Table 1. Summary of major clinical and laboratory findings.
| Patient 1, male | Patient 2, male | Patient 3, female | |
|---|---|---|---|
| Age at presentation | 5 mo | 6 mo | 10 mo |
| Infection | Recurrent pneumonia, EBV/CMV viremia, CMV pneumonia | Congenital toxoplasmosis, recurrent pneumonia, varicella infection, CMV viremia, Candida pneumonia adenovirus + CMV PCR positive in BAL | Recurrent pneumonia, urinary infections, gastroenteritis, CMV viremia |
| Autoimmunity | Coombs+ AIHA, ITP, autoimmune neutropenia | Coombs+ AIHA, ITP | Anti-ADAMTS13+ microangiopathic hemolytic anemia |
| Lymphoproliferation | Lymphadenopathy, splenomegaly | Lymphadenopathy, splenomegaly | Lymphadenopathy, splenomegaly |
| Lung disease | Chronic lung disease, bronchiectasis | Chronic lung disease, bronchiectasis | No |
| Others | Red-brown rash on face and legs | Diplegic cerebral palsy due to congenital toxoplasmosis, red-brown rash on forearm | No |
| Treatment | Steroids, IgG-RT, splenectomy | Steroids, IgG-RT | Steroids, plasmapheresis |
| Outcome | Died at 9 yr due to disseminated CMV infection | Alive, 8 yr old, 13 mo after HSCT | Died at 2 yr due to TTP |
| Immunoglobulins | Progressive hypogammaglobulinemia | Progressive hypogammaglobulinemia | Hypergammaglobulinemia |
| <4 yr: | <3.5 yr: | ||
| normal | normal to rather increased | ||
| 4 yr: | 3.5 yr: | 2 yr: | |
| IgG 1.6 g/liter (5.4–13.4 g/liter) | IgG 1.3 g/liter (5.4–13.4 g/liter) | IgG 20.45 g/liter (4.7–12.3 g/liter) | |
| IgA <0.16 g/liter (0.3–1.9 g/liter) | IgA 0.69 g/liter (0.3–1.9 g/liter) | IgA 1.02 g/liter (0.2–1.4 g/liter) | |
| IgM 0.12 g/liter (0.4–1.7 g/liter) | IgM 0.84 g/liter (0.4–1.7 g/liter) | IgM 0.89 g/liter (0.4–1.5 g/liter) | |
| IgE 2 IU/ml (<58 IU/ml) | IgE 286 IU/ml (<29 IU/ml) | ||
| 8 yr: | |||
| IgG <2 g/liter (6.5–15.3 g/liter) | |||
| IgA <0.26 g/liter (0.5–2.5 g/liter) | |||
| IgM 0.39 g/liter (0.4–1.9 g/liter) | |||
| Specific antibodies | Hepatitis A+, HSV1+, Hepatitis B−, measles−, mumps−, rubella− | ND | rubella+, measles−, EBV+, CMV− |
| Lymphocyte populations | Progressive lymphopenia, high γδ T cells, low CD4 T cells | Progressive lymphopenia, high γδ T cells, low CD4 T cells, low B cells | High γδ T cells |
AIHA, autoimmune hemolytic anemia; BAL, bronchoalveolar lavage; HSCT, hematopoietic stem cell transplantation; IgG-RT, Ig replacement therapy; ITP, idiopathic thrombocytopenic purpura; TTP, thrombotic thrombocytopenic purpura. Values in parentheses depict age-matched reference values.