Skip to main content

Table 1 Clinical, immunological and genetic data of six patients with WHIM syndrome*

From: Cerebellar involvement in warts Hypogammaglobulinemia immunodeficiency myelokathexis patients: neuroimaging and clinical findings

Pt Age Sex Age at onset (yrs) Mutation (protein) Warts Infections Other Panleukopenia Hypogamma globuliemia Myelokathexis Current Therapies
P1 9 F 2.5 R334X Yes (hand) enteritis, URTI, pneumonia, lymphadenitis Vitiligo WBC 740 cells/μl
ANC 80 cells/μl
AMC 50 cells/ μl
ALC 580 cells/μl
IgA 12 mg/dl
IgG 529 mg/dl
IgM 28 mg/dl
No Antibiotic prophylaxis, Respiratory FKT (winter time)
P2 12 F 0.5 R334X No enteritis,periodontal disease, URTI,sinusitis, recurrent pneumonia Pulmonary atelectasia WBC 750 cells/μl
ANC 130 cells/μl
AMC 70 cells/μl
ALC 530 cells/μl
IgA 71 mg/dl
IgG 621 mg/dl (on IVIG)
IgM 100 mg/dl
Yes IVIG, Respiratory FKT
P3 18 F 0.3 R334X Yes (abdomen) URTI, recurrent pneumonia, enteritis, meningitis Bronchiectasis, epilepsy WBC 2390 cells/μl
ANC 1790 cells/μl (on G-CSF)
AMC 130 cells/μl
ALC 430 cells/μl
IgA 22 mg/dl
IgG 924 mg/dl (on scIG)
IgM 89 mg/dl
Yes scIG, G-CSF, antibiotic prophylaxis, Respiratory FKT, valproate
P4 21 F 1.9 R334X Yes (hand, feet) URTI, otitis, recurrent pneumonia, cellulitis Tetralogy of Fallot, bronchiectasis WBC 590 cells/μl
ANC 140 cells/μl
AMC 70 cells/μl
ALC 370 cells/μl
IgA < 7 mg/dl
IgG 1110 mg/dl (on IVIG)
IgM 99 mg/dl
Yes IVIG, FKT, antibioitc prophylaxis
P5 32 F 0.3 G336X Yes (disseminated) URTI, recurrent pneumonia, otitis None WBC 750 cells/μl
ANC 390 cells/μl
AMC 80 cells/μl
ALC 270 cells/μl
IgA 40 mg/dl
IgG 250 mg/dl
IgM 21 mg/dl
Yes Antibiotic prophylaxis
P6 51 F 2 G336X Yes (hand, foot) pneumonia, parotitis Melanoma WBC 940 cells/μl
ANC 150 cells/μl
AMC 34 cells/μl
ALC 697 cells/μl
IgA 99 mg/dl
IgG 810 mg/dl
IgM 26 mg/dl
Yes None
  1. F Female, URTI Upper Respiratory Tract Infections, WBC white blood cells, ANC absolute neutrophil count, AMC absolute monocyte count, ALC Absolute lymphocyte count, IVIG Intravenous Immunologbulins, scIG subcutaneous immunoglobulins, FKT Fisiokinesitherapy. All the lab values were recorded at the time of recruitment. Patients P1 and P2 were not previously reported, while patients P3, P4, P5 and P6 were reported in reference [3] as P6, P1, P2 and P3, respectively