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Monogenic autoinflammatory syndrome

MedGen UID:
1376107
•Concept ID:
C4510988
•
Disease or Syndrome
SNOMED CT: Monogenic autoinflammatory syndrome (724593005)

Professional guidelines

PubMed

Current status of understanding the pathogenesis and management of patients with NOMID/CINCA.
Goldbach-Mansky R
Curr Rheumatol Rep 2011 Apr;13(2):123-31. doi: 10.1007/s11926-011-0165-y. PMID: 21538043Free PMC Article

Recent clinical studies

Etiology

Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry.
Comont T, Heiblig M, Rivière E, Terriou L, Rossignol J, Bouscary D, Rieu V, Le Guenno G, Mathian A, Aouba A, Vinit J, Dion J, Kosmider O, Terrier B, Georgin-Lavialle S, Fenaux P, Mekinian A; French VEXAS study group, Groupe Francophone des Myélodysplasies (GFM) and MedecineINterne, HEmato et ONco (MINHEMON) group
Br J Haematol 2022 Feb;196(4):969-974. Epub 2021 Oct 14 doi: 10.1111/bjh.17893. PMID: 34651299

Diagnosis

Histiocytoid Sweet Syndrome Presenting in Two Sisters With Deficiency of Deaminase Type 2.
Hui Ong EL, Cooray S, Brogan P, Calonje E
Am J Dermatopathol 2023 Jan 1;45(1):47-50. Epub 2022 Nov 2 doi: 10.1097/DAD.0000000000002286. PMID: 36484606
Approach to recurrent fever in childhood.
Soon GS, Laxer RM
Can Fam Physician 2017 Oct;63(10):756-762. PMID: 29025800Free PMC Article
Erysipelas-like erythema of familial Mediterranean fever syndrome: a case report with emphasis on histopathologic diagnostic clues.
Kolivras A, Provost P, Thompson CT
J Cutan Pathol 2013 Jun;40(6):585-90. Epub 2013 Mar 23 doi: 10.1111/cup.12132. PMID: 23521609

Therapy

Azacitidine for patients with Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic syndrome (VEXAS) and myelodysplastic syndrome: data from the French VEXAS registry.
Comont T, Heiblig M, Rivière E, Terriou L, Rossignol J, Bouscary D, Rieu V, Le Guenno G, Mathian A, Aouba A, Vinit J, Dion J, Kosmider O, Terrier B, Georgin-Lavialle S, Fenaux P, Mekinian A; French VEXAS study group, Groupe Francophone des Myélodysplasies (GFM) and MedecineINterne, HEmato et ONco (MINHEMON) group
Br J Haematol 2022 Feb;196(4):969-974. Epub 2021 Oct 14 doi: 10.1111/bjh.17893. PMID: 34651299
Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome.
Senniappan S, Hughes M, Shah P, Shah V, Kaski JP, Brogan P, Hussain K
J Pediatr Endocrinol Metab 2013;26(9-10):877-82. doi: 10.1515/jpem-2013-0062. PMID: 23729543
Current status of understanding the pathogenesis and management of patients with NOMID/CINCA.
Goldbach-Mansky R
Curr Rheumatol Rep 2011 Apr;13(2):123-31. doi: 10.1007/s11926-011-0165-y. PMID: 21538043Free PMC Article

Prognosis

Approach to recurrent fever in childhood.
Soon GS, Laxer RM
Can Fam Physician 2017 Oct;63(10):756-762. PMID: 29025800Free PMC Article

Clinical prediction guides

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome.
Senniappan S, Hughes M, Shah P, Shah V, Kaski JP, Brogan P, Hussain K
J Pediatr Endocrinol Metab 2013;26(9-10):877-82. doi: 10.1515/jpem-2013-0062. PMID: 23729543

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