Table 1.
Clinical and immunological features of the North Indian cohort of patients with XLHIGM
| Patient No. | Age of onset (years) | Age at diagnosis (years) | Delay in diagnosis (years) | Predominant infections | Organisms isolated | IgG (mg/dl) | IgA (mg/dl) | IgM (mg/dl) | Treatment given | Outcome | Other manifestations | Neutropenia | GCSF | Follow up |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Pt.l | 0.67 | 0.67 | 0 | Pneumonia, diarrhea, psoas abscess | C.difficile in stools, Klebsiella pneumoniae in urine culture | < 95 | 10 (15–70) | 63 (40–160) | IVIg (intermittent), cotrimoxazole, antimicrobials | Expired at 2.5 years of age (psoas abscess with sepsis) | None | Yes | Given (only at first month at diagnosis) | 2 years |
| Pt.2 | 0.67 | 0.67 | 0 | Otherwise asymptomatic | None | < 92 | < 17 | 31 (60–210) | Cotrimoxazole prophylaxis | Surviving | None | NA | Not given | 1 year |
| Pt.3 | 1 | 5 | 4 | Pneumonia, diarrhea | Klebsiella pneumoniae | 308 (490–1610) | 65 (40–200) | 314 (50–200) | IVIg, cotrimoxazole, antimicrobials | Well on IVIg | Pulmonary alveolar proteinosis, Recurrent episodes of anemia requiring blood transfusions | No | Not given | 8 years |
| Pt.4 | 0.58 | 1.5 | 1 | Recurrent pneumonia, pulmonary tuberculosis, diarrhea, recurrent oral ulcers | Mycobacterium tuberculosis | < 94 | < 17 | 60 (50–220) | IVIg, cotrimoxazole, antimicrobials | Expired at 3 years of age (bronchopneumonia) | None | Yes (ANC: 1328) | Not given | 1.5 years |
| Pt.5 | 0.5 | 4 | 3.5 | Cervical lymphadenitis, Necrotizing fasciitis of the right eyelid leading to thinning of cornea | None | 475 (490–1610) | < 17 | 676 (50–200) | IVIg 5 g monthly, cotrimoxazole, antimicrobials | Well on IVIg | None | Yes | Not given | 1 year |
| Pt.6 | 0.25 | 3 | 2.75 | Recurrent episodes of fever with cough, oral candidiasis | None | 500 (490–1610) | 60 (40–200) | 76 (50–200) | IVIg, GCSF, antimicrobials | Well on IVIg | None | Yes | Given | 1 year |
| Pt.7 | 1 | 5 | 4 | Pneumonia | None | < 75 | < 10 | 130 | IVIg, Cotrimoxazole prophylaxis | Lost to follow-up | Arthritis (left knee, right elbow, right ankle), anemia requiring recurrent blood transfusion | Yes | - | Lost to follow up |
| Pt.8 | 1.5 | 3 | 1.5 | Diarrhea, Otitis media, Pneumonia, Empyema | None | < 202 | < 17 | 197 (50–200) | Cotrimoxazole (therapeutic for 14 days followed by prophylaxis), IVIg, antimicrobials | Lost to follow-up | Right Femoral Vein thrombosis | No | Not given | Lost to follow-up |
| Pt.9 | 0.25 | 9 | 8.75 | Recurrent pneumonia, diarrhea, Otitis media, meningitis, Transfusion acquired hepatitis B | None | 16 (72–265) | 34 (61–227) | 410 (51–332) | IVIg, Cotrimoxazole, antimicrobials | Expired at 11 years (cause: Not known) | Arthritis | No | NA | 2 years |
| Pt.10 | 0.25 | 5 | 4.5 | Recurrent diarrhea, Pneumonia, Sclerosing cholangitis | None | < 95 | 6 | 125 | Not given | Expired at the time of diagnosis (5 years) (severe pneumonia) | - | No | Not given | 0.1 years |
IVIg – Intravenous Immunoglobulin, G-CSF – Granulocyte Colony Stimulating Factor.