Rare genetic inflammatory skin disorders

Gene: CARD11

Green List (high evidence)

Comment on mode of inheritance: There are at least 3 unrelated individuals reported in literature with biallelic CARD11 variants and inflammatory skin presentation (severe atopic dermatitis, lichenification of the palms and soles). In 1 case, dermatitis was the main phenotype, with no severe recurrent infections noted. Hence, the MOI should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal on Rare genetic inflammatory skin disorders.

Created: 22 May 2026, 11:15 a.m. | Last Modified: 22 May 2026, 11:15 a.m.

Panel Version: 4.19

https://doi.org/10.4049/jimmunol.212.supp.0307.5377 Spratt et al., 2024
Report of a patient with a history of recurrent upper respiratory infections, recalcitrant atopic dermatitis and common variable immunodeficiency, carrying novel compound heterozygous CARD11 variants (G689E, R920L).

https://doi.org/10.1186/s43042-024-00489-3 Meshaal et al., 2024
Report of 2 patients with CID including repeated pneumoniae with ICU admissions, chronic diarrhea, and itchy atopic skin disease. Patient 1 was homozygous for CARD11 c.2839G > A, p.Glu947Lys, and patient was homozygous for CARD11c.1073C > G, p.Pro568Arg. P1 skin features: generalized itchy exfoliative erythematous rash, eczema with marked lichenification of the palms and soles (similar in brother and uncle). P2 skin features: recurrent skin boils and superficial abscesses; atopic skin disease with significant lichenification of the palms and soles.

PMID: 36729250 Nguyen et al., 2023
Report of a 4 month old Hispanic boy with autosomal recessive inborn error of immunity featuring dermatitis and lymphadenopathy without severe, recurrent, or opportunistic infections. He presented with fevers, diffuse lymphadenopathy, and extensive exfoliative erythroderma not responsive to topical steroids. Trio exome detected a homozygous CARD11 c.3374G > C;p.Trp1125Ser variant in the proband (het in healthy parents).

PMID: 26289640 Fuchs et al., 2015
2 sibs with Omenn syndrome - severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. Both homozygous for CARD11 (p.Cys150*).

Created: 22 May 2026, 11:10 a.m. | Last Modified: 22 May 2026, 11:10 a.m.

Panel Version: 4.18

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Immunodeficiency 11B with atopic dermatitis, OMIM:617638; Immunodeficiency 11A, OMIM:615206

Publications

• 26289640
• 36729250
• https://doi.org/10.1186/s43042-024-00489-3
• https://doi.org/10.4049/jimmunol.212.supp.0307.5377

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Immunodeficiency 11B with atopic dermatitis

Publications

• 28628108

Green List (high evidence)

Following discussion with the Genomics England clinical team it was agreed that Green genes associated severe multi-system atopic disease with high Ig should be included on this panel. Therefore added to panel as a Green gene.

Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.

Panel Version: 0.17