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Warts, hypogammaglobulinemia, infections, and myelokathexis

MedGen UID:
96875
Concept ID:
C0472817
Disease or Syndrome
Synonym: WHIM syndrome
SNOMED CT: WHIM - Warts, hypogammaglobulinemia, infections and myelokathexis (234571003); Warts, hypogammaglobulinemia, infections, and myelokathexis (234571003)
 
Monarch Initiative: MONDO:0023880
OMIM®: 193670
OMIM® Phenotypic series: PS193670

Definition

An autosomal dominant immunodeficiency syndrome caused by mutation(s) in the CXCR4 gene, encoding C-X-C chemokine receptor type 4. It is characterized by neutropenia, hypogammaglobulinemia, extensive human papillomavirus (HPV) infection, and myelokathexis. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVWarts, hypogammaglobulinemia, infections, and myelokathexis
Follow this link to review classifications for Warts, hypogammaglobulinemia, infections, and myelokathexis in Orphanet.

Professional guidelines

PubMed

Yilmaz M, Potts DE, Geier C, Walter JE
Am J Med Genet C Semin Med Genet 2022 Jun;190(2):215-221. Epub 2022 Oct 9 doi: 10.1002/ajmg.c.32002. PMID: 36210583
McDermott DH, Murphy PM
Immunol Rev 2019 Jan;287(1):91-102. doi: 10.1111/imr.12719. PMID: 30565238
Cao Y, Hunter ZR, Liu X, Xu L, Yang G, Chen J, Patterson CJ, Tsakmaklis N, Kanan S, Rodig S, Castillo JJ, Treon SP
Leukemia 2015 Jan;29(1):169-76. Epub 2014 Jun 10 doi: 10.1038/leu.2014.187. PMID: 24912431

Recent clinical studies

Etiology

Bidkhori HR, Bahrami AR, Farshchian M, Heirani-Tabasi A, Mirahmadi M, Hasanzadeh H, Ahmadiankia N, Faridhosseini R, Dastpak M, Shabgah AG, Matin MM
Cell Transplant 2021 Jan-Dec;30:9636897211054498. doi: 10.1177/09636897211054498. PMID: 34807749Free PMC Article
Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R
J Allergy Clin Immunol Pract 2019 May-Jun;7(5):1568-1577. Epub 2019 Feb 2 doi: 10.1016/j.jaip.2019.01.045. PMID: 30716504
Badolato R, Donadieu J; WHIM Research Group
Blood 2017 Dec 7;130(23):2491-2498. Epub 2017 Oct 24 doi: 10.1182/blood-2017-02-708552. PMID: 29066537
Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli F, Notarangelo LD, Bertrand Y, Bachelerie F, Donadieu J
J Pediatr 2012 Oct;161(4):763-5. Epub 2012 Jun 27 doi: 10.1016/j.jpeds.2012.05.058. PMID: 22748845Free PMC Article
Imashuku S, Miyagawa A, Chiyonobu T, Ishida H, Yoshihara T, Teramura T, Kuriyama K, Imamura T, Hibi S, Morimoto A, Todo S
Ann Hematol 2002 Aug;81(8):470-3. Epub 2002 Jul 20 doi: 10.1007/s00277-002-0489-9. PMID: 12224006

Diagnosis

Walkovich K, Grunebaum E
J Allergy Clin Immunol Pract 2022 Jul;10(7):1714-1722. Epub 2022 Apr 22 doi: 10.1016/j.jaip.2022.04.004. PMID: 35470097
Heusinkveld LE, Majumdar S, Gao JL, McDermott DH, Murphy PM
J Clin Immunol 2019 Aug;39(6):532-556. Epub 2019 Jul 16 doi: 10.1007/s10875-019-00665-w. PMID: 31313072Free PMC Article
Majumdar S, Murphy PM
Int J Mol Sci 2018 Dec 20;20(1) doi: 10.3390/ijms20010003. PMID: 30577453Free PMC Article
Badolato R, Donadieu J; WHIM Research Group
Blood 2017 Dec 7;130(23):2491-2498. Epub 2017 Oct 24 doi: 10.1182/blood-2017-02-708552. PMID: 29066537
Dotta L, Tassone L, Badolato R
Curr Mol Med 2011 Jun;11(4):317-25. doi: 10.2174/156652411795677963. PMID: 21506920

Therapy

Majumdar S, Pontejo SM, Jaiswal H, Gao JL, Salancy A, Stassenko E, Yamane H, McDermott DH, Balabanian K, Bachelerie F, Murphy PM
J Immunol 2023 Jun 15;210(12):1913-1924. doi: 10.4049/jimmunol.2200871. PMID: 37133343Free PMC Article
Merati N, Sivachandran S, Jfri A, Ben-Shoshan M, Vinh DC, Popradi G, Litvinov IV
Skin Therapy Lett 2022 Mar;27(2):1-5. PMID: 35385630
Scala S
Clin Cancer Res 2015 Oct 1;21(19):4278-85. Epub 2015 Jul 21 doi: 10.1158/1078-0432.CCR-14-0914. PMID: 26199389
Hummel S, Van Aken H, Zarbock A
Curr Opin Hematol 2014 Jan;21(1):29-36. doi: 10.1097/MOH.0000000000000002. PMID: 24275689
Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli F, Notarangelo LD, Bertrand Y, Bachelerie F, Donadieu J
J Pediatr 2012 Oct;161(4):763-5. Epub 2012 Jun 27 doi: 10.1016/j.jpeds.2012.05.058. PMID: 22748845Free PMC Article

Prognosis

Laberko A, Deordieva E, Krivan G, Goda V, Bhar S, Kawahara Y, Rao K, Worth A, McDermott DH, Balashov D, Maschan A, Shcherbina A
J Clin Immunol 2022 Jan;42(1):171-182. Epub 2021 Oct 26 doi: 10.1007/s10875-021-01155-8. PMID: 34697698Free PMC Article
McDermott DH, Pastrana DV, Calvo KR, Pittaluga S, Velez D, Cho E, Liu Q, Trout HH 3rd, Neves JF, Gardner PJ, Bianchi DA, Blair EA, Landon EM, Silva SL, Buck CB, Murphy PM
N Engl J Med 2019 Jan 10;380(2):163-170. doi: 10.1056/NEJMoa1808575. PMID: 30625055Free PMC Article
Roccaro AM, Sacco A, Jimenez C, Maiso P, Moschetta M, Mishima Y, Aljawai Y, Sahin I, Kuhne M, Cardarelli P, Cohen L, San Miguel JF, Garcia-Sanz R, Ghobrial IM
Blood 2014 Jun 26;123(26):4120-31. Epub 2014 Apr 7 doi: 10.1182/blood-2014-03-564583. PMID: 24711662
Imashuku S, Miyagawa A, Chiyonobu T, Ishida H, Yoshihara T, Teramura T, Kuriyama K, Imamura T, Hibi S, Morimoto A, Todo S
Ann Hematol 2002 Aug;81(8):470-3. Epub 2002 Jul 20 doi: 10.1007/s00277-002-0489-9. PMID: 12224006

Clinical prediction guides

Fukuta T, Muramatsu H, Yamashita D, Sajiki D, Maemura R, Tsumura Y, Yamamori A, Imaya M, Wakamatsu M, Nishikawa E, Narita K, Kataoka S, Taniguchi R, Narita A, Nishio N, Takahashi Y
Int J Hematol 2023 Sep;118(3):411-417. Epub 2023 Apr 19 doi: 10.1007/s12185-023-03590-2. PMID: 37074509
Geier CB, Ellison M, Cruz R, Pawar S, Leiss-Piller A, Zmajkovicova K, McNulty SM, Yilmaz M, Evans MO 2nd, Gordon S, Ujhazi B, Wiest I, Abolhassani H, Aghamohammadi A, Barmettler S, Bhar S, Bondarenko A, Bolyard AA, Buchbinder D, Cada M, Cavieres M, Connelly JA, Dale DC, Deordieva E, Dorsey MJ, Drysdale SB, Ehl S, Elfeky R, Fioredda F, Firkin F, Förster-Waldl E, Geng B, Goda V, Gonzalez-Granado L, Grunebaum E, Grzesk E, Henrickson SE, Hilfanova A, Hiwatari M, Imai C, Ip W, Jyonouchi S, Kanegane H, Kawahara Y, Khojah AM, Kim VH, Kojić M, Kołtan S, Krivan G, Langguth D, Lau YL, Leung D, Miano M, Mersyanova I, Mousallem T, Muskat M, Naoum FA, Noronha SA, Ouederni M, Ozono S, Richmond GW, Sakovich I, Salzer U, Schuetz C, Seeborg FO, Sharapova SO, Sockel K, Volokha A, von Bonin M, Warnatz K, Wegehaupt O, Weinberg GA, Wong KJ, Worth A, Yu H, Zharankova Y, Zhao X, Devlin L, Badarau A, Csomos K, Keszei M, Pereira J, Taveras AG, Beaussant-Cohen SL, Ong MS, Shcherbina A, Walter JE
J Clin Immunol 2022 Nov;42(8):1748-1765. Epub 2022 Aug 10 doi: 10.1007/s10875-022-01312-7. PMID: 35947323Free PMC Article
Pillay J, Tregay N, Juzenaite G, Carlin LM, Pirillo C, Gaboriau DCA, Farahi N, Summers C, Lo Celso C, Chilvers ER, Rankin S, De Filippo K
J Leukoc Biol 2020 Jun;107(6):1175-1185. Epub 2020 May 6 doi: 10.1002/JLB.1MA0420-571RR. PMID: 32374077
Treon SP, Cao Y, Xu L, Yang G, Liu X, Hunter ZR
Blood 2014 May 1;123(18):2791-6. Epub 2014 Feb 19 doi: 10.1182/blood-2014-01-550905. PMID: 24553177
Badolato R, Dotta L, Tassone L, Amendola G, Porta F, Locatelli F, Notarangelo LD, Bertrand Y, Bachelerie F, Donadieu J
J Pediatr 2012 Oct;161(4):763-5. Epub 2012 Jun 27 doi: 10.1016/j.jpeds.2012.05.058. PMID: 22748845Free PMC Article

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