Table 3.
Summary of literature related to TRAF3IP2 deficiency, including mouse models and previously reported cases of humans harboring deleterious mutations. KO: knockout, Hypergam: hypergammaglobulinemia, LAD/SM: lymphadenopathy and splenomegaly, CMC: chronic mucocutaneous candidiasis, PNA: pneumonia.
| Cited | Organism Studied | TRAF3IP2 Protein Alteration | Variant effect on TRAF3IP2 protein | Increased B cells | Autoimmunity | Hypergam | Hyper IgE | LAD/SM | Atopic dermatitis | CMC | Bronchiecta sis / PNA | Scalp lesions +/− alopecia | Folliculitis | Psoriasis (or psoriasis-like skin disease) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Qian, 2004 | mouse | full KO and B-cell specific KO | no protein (not shown) | + | + | + | + | |||||||
| Matsushima, 2010 | mouse | C-term truncation | no protein | + | + | + | ||||||||
| Claudio, 2009 | mouse | full KO | no protein (not shown) | |||||||||||
| Huffmeier, 2010 | human | D10N missense in TRAF6 binding | full-length protein (not shown) | + | ||||||||||
| Boisson, 2013 | human | T583I missense in SEFIR domain | full-length protein | + | + | |||||||||
| Bhattad, 2019 | human | R283X | truncated protein (not shown) | + (from infections) | + | + | ||||||||
| Nemer, 2020 | human | T438N missense in SEFIR domain | full-length protein | + | + | |||||||||
| Pt. 1 (this report) | human | R187X | no protein | + | + | + | ||||||||
| Pt. 2 (this report) | human | R187X | no protein (not shown) | + | + |