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

[Elisabeth Förster-Waldl]

Dear collegue,
I now would suggest Btk-i.c.staining, and radiosensitivity assays ...
- bin neugierig was die anderen sagen,
und auch toll dass PAGID nun weiss, dass es uns gibt "Austrian Working Party for Pediatric Immunology" !!
bis bald,
LG
Elisabeth

Am 06.04.2011 um 15:20 schrieb Seidel Markus:


> 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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