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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.