Table 3.

“Red flags” suggestive of human CARD11 deficiency (LOF CARD11 mutations).

Clinical features	Proportion	Penetrance (%)
Infections (bacterial/viral)
P. jirovecii pneumonia	3/3	100
Bacterial sepsis (Enterococcus etc.)	1/3	33
Viral pneumonia (Rhinovirus etc.)	1/3	33
LABORATORY TESTS
Cell populations
Normal total lymphocyte numbers	3/3	100
↓ Treg	3/3	100
↑ Naïve ↓ Memory B cells	3/3	100
↑ Naïve ↓ Effector T cells	2/2	100
Response
↓ T cell proliferation (PHA, α-CD3/CD28)	3/3	100
↓ NF-κB phosphorylation/IκBα degradation	3/3	100
↓ IL-2 secretion	3/3	100
Ig
Panhypogammaglobulinemia	3/3	100

Tabulation of findings that may be diagnostic clues for CARD11 deficiency. Included are the proportion of patients where the data is available as well as the percentage of patients with the specific phenotype. ↑, increased levels relative to normal range; ↓, decreased levels relative to normal range.