Disorder of the immune system, NOS: Difference between revisions

Line 18:

* Antisynthetase syndrome

* VEXAS syndrome- VEXAS syndrome is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The name VEXAS is an acronym deriving from the core features of disease:

**V: Vacuoles are often identified in the bone marrow stem cells of patients presenting with VEXAS.

V: Vacuoles are often identified in the bone marrow stem cells of patients presenting with VEXAS.

**E: The E1 ubiquitin conjugating enzyme encoded by the UBA1 gene is mutated in patients.

**X: The mutated UBA1 gene is located on the X-chromosome and thus the disease is almost exclusively found in individuals with XY chromosomes and thus said to be X-linked.

E: The E1 ubiquitin conjugating enzyme encoded by the UBA1 gene is mutated in patients.

**A: Patients with VEXAS present with a wide array of Autoinflammatory conditions

**S: The mutations which cause VEXAS are Somatic, meaning that they are acquired throughout life, not inherited, and unable to be passed onto one's offspring.

X: The mutated UBA1 gene is located on the X-chromosome and thus the disease is almost exclusively found in individuals with XY chromosomes and thus said to be X-linked.

A: Patients with VEXAS present with a wide array of Autoinflammatory conditions

S: The mutations which cause VEXAS are Somatic, meaning that they are acquired throughout life, not inherited, and unable to be passed onto one's offspring.

== Alternate ICD10s to consider coding instead or in addition ==

@@ Line 18: / Line 18: @@
 * Antisynthetase syndrome
 * VEXAS syndrome- VEXAS syndrome is an adult-onset autoinflammatory disease primarily affecting males, caused by a somatic mutation of the UBA1 gene in hematopoietic progenitor cells. The name VEXAS is an acronym deriving from the core features of disease:
+**V: Vacuoles are often identified in the bone marrow stem cells of patients presenting with VEXAS.
-V: Vacuoles are often identified in the bone marrow stem cells of patients presenting with VEXAS.
+**E: The E1 ubiquitin conjugating enzyme encoded by the UBA1 gene is mutated in patients.
+**X: The mutated UBA1 gene is located on the X-chromosome and thus the disease is almost exclusively found in individuals with XY chromosomes and thus said to be X-linked.
-E: The E1 ubiquitin conjugating enzyme encoded by the UBA1 gene is mutated in patients.
+**A: Patients with VEXAS present with a wide array of Autoinflammatory conditions
+**S: The mutations which cause VEXAS are Somatic, meaning that they are acquired throughout life, not inherited, and unable to be passed onto one's offspring.
-X: The mutated UBA1 gene is located on the X-chromosome and thus the disease is almost exclusively found in individuals with XY chromosomes and thus said to be X-linked.
-A: Patients with VEXAS present with a wide array of Autoinflammatory conditions
-S: The mutations which cause VEXAS are Somatic, meaning that they are acquired throughout life, not inherited, and unable to be passed onto one's offspring.
 == Alternate ICD10s to consider coding instead or in addition ==