.

>

> We found a probably irrelevant intronic mutation in Btk but have not yet

> analysed other genetic aberrations. A SNP array showed LOH in one of the

> Fanconi anemia genes (birc5), but DEB test was normal; 22q11 appears to be

> excluded by this assay. Radiosensitivity not done yet. But so far, he is

> doing well under chemotherapy, the PTCL responded, hematologic

> reconstitution after ct-cycles is normal.

>

> Does anyone have other ideas except the costly genetic tests for (unlikely)

> NBS, Lig4, XLF, Hoyeraal-Hreidarsson, DK…, which might end up doing step by

> step? Alpha-Fetoprotein not yet done.

>

> Thanks for your help and interest,

>

> Sincerely yours,

>

> Markus Seidel

>

>

>

> *Markus G. Seidel, M.D.**

> **Assoc. Prof. of Pediatrics**

> *Specialist in Pediatric Hematology/Oncology

> Focus Immunology & Stem Cell Transplantation

> Co-Chair of the Austrian Working Party for Pediatric Immunology

> St. Anna Kinderspital and Children's Cancer Research Institute

> Kinderspitalgasse 6

> A-1090 Wien; Austria, EU

> Tel 43-1-40170-2800; Fax 43-1-40170-7280

>

>

>

>

>

>

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