Table 2.
Clinical data of eight Italian APDS-1 patients.
| P1 | P2 | P3 | P4 | P5 | P6 | P7 | P8 | |
|---|---|---|---|---|---|---|---|---|
| Symptom leading to immunological evaluation | Lymphoproliferation | RRTI | EN, Pneumonia | RRTI | HLH | Lymphoproliferation | Lymphoproliferation | RRTI |
| Initial diagnostic hypothesis | Lymphoma | CVID-like | CVID | CVID | HLH | Lymphoma | Lymphoma | CID |
| Sinopulmonary infections | Otitis, Pneumonia, | Pneumonia | Pneumonia | Otitis, Pneumonia | – | Otitis, Pneumonia | Pneumonia | Otitis, Pneumonia |
| Infections other than URTI | Sepsis, episodic Candidiasis, recurrent | Dental abscess Gastroenteritis | – | – | – | – | Otomastoiditis | – |
| Viral infection | VZV, episodic | EBV, episodic | HSV-1, episodic | – | – | CMV, episodic | – | EBV, persistent |
| Lymphadenopathies | Diffuse | Diffuse | Diffuse | – | Diffuse | Diffuse | Diffuse | Cervical |
| Hepato/splenomegaly | Hepatosplenomegaly | Hepatosplenomegaly | Hepatosplenomegaly | – | Hepatosplenomegaly | Hepatosplenomegaly | Hepatosplenomegaly | Splenomegaly |
| Autoimmunity | – | Psoriatic dermatitis | EN, Leucopenia, Thrombocytopenia, Thyroiditis | – | Arthritis, Rash | – | Hemolytic anemia Recurrent parotiditis | – |
| Allergy and asthma | Asthma | – | Asthma | – | – | Asthma | – | Wheezing |
| Gastrointestinal involvement | – | – | IBD | – | – | – | – | – |
| Neurodevelopmental delay | – | – | – | – | – | – | – | – |
| Others | – | – | – | – | – | – | FTT, Delayed puberty | – |
| Malignancy | – | – | – | – | – | – | – | – |
Abbreviations: APDS-1: Activated Phosphoinositide 3-Kinase Delta Syndrome-1, CID: combined immune deficiency, CMV: cytomegalovirus, CVID: common variable immune deficiency, EBV: Epstein–Barr virus, EN: erythema nodosum, FTT: failure to thrive, HLH: hemophagocytic lymphohistiocytosis, HSV-1: herpes simplex virus 1, IBD: inflammatory bowel disease, RRTI: recurrent respiratory tract infection, VZV: varicella zoster virus.