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Anemia, X-Linked, without Thrombocytopenia

MedGen UID:
463135
•Concept ID:
C3151785
•
Disease or Syndrome

Professional guidelines

PubMed

Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment.
Seidel MG
Blood 2014 Oct 9;124(15):2337-44. Epub 2014 Aug 27 doi: 10.1182/blood-2014-06-583260. PMID: 25163701Free PMC Article

Recent clinical studies

Etiology

Spectrum of clonal hematopoiesis in VEXAS syndrome.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, Alessi H, Finke C, Koster MJ, Mangaonkar A, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha D, Ferrada M, Wilson L, Go R, Kourelis T, Reichard K, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Rosenzweig S, Calado RT, Groarke EM, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM
Blood 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774. PMID: 37084382Free PMC Article
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Autoimmunity in primary immune deficiency: taking lessons from our patients.
Cunningham-Rundles C
Clin Exp Immunol 2011 Jun;164 Suppl 2(Suppl 2):6-11. doi: 10.1111/j.1365-2249.2011.04388.x. PMID: 21466546Free PMC Article
Prophylactic platelet transfusion in children with thrombocytopenic disorders: a retrospective review.
Ferrara M, Capozzi L, Coppola A, Save G, Coppola L
Hematology 2007 Aug;12(4):297-9. doi: 10.1080/10245330701255213. PMID: 17654055

Diagnosis

VEXAS syndrome: An update.
Khitri MY, Hadjadj J, Mekinian A, Jachiet V
Joint Bone Spine 2024 Jul;91(4):105700. Epub 2024 Feb 1 doi: 10.1016/j.jbspin.2024.105700. PMID: 38307404
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
VEXAS syndrome with severe multisystem involvement: Rapid recovery after splenectomy.
Yildirim F, Erdogan M, Yalcin Mutlu M, Akkuzu G, Ozgur DS, Karaalioglu B, Ayer M, Bes C
Int J Rheum Dis 2023 Mar;26(3):559-562. Epub 2022 Dec 21 doi: 10.1111/1756-185X.14540. PMID: 36544349
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074

Therapy

VEXAS syndrome with severe multisystem involvement: Rapid recovery after splenectomy.
Yildirim F, Erdogan M, Yalcin Mutlu M, Akkuzu G, Ozgur DS, Karaalioglu B, Ayer M, Bes C
Int J Rheum Dis 2023 Mar;26(3):559-562. Epub 2022 Dec 21 doi: 10.1111/1756-185X.14540. PMID: 36544349
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Successful treatment of refractory immune hemolysis following unrelated cord blood transplant with Campath-1H.
Chao MM, Levine JE, Ferrara JL, Cooling L, Cooke KR, Hutchinson RJ, Yanik GA
Pediatr Blood Cancer 2008 Apr;50(4):917-9. doi: 10.1002/pbc.21187. PMID: 17417790
Prophylactic platelet transfusion in children with thrombocytopenic disorders: a retrospective review.
Ferrara M, Capozzi L, Coppola A, Save G, Coppola L
Hematology 2007 Aug;12(4):297-9. doi: 10.1080/10245330701255213. PMID: 17654055
Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis.
Zammarchi E, Donati MA, Tucci F, Fonda C, Fanelli F, Pazzaglia R
Brain Dev 1994 May-Jun;16(3):238-40. doi: 10.1016/0387-7604(94)90077-9. PMID: 7943611

Prognosis

Spectrum of clonal hematopoiesis in VEXAS syndrome.
Gutierrez-Rodrigues F, Kusne Y, Fernandez J, Lasho T, Shalhoub R, Ma X, Alessi H, Finke C, Koster MJ, Mangaonkar A, Warrington KJ, Begna K, Xie Z, Ombrello AK, Viswanatha D, Ferrada M, Wilson L, Go R, Kourelis T, Reichard K, Olteanu H, Darden I, Hironaka D, Alemu L, Kajigaya S, Rosenzweig S, Calado RT, Groarke EM, Kastner DL, Calvo KR, Wu CO, Grayson PC, Young NS, Beck DB, Patel BA, Patnaik MM
Blood 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774. PMID: 37084382Free PMC Article
VEXAS syndrome with severe multisystem involvement: Rapid recovery after splenectomy.
Yildirim F, Erdogan M, Yalcin Mutlu M, Akkuzu G, Ozgur DS, Karaalioglu B, Ayer M, Bes C
Int J Rheum Dis 2023 Mar;26(3):559-562. Epub 2022 Dec 21 doi: 10.1111/1756-185X.14540. PMID: 36544349
Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1.
Obiorah IE, Patel BA, Groarke EM, Wang W, Trick M, Ombrello AK, Ferrada MA, Wu Z, Gutierrez-Rodrigues F, Lotter J, Wilson L, Hoffmann P, Cardona DO, Patel N, Dulau-Florea A, Kastner DL, Grayson PC, Beck DB, Young NS, Calvo KR
Blood Adv 2021 Aug 24;5(16):3203-3215. doi: 10.1182/bloodadvances.2021004976. PMID: 34427584Free PMC Article
Prophylactic platelet transfusion in children with thrombocytopenic disorders: a retrospective review.
Ferrara M, Capozzi L, Coppola A, Save G, Coppola L
Hematology 2007 Aug;12(4):297-9. doi: 10.1080/10245330701255213. PMID: 17654055
Acute onset of X-linked adrenoleukodystrophy mimicking encephalitis.
Zammarchi E, Donati MA, Tucci F, Fonda C, Fanelli F, Pazzaglia R
Brain Dev 1994 May-Jun;16(3):238-40. doi: 10.1016/0387-7604(94)90077-9. PMID: 7943611

Clinical prediction guides

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
Beck DB, Bodian DL, Shah V, Mirshahi UL, Kim J, Ding Y, Magaziner SJ, Strande NT, Cantor A, Haley JS, Cook A, Hill W, Schwartz AL, Grayson PC, Ferrada MA, Kastner DL, Carey DJ, Stewart DR
JAMA 2023 Jan 24;329(4):318-324. doi: 10.1001/jama.2022.24836. PMID: 36692560Free PMC Article
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.
Bastida JM, Malvestiti S, Boeckelmann D, Palma-Barqueros V, Wolter M, Lozano ML, Glonnegger H, Benito R, Zaninetti C, Sobotta F, Schilling FH, Morgan NV, Freson K, Rivera J, Zieger B
Cells 2022 Oct 14;11(20) doi: 10.3390/cells11203223. PMID: 36291092Free PMC Article
Somatic Mutations in UBA1 Define a Distinct Subset of Relapsing Polychondritis Patients With VEXAS.
Ferrada MA, Sikora KA, Luo Y, Wells KV, Patel B, Groarke EM, Ospina Cardona D, Rominger E, Hoffmann P, Le MT, Deng Z, Quinn KA, Rose E, Tsai WL, Wigerblad G, Goodspeed W, Jones A, Wilson L, Schnappauf O, Laird RS, Kim J, Allen C, Sirajuddin A, Chen M, Gadina M, Calvo KR, Kaplan MJ, Colbert RA, Aksentijevich I, Young NS, Savic S, Kastner DL, Ombrello AK, Beck DB, Grayson PC
Arthritis Rheumatol 2021 Oct;73(10):1886-1895. Epub 2021 Aug 31 doi: 10.1002/art.41743. PMID: 33779074
Platelet pathology in sex-linked GATA-1 dyserythropoietic macrothrombocytopenia I ultrastructure.
White JG, Nichols WL, Steensma DP
Platelets 2007 Jun;18(4):273-83. doi: 10.1080/09537100601065825. PMID: 17538848
WASP and the phenotypic range associated with deficiency.
Notarangelo LD, Notarangelo LD, Ochs HD
Curr Opin Allergy Clin Immunol 2005 Dec;5(6):485-90. doi: 10.1097/01.all.0000191243.25757.ce. PMID: 16264326

Recent systematic reviews

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review.
Park JH, Lee KH, Jeon B, Ochs HD, Lee JS, Gee HY, Seo S, Geum D, Piccirillo CA, Eisenhut M, van der Vliet HJ, Lee JM, Kronbichler A, Ko Y, Shin JI
Autoimmun Rev 2020 Jun;19(6):102526. Epub 2020 Mar 29 doi: 10.1016/j.autrev.2020.102526. PMID: 32234571

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