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Table 1 Clinical characteristics of APDS 1 and APDS 2 reported in the literature and manifestations of these conditions in our patients [1, 3, 5, 7, 11]

From: Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys

ManifestationAPDS 1APDS 2
Typical symptomsSymptoms in the patient 1Typical symptomsSymptoms in the patient 2
Infectious complications 
 Recurrent respiratory infections
  Pneumonia++++
  Bronchitis++++
  Sinusitis++++
  Otitis+++
 Viral infections
  HPV++
  CMV+++
  EBV++
  Adenovirus++
 Parasitic and fungal infections+++
 Gastrointestinal infections++
Non-infectious complications 
 Lymphadenopathy++++
 Splenomegaly+++
 Hepatomegaly+++
 Nodular lymphoid hyperplasia in the gastrointestinal tract+++
 Signs of facial dysmorphia++
 Short stature++
 Intellectual disability+
 Microcephalia+
Mutation 
 E1021K++
 N334K+
 E525K+
 C416R+
 NM_181523++
Laboratory abnormalities 
 Lower concentrations of IgG and IgA++++
 Elevated concentration of IgM+++
 Lymphopenia CD19+++++
 Elevated count of T lymphocytes CD8++++
 Inverted CD4/CD8 ratio++++
 Lower count of naïve T lymphocytes CD4+ (CD4+CD45RA+)+++
 Lower count of naïve T lymphocytes CD8+ (CD8+CD45RA+)+
Treatment 
 Immunoglobulin replacement therapy++++
 Immunosuppressive therapy++
 Allo-HSCT+++