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

[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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