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Table 1 Demographic, clinical and genetic data of the patients

From: Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry

UPN

First manifestation Age & type

Gender / Age at last visit / Vital status (Life/Death)

Warts yes/no Age at first warts comments

Genital Warts (HPV vaccine +/−)

Infection site: germ (Age)

Cancer or malformation

CXCR4 mutations DNA / protein

5546

5.1 years Profuse warts

F/ 32 years / L

Yes 5.1 years surgery at 10 years

No (−)

Urinary tract infection : E. coli (23 years)

No

c.969_970insG G323fs343X

5449

6 months Adenitis

M/ 7 years / L

Yes 5 years

No (−)

Adenophlegmon: methicilline-sensitive S. aureus (6 months)

No

 
     

Paroditis: non identified germ (7 years)

  

Foetus

NR

F/ Medical termination of pregnancy at 32 gestational weeks/D

NR

NR

NR

Double aortic arch

 

5780

1.6 years Salmonellosis

M/ 6.7 years / L

No

No (+)

Digestive infection: Salmonella typhimurium (12 months)

No

c.1000C>T R334X

     

Osteoarthritis: S. aureus (15 months)

  

5592

3 months Mastoiditis

M / 24 years / L

Yes 2 years Pharmacoresistance (imiquinod) and reappearance after surgery

No (−)

Repeated pneumonia (since age 7 years) chronic bronchiectasis and lobectomy Repeated otitis media leading to cholesteatoma

No

Wild type

     

Stomatitis HSV1 (12 years)

  
     

Sinusitis ,Mastoiditis : Aspergillus glocus (16 years)

  
     

Axillary abcess P. mirabilis (20 years)

  
     

Sepsis H. influenzae , S. pneumoniae

  

7012

5-10 years ENT

M/ 75.6 years / L

No

No (−)

ENT (childhood)

Severe pneumonia (10 years) - chronic bronchiectasis

Angiocholitis (age NR)

Basal cell carcinoma (72 years)

c.1013C>G S338X

5231

At birth Neutropenia

F / 39.5 years / D

Yes Childhood

Genital warts since puberty HPV 6 (−)

Pneumonia (S. aureus S. pneumoniae, H. influenza, P. aeruginosa), since childhood leading to chronic bronchiectasis.

HPV related verrucosis metastatic carcinoma of the vulva

 
     

Chronic sinusitis

  
     

Genital HSV2 (23 years)

  
     

Angiocholitis (27 years)

  
     

Chronic skin granuloma (nontypable mycobacterium) (32 years)

  
     

Sepsis P. aeruginusa, Cytomegalovirus (40 years)

  
     

Sputum Candida albicans , P aeruginosa, E. Coli (40 years)

  
     

Intestinal tract C. jejuni, S. aureus , C. albicans (40 years)

  

5446

5-10 years ENT

M /40.6 years / D

Yes Childhood HPV 2, 5,23

Yes (−)

Stomatitis HSV 1 (24 years)

EBV negative cutaneous T-cell lymphoma (37 years)

 
     

Repeated pneumonia, since infancy complicated by lung abcesses and chronic bronchiectasis : S. aureus, H. influenzae , C. albicans, M. morganii (33 years), S. pneumoniae (34 years), B. catarrhalis (35 years), Proteus mirabilis (36 years)

  
     

Purulent pericarditis Pneumococci (35 years)

  
     

Skin lesions Molluscum contagiosum and Onycomycosis (NR germ)

  
     

Atypical Mycobacteria hepatitis (40.6 years)

  

5447

2 months Neutropenia

M / 8.6 years / L

No

No (+)

No severe infection

Tetralogy of Fallot

 
  1. ATB: Antibiotic prophylaxis; CXCR4: Chemokine (C-X-C-motif) receptor type 4; D: Death; DNA: deoxyribonucleic acid; EBV: Epstein Barr virus; ENT: Ears nose throat infection; HPV: Human Papillomavirus; Ig: Immunoglobulin prophylaxis; L: Life, NR: Non reported; PLTs: Platelets; UPN : Unique patient number; + Present; - Absent.
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172