Clinical courses strongly favor a diagnosis of PID (Table 1).
Patient 1 is a 2-yrs-old boy who suffered from perianal abscess at 26
days and repeated pneumonia, stomatitis (SupFig. 1A), perilabial herpes
(SupFig. 1B) and thrush since the age of 3 months. In addition, he also
developed suppurative meningitis with unknown pathogen at 9 months old,
salmonella enteritidis and hand-foot-and-mouth disease at 1 year old. He
had a history of eczema and was allergic to pollen. He had received the
following vaccinations:Bacille Calmette-Guérin (BCG),Hepatitis B,
Polio, Diphtheria-pertussis-tetanus (DPT). BCG vaccination site was
inflamed and purulent, and scab was formed after 9 months (SupFig. 1C).
Laboratory findings included mild elevated IgE level (330IU/mL,
516.3IU/mL) and positive viremia of EBV, CMV and HSV-1.
Patient 2 is a 3-yrs-old boy who suffered from recurrent respiratory
tract infections and diarrhea since the age of 6 months. Pathogens found
during multiple hospitalizations included Salmonella ,Mycoplasma pneumonia , and Mycobacterium Bovis BCG. No
signs of viral or fungal infections were noticed. No high serum IgE
concentration, atopy, staphylococcal illness, or lymphopenia were found.
Additionally, he also had language delay and was diagnosed of autism at
the age of 3. Detailed clinical manifestations of this patient have been
published elsewhere recently [8].
Patient 3 is a 10-yrs-old girl who suffered from recurrent respiratory
infection with unknown pathogens since she was 2 years old. She was
vaccinated with hepatitis B, BCG, Polio, DPT and measles vaccines and
showed no abnormal responses. She had a history of refractory eczema.
Laboratory findings included low levels of immunoglobulin:IgG 1.55g/L,
IgA 0.0667g/L, IgM 0.172 g/L, IgE 0.6 IU/mL, increased eosinophils and
negative evidence of tubercle bacilli .
Patient 4 is a 5-yrs-old boy who suffered from recurrent suppurative
otitis media and severe pneumonia. He was vaccinated with BCG and
hepatitis B vaccine and there was
pus at the BCG inoculation site.
Pathogens found during multiple hospitalizations includedStaphylococcus haemolyticus , Staphylococcus epidermidis ,Mycoplasma pneumoniae and HSV-II. He had a history of eczema and
was highly allergic. Laboratory findings included high level of IgE
(756.83~1392 IU/mL) and increased eosinophils.
Patient 5 was a 5-yrs-old boy who suffered from recurrent pneumonia with
unknown pathogens and refractory eczema. BCG was injected immediately
after birth and he also developed BCG-itis (SupFig. 1D). Laboratory
findings included high level of IgE (1325~2030 IU/mL),
increased eosinophils and negative evidence of TB infection. The patient
also displayed secondary hypothyroidism: T3 1.55nmol/L, FT 33.71pmol/L,
FT4 11.53pmol/L, TPOAb 177.1U/mL.
All patients were born to non-consanguineous and healthy parents. They
were all clinically diagnosed with PID.