Conditions associated with FA
| Condition | Key features |
|---|---|
| Dominant-negative mutations in STAT3 (Job’s syndrome) | Elevated IgE levels, recurrent skin and lung infections |
| WAS | X-linked disorder can lead to eczema, low platelet counts, and recurrent infections |
| Omenn syndrome | Severe combined ID (SCID) is characterized by skin rash, failure to thrive, recurrent and severe infections, chronic diarrhea, lymphadenopathy, and hepatosplenomegaly |
| Hyper IgM syndrome | Weakened ability to fight infections and an increased susceptibility to recurrent bacterial, viral, and fungal infections |
| STAT3 gain-of-function (GOF) | Various immune-related issues, including autoimmune diseases and allergies |
| Netherton syndrome | Severe skin abnormalities, including chronic skin inflammation, eczema, and hair shaft abnormalities |
| SIgAD | Significant decrease or absence of IgA antibodies in the bloodstream. May be asymptomatic in some individuals, but it can lead to recurrent respiratory and gastrointestinal infections |
| CVID | Impaired immune function, particularly in antibody production. It results in recurrent and severe bacterial, viral, and fungal infections, along with an increased risk of autoimmune conditions and lymphomas |
| IPEX | X-linked disorder that leads to severe immune system dysregulation. Characterized by autoimmune reactions that affect multiple organs, leading to conditions such as enteropathy, polyendocrinopathy, and skin disorders |
| IL-6ST | Elevated IgE levels, bacterial sinopulmonary infections, cold skin abscesses, severe eczema, FA, pneumatoceles, and skeletal abnormalities |
| ERBIN deficiency | Elevated IgE levels, eosinophilic esophagitis, FA, allergic rhinitis, hyperextensibility, and vascular anomalies |
| Loeys-Dietz syndrome | Connective tissue abnormalities, FA, allergic rhinitis, asthma, eczema, skeletal and vascular anomalies, and developmental disability |
| DOCK8 deficiency | Elevated IgE levels, eczema, recurrent cutaneous viral infections and candidiasis, and FA; increased susceptibility to malignancy and autoimmunity |
