Month: July 2020

Hypercorticolism due to Thymic tumour and secondary antibody deficiency

Case Report / By

Reference: Sarcevic, J., Berger, C. T., Cavelti-Weder, C., & Trendelenburg, M. (2020). Case report-Secondary Antibody Deficiency due to Endogenous Hypercortisolism. Frontiers in Immunology, 11, 1435. Take Home Message: Authors report a young adult with ACTH producing thymic tumour with elevated cortisol levels with extensive immunological work up that replicated the effect of corticosteroid therapy leading to a …

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CD27 and CD70 deficiency, its clinical and immunophenotype and transplant outcomes

Diseases of Immunedysregulation / By

Reference: Ghosh, Sujal, et al. “Extended clinical and immunological phenotype and transplant outcome in CD27 and CD70 deficiency.” Blood (2020). Journal: Blood Summary: 33 CD27 deficiency and 16 CD 70 deficiency patients from ESID and EBMT registries were retrospectively evaluated and long term follow-up was done Mean age of patients was 18.8 years and 16.7 years for …

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Post transplantation follow-up in a case of NFKBIA deficient patient

Case Report / By

Reference: Conti, F., Carsetti, R., Casanova, J. et al. A 23-Year Follow-Up of a Patient with Gain-of-Function IkB-Alpha Mutation and Stable Full Chimerism After Hematopoietic Stem Cell Transplantation. J Clin Immunol (2020). Published: 2 July 2020 Summary: A long term clinical and immunological follow up of patient with NFKBIA mutation with full donor chimerism post HSCT and …

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Splenic Arterial embolization in ALPS post splenic rupture

Case Report / By

Reference: Kohrogi, K., Migita, M., Anan, T. et al. Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture. J Clin Immunol (2020). Published: 25 June 2020 Summary: Authors describe management and differential diagnosis of splenic rupture post splenomegaly in an ALPS patient  Take Home Message: Pre-emptive splenic arterial embolization may be …

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CTLA4 Haploinsufficiency presenting with Classic Kaposi’s Sarcoma and its response to Everolimus

Case Report / By

  Reference: Yap, J.Y., Gloss, B., Batten, M. et al. Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency. J Clin Immunol (2020) Published: 19 June 2020 Journal: Journal of Clinical Immunology Summary: A CTLA4 haploinsufficient patient with cryptic splice site mutation who presented with classical Kaposi’s sarcoma and the therapeutic response to …

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