| 1a |
F |
7 mo |
Pneumocystis jiroveci pneumonia, failure to thrive, oral candidiasis |
No |
| 1b |
F |
2 dys |
Family history of sister with SCID, no thymic shadow on chest X-ray, lymphopenia |
No |
| 2 |
M |
12 mo |
Pneumocystis jiroveci pneumonia, diarrhea, failure to thrive, otitis media, |
Yes |
| 3 |
M |
15 mo |
Diarrhea, failure to thrive, chronic upper respiratory infection, pneumonia, recurrent otitis media, aphthous ulcers |
No |
| 4a |
M |
13 mo |
Otitis media, pneumonia, oral thrush, Candida diaper dermatitis, diarrhea, hepatosplenomegaly, fever, anorexia, pulmonary aspergillosis, CMV hepatitis and pneumonitis, Clostridium difficile infection |
No |
| 4b |
F |
6 dys |
Family history of brother with SCID |
No |
| 5a |
F |
13 mo |
Diarrhea, failure to thrive, autoimmune hemolytic anemia, pneumococcal sepsis, meningococcal meningitis, parainfluenza upper respiratory tract infection |
No |
| 5b |
F |
12 mo |
Diarrhea, autoimmune hemolytic anemia, immune thrombocytopenic purpura |
No |
| 6 |
F |
8 mo |
Jejunal atresia s/p resection, failure to thrive, diarrhea, oral and perineal candidiasis, seizures secondary hypocalcemia |
No |
