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 |