Table 4.

“Red flags” suggestive of CADINS disease (DN LOF CARD11 mutations).

Clinical features	Proportion	Penetrance (%)
Atopic disease	39/44	89
Atopic dermatitis	32/44	73
Asthma	24/44	55
Food allergies	14/44	32
Eosinophilic esophagitis	3/44	7
Cutaneous viral infections	30/44	68
Respiratory infections	30/44	68
Autoimmunity	9/44	20
Neutropenia	6/44	14
Oral ulcers	6/44	14
Lymphoma	3/44	7
LABORATORY TESTS
Cell Populations
↑ Total CD4+ T cells	4/40	10
↓ Memory CD4+ T cells	9/26	35
Normal total CD8+ T cells	41/43	95
↓ Memory CD8+ T cells	4/15	27
↓ Total B cells	8/43	19
↓ Class-switched/memory B cells	10/35	29
↓ NK cells	8/43	19
↓ Tregs	2/29	7
↑ Eosinophils	26/40	65
In vitro responses
↓ T cell proliferation	19/31	61
↓ NF-κB phosphorylation/IκBα degradation	11/12	92
Specific antibody response defect	20/41	49
Total antibody response defect	12/42	29
Ig
Panhypogammaglobulinemia	5/44	11
↑ IgE	31/42	74

Summary of major clinical and immunological phenotypes associated with human germline DN LOF CARD11 mutations causing CARD11-associated Atopy with Dominant Interference of NF-κB Signaling (CADINS) disease. Proportion of patients and penetrance is calculated based on number of patients with available data. Clinical “red flags” for potential diagnosis of CADINS disease are marked in blue. ↑, increased levels relative to normal range; ↓, decreased levels relative to normal range.