U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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

Therapy

Badolato R, Alsina L, Azar A, Bertrand Y, Bolyard AA, Dale D, Deyà-Martínez À, Dickerson KE, Ezra N, Hasle H, Kang HJ, Kiani-Alikhan S, Kuijpers TW, Kulagin A, Langguth D, Levin C, Neth O, Olbrich P, Peake J, Rodina Y, Rutten CE, Shcherbina A, Tarrant TK, Vossen MG, Wysocki CA, Belschner A, Bridger GJ, Chen K, Dubuc S, Hu Y, Jiang H, Li S, MacLeod R, Stewart M, Taveras AG, Yan T, Donadieu J
Blood 2024 Jul 4;144(1):35-45. doi: 10.1182/blood.2023022658. PMID: 38643510Free PMC Article
Tawfiq RK, Abeykoon JP, Kapoor P
Curr Hematol Malig Rep 2024 Jun;19(3):120-137. Epub 2024 Mar 27 doi: 10.1007/s11899-024-00731-0. PMID: 38536576
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
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
Hummel S, Van Aken H, Zarbock A
Curr Opin Hematol 2014 Jan;21(1):29-36. doi: 10.1097/MOH.0000000000000002. PMID: 24275689

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

Badolato R, Alsina L, Azar A, Bertrand Y, Bolyard AA, Dale D, Deyà-Martínez À, Dickerson KE, Ezra N, Hasle H, Kang HJ, Kiani-Alikhan S, Kuijpers TW, Kulagin A, Langguth D, Levin C, Neth O, Olbrich P, Peake J, Rodina Y, Rutten CE, Shcherbina A, Tarrant TK, Vossen MG, Wysocki CA, Belschner A, Bridger GJ, Chen K, Dubuc S, Hu Y, Jiang H, Li S, MacLeod R, Stewart M, Taveras AG, Yan T, Donadieu J
Blood 2024 Jul 4;144(1):35-45. doi: 10.1182/blood.2023022658. PMID: 38643510Free PMC Article
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
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
Diaz GA, Gulino AV
Curr Allergy Asthma Rep 2005 Sep;5(5):350-5. doi: 10.1007/s11882-005-0005-0. PMID: 16091205

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...