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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

Yes

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

Yes

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

Yes

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

Yes

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

Yes

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

No

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