Literature summary for 2.7.1.36 extracted from

Sornsakrin, M.; Wenner, K.; Ganschow, R.
B cell cytopenia in two brothers with hyper-IgD and periodic fever syndrome (2008), Eur. J. Pediatr., 168, 825-831.

Search for more literature for 2.7.1.36

Application

Application	Comment	Organism
medicine	patients with hyperimmunoglobulinemia D and periodic fever syndrome due to mutations V377I/I268T. Patients developed significant B cell cytopenia with hypogammaglobulinemia. Therapy of prednisone, azathioprine, and intravenous immunoglobulins resulted in reduced incidence and severity of febrile attacks	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
V377I/I268T	mutation determined in patients with hyperimmunoglobulinemia D and periodic fever syndrome. Patients developed significant B cell cytopenia with hypogammaglobulinemia. Therapy of prednisone, azathioprine, and intravenous immunoglobulins resulted in reduced incidence and severity of febrile attacks	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	patients with hyperimmunoglobulinemia D and periodic fever syndrome	-

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Release 2023.1 (January 2023)