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Warts, hypogammaglobulinemia, infections, and myelokathexis(WHIMS)

MedGen UID:
96875
Concept ID:
C0472817
Disease or Syndrome
Synonyms: WARTS, HYPOGAMMAGLOBULINEMIA, INFECTIONS, AND MYELOKATHEXIS SYNDROME; WHIMS
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
not inherited
MedGen UID:
832438
Concept ID:
CN227390
Intellectual Product
Source: Orphanet
Describes a disorder that is not inherited.
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
not inherited (Orphanet)
SNOMED CT: WHIM - Warts, hypogammaglobulinemia, infections and myelokathexis (234571003); Warts, hypogammaglobulinemia, infections, and myelokathexis (234571003)
 
Gene (location): CXCR4 (2q22.1)
OMIM®: 193670
Orphanet: ORPHA51636

Definition

WHIM syndrome is an immunodeficiency disease characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus (HPV) infection. Despite the peripheral neutropenia, bone marrow aspirates from affected individuals contain abundant mature myeloid cells, a condition termed myelokathexis. The susceptibility to HPV is disproportionate compared with other immunodeficiency conditions (summary by Hernandez et al., 2003). [from OMIM]

Clinical features

Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Neutropenia
MedGen UID:
163121
Concept ID:
C0853697
Finding
An abnormally low number of neutrophils in the peripheral blood.

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.

Recent clinical studies

Etiology

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

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
Siedlar M, Rudzki Z, Strach M, Trzyna E, Pituch-Noworolska A, Błaut-Szlósarczyk A, Bukowska-Strakova K, Lenart M, Grodzicki T, Zembala M
Arch Immunol Ther Exp (Warsz) 2008 Nov-Dec;56(6):419-25. Epub 2008 Dec 1 doi: 10.1007/s00005-008-0046-x. PMID: 19043667Free PMC Article

Therapy

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

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, 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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