Clinical profile of five APDS patients
| . | P1 . | P2 . | P3 . | P4 . | P5 . |
|---|---|---|---|---|---|
| Sex | Male | Female | Male | Male | Male |
| Age at onset of infection (months) | 3 | 3 | 24 | 30 | 14 |
| Age at diagnosis (months) | 60 | 11 | 84 | 48 | 108 |
| Diagnostic delay | 57 | 8 | 60 | 18 | 94 |
| Age at onset of lymphoproliferation (months) | 3 | - | 60 | 36 | 48 |
| Lymphoproliferation | Cervical, submandibular, and axillary lymphadenopathy, adenotonsillar hypertrophy, splenomegaly | - | Cervical and mediastinal lymphadenopathy, follicular bronchitis, hepatosplenomegaly | Cervical, axillary, mediastinal, and mesenteric lymphadenopathy, adenotonsillar hypertrophy (Fig. 2 a) | Cervical lymphadenopathy, adenotonsillar hypertrophy |
| Mean age of onset of infectionsa (months) | 36 | 9 | 36 | - | 24 |
| Sinopulmonary infections | - | Yes | Yes (Fig. 2 b) | - | Yes |
| Other infections | Viral exanthematous fever | - | Recurrent gastroenteritis | Oral candidiasis | Recurrent gastroenteritis, meningoencephalitis |
| Organisms | EBV, varicella | - | EBV | EBV, Candida tropicalis | - |
| Histopathology | Cervical lymph node biopsy: marked interfollicular paracortical zone expansion by lymphoid cells with small cleaved and intersperse immunoblasts and increase in paracortical high endothelial venules and sclerosis. The expanded areas showed atrophic lymphoid follicles. Large follicles with reactive germinal center with indistinct mantle zones | NA | Bronchial lymph node biopsy: lymphoid aggregates in subepithelial stroma, lymphocytic exocytosis in mucosal lining. Stroma showed plasma cells entrapping mucosal glands (Fig. 2) | Axillary lymph node biopsy: cortex containing secondary follicles with prominent germinal centers. Paracortex expanded and showed small-to-medium lymphocytes, histiocytes, high endothelial venules, and plasma cells | NA |
| Autoimmunity | | VEO-IBD | - | - | |
| Other | - | Developmental delay, oral aphthosis | - | - | Developmental delay |
| Treatment | SteroidsMycophenolate mofetil (MMF) Sirolimus Antibiotics | Monthly IVIG, antibiotics | Monthly IVIG, steroids, antibiotics | Monthly IVIG, antibiotics, steroids | Antibiotics |
| Outcome | Alive | Alive | Lost to follow-up | Alive | Alive |
| . | P1 . | P2 . | P3 . | P4 . | P5 . |
|---|---|---|---|---|---|
| Sex | Male | Female | Male | Male | Male |
| Age at onset of infection (months) | 3 | 3 | 24 | 30 | 14 |
| Age at diagnosis (months) | 60 | 11 | 84 | 48 | 108 |
| Diagnostic delay | 57 | 8 | 60 | 18 | 94 |
| Age at onset of lymphoproliferation (months) | 3 | - | 60 | 36 | 48 |
| Lymphoproliferation | Cervical, submandibular, and axillary lymphadenopathy, adenotonsillar hypertrophy, splenomegaly | - | Cervical and mediastinal lymphadenopathy, follicular bronchitis, hepatosplenomegaly | Cervical, axillary, mediastinal, and mesenteric lymphadenopathy, adenotonsillar hypertrophy (Fig. 2 a) | Cervical lymphadenopathy, adenotonsillar hypertrophy |
| Mean age of onset of infectionsa (months) | 36 | 9 | 36 | - | 24 |
| Sinopulmonary infections | - | Yes | Yes (Fig. 2 b) | - | Yes |
| Other infections | Viral exanthematous fever | - | Recurrent gastroenteritis | Oral candidiasis | Recurrent gastroenteritis, meningoencephalitis |
| Organisms | EBV, varicella | - | EBV | EBV, Candida tropicalis | - |
| Histopathology | Cervical lymph node biopsy: marked interfollicular paracortical zone expansion by lymphoid cells with small cleaved and intersperse immunoblasts and increase in paracortical high endothelial venules and sclerosis. The expanded areas showed atrophic lymphoid follicles. Large follicles with reactive germinal center with indistinct mantle zones | NA | Bronchial lymph node biopsy: lymphoid aggregates in subepithelial stroma, lymphocytic exocytosis in mucosal lining. Stroma showed plasma cells entrapping mucosal glands (Fig. 2) | Axillary lymph node biopsy: cortex containing secondary follicles with prominent germinal centers. Paracortex expanded and showed small-to-medium lymphocytes, histiocytes, high endothelial venules, and plasma cells | NA |
| Autoimmunity | | VEO-IBD | - | - | |
| Other | - | Developmental delay, oral aphthosis | - | - | Developmental delay |
| Treatment | SteroidsMycophenolate mofetil (MMF) Sirolimus Antibiotics | Monthly IVIG, antibiotics | Monthly IVIG, steroids, antibiotics | Monthly IVIG, antibiotics, steroids | Antibiotics |
| Outcome | Alive | Alive | Lost to follow-up | Alive | Alive |
EBV, Epstein-Barr virus; VEO-IBD, very early-onset inflammatory bowel disease.
Only systemic or persistent infections were included while calculating the mean age of onset of infections. Oral candidiasis was excluded.