Autosomal dominant familial periodic fever patient with a missense variant c.215G>A (p.Cys72Tyr) in TNFRSF1A gene presenting as neutrophilia

Author:

Rajpal Sweta,Jamwal ManuORCID,Lad DeepeshORCID,Das Reena

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference11 articles.

1. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes;Aganna;Arthritis Rheum.,2003

2. Periodic Fever: a review on clinical, management and guideline for Iranian patients - part I. Iran;Ahmadinejad;J. Pediatr.,2014

3. Periodic fever: a review on clinical, management and guideline for Iranian patients - Part II. Iran;Ahmadinejad;J. Pediatr.,2014

4. The tumor-necrosis-factor receptor–associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers;Aksentijevich;Am. J. Hum. Genet.,2001

5. Recurrent fever and arthralgia as the presentation of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Chinese girl: a case report and review of the literature;Chen;Clin. Rheumatol.,2018

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