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T-cell immunodeficiency with epidermodysplasia verruciformis

MedGen UID:
1648416
•Concept ID:
C4749500
•
Disease or Syndrome
Synonyms: T-cell immunodeficiency due to ras homolog family member H deficiency; T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency; T-cell immunodeficiency due to RHOH deficiency
SNOMED CT: T-cell immunodeficiency due to RHOH (ras homolog family member H) deficiency (770785002); T-cell immunodeficiency with epidermodysplasia verruciformis (770785002); T-cell immunodeficiency due to RHOH deficiency (770785002); T-cell immunodeficiency due to ras homolog family member H deficiency (770785002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017925
Orphanet: ORPHA324294

Definition

A rare primary immunodeficiency with characteristics of increased susceptibility to infection by human papillomavirus, presenting in childhood with disseminated flat wart-like cutaneous lesions. Burkitt lymphoma has also been reported. Whilst total T-cell counts are normal, there is impaired TCR signaling, profound peripheral naive T-cell lymphopenia with memory T-cells displaying an exhaustion phenotype. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • T-cell immunodeficiency with epidermodysplasia verruciformis

Recent clinical studies

Etiology

α- and β-papillomavirus infection in a young patient with an unclassified primary T-cell immunodeficiency and multiple mucosal and cutaneous lesions.
Landini MM, Borgogna C, Peretti A, Colombo E, Zavattaro E, Boldorini R, Miglio U, Doorbar J, Ravanini P, Kumar R, Moratto D, Badolato R, De Andrea M, Gariglio M
J Am Acad Dermatol 2014 Jul;71(1):108-15.e1. Epub 2014 Mar 4 doi: 10.1016/j.jaad.2014.01.859. PMID: 24612648
Lifelong severe verrucosis associated with human papillomavirus type 2: report of a case with a 38-year follow-up.
Requena L, Sarasa JL, Terai M, Sata T, Matsukura T
Br J Dermatol 1998 Dec;139(6):1081-6. doi: 10.1046/j.1365-2133.1998.02571.x. PMID: 9990378

Diagnosis

Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy.
Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, Metry D, Campbell J, Sockrider MM, Dishop MK, Scollard DM, Gibbs RA, Mace EM, Orange JS, Lupski JR, Casanova JL, Noroski LM
J Clin Immunol 2014 Oct;34(7):871-90. Epub 2014 Jul 30 doi: 10.1007/s10875-014-0074-8. PMID: 25073507Free PMC Article
α- and β-papillomavirus infection in a young patient with an unclassified primary T-cell immunodeficiency and multiple mucosal and cutaneous lesions.
Landini MM, Borgogna C, Peretti A, Colombo E, Zavattaro E, Boldorini R, Miglio U, Doorbar J, Ravanini P, Kumar R, Moratto D, Badolato R, De Andrea M, Gariglio M
J Am Acad Dermatol 2014 Jul;71(1):108-15.e1. Epub 2014 Mar 4 doi: 10.1016/j.jaad.2014.01.859. PMID: 24612648
Primary immunodeficiency diseases associated with increased susceptibility to viral infections and malignancies.
Rezaei N, Hedayat M, Aghamohammadi A, Nichols KE
J Allergy Clin Immunol 2011 Jun;127(6):1329-41.e2; quiz 1342-3. Epub 2011 Apr 22 doi: 10.1016/j.jaci.2011.02.047. PMID: 21514636
Epidermodysplasia verruciformis in human immunodeficiency virus-infected patients: a marker of human papillomavirus-related disorders not affected by antiretroviral therapy.
Jacobelli S, Laude H, Carlotti A, Rozenberg F, Deleuze J, Morini JP, Franck N, Gorin I, Avril MF, Dupin N
Arch Dermatol 2011 May;147(5):590-6. Epub 2011 Jan 17 doi: 10.1001/archdermatol.2010.399. PMID: 21242344
Partial defects of cell-mediated immunity in patients with epidermodysplasia verruciformis.
Majewski S, Skopinska-Rozewska E, Jabłonska S, Wasik M, Misiewicz J, Orth G
J Am Acad Dermatol 1986 Nov;15(5 Pt 1):966-73. doi: 10.1016/s0190-9622(86)70258-2. PMID: 3491095

Therapy

Inherited Interleukin 2-Inducible T-Cell (ITK) Kinase Deficiency in Siblings With Epidermodysplasia Verruciformis and Hodgkin Lymphoma.
Youssefian L, Vahidnezhad H, Yousefi M, Saeidian AH, Azizpour A, Touati A, Nikbakht N, Hesari KK, Adib-Sereshki MM, Zeinali S, Mansoori B, Jazayeri A, Karamzadeh R, Fortina P, Jouanguy E, Casanova JL, Uitto J
Clin Infect Dis 2019 May 17;68(11):1938-1941. doi: 10.1093/cid/ciy942. PMID: 30778533Free PMC Article
Additional diverse findings expand the clinical presentation of DOCK8 deficiency.
Sanal O, Jing H, Ozgur T, Ayvaz D, Strauss-Albee DM, Ersoy-Evans S, Tezcan I, Turkkani G, Matthews HF, Haliloglu G, Yuce A, Yalcin B, Gokoz O, Oguz KK, Su HC
J Clin Immunol 2012 Aug;32(4):698-708. Epub 2012 Apr 4 doi: 10.1007/s10875-012-9664-5. PMID: 22476911Free PMC Article
CD4+ T lymphocytopenia with disseminated HPV.
Stetson CL, Rapini RP, Tyring SK, Kimbrough RC
J Cutan Pathol 2002 Sep;29(8):502-5. doi: 10.1034/j.1600-0560.2002.290809.x. PMID: 12207745
Epidermodysplasia verruciformis: response to therapy with dialyzable leukocyte extract (transfer factor) derived from household contacts.
Vasily DB, Miller OF, Fudenberg HH, Goust JM, Wilson GB
J Clin Lab Immunol 1984 May;14(1):49-57. PMID: 6086930

Prognosis

Recurrent 'sterile' verrucous cyst abscesses and epidermodysplasia verruciformis-like eruption associated with idiopathic CD4 lymphopenia.
Tobin E, Rohwedder A, Holland SM, Philips B, Carlson JA
Br J Dermatol 2003 Sep;149(3):627-33. doi: 10.1046/j.1365-2133.2003.05543.x. PMID: 14511000
Lifelong severe verrucosis associated with human papillomavirus type 2: report of a case with a 38-year follow-up.
Requena L, Sarasa JL, Terai M, Sata T, Matsukura T
Br J Dermatol 1998 Dec;139(6):1081-6. doi: 10.1046/j.1365-2133.1998.02571.x. PMID: 9990378

Clinical prediction guides

A Novel Homozygous RHOH Variant Associated with T Cell Dysfunction and Recurrent Opportunistic Infections.
Zhou J, Qian M, Jiang N, Wu J, Feng X, Yu M, Min Q, Xu H, Yang Y, Yang Q, Zhou F, Shao L, Zhu H, Yang Y, Wang JY, Ruan Q, Zhang W
J Clin Immunol 2024 May 22;44(6):131. doi: 10.1007/s10875-024-01735-4. PMID: 38775840
Epidermodysplasia verruciformis in human immunodeficiency virus-infected patients: a marker of human papillomavirus-related disorders not affected by antiretroviral therapy.
Jacobelli S, Laude H, Carlotti A, Rozenberg F, Deleuze J, Morini JP, Franck N, Gorin I, Avril MF, Dupin N
Arch Dermatol 2011 May;147(5):590-6. Epub 2011 Jan 17 doi: 10.1001/archdermatol.2010.399. PMID: 21242344
Depressed immune function in epidermodysplasia verruciformis.
Prawer SE, Pass F, Vance JC, Greenberg LJ, Yunis EJ, Zelickson AS
Arch Dermatol 1977 Apr;113(4):495-9. PMID: 848981

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