Table 2.
Clinical manifestations in patients with otulipenia, haploinsufficiency of A20 (HA20), and linear ubiquitin chain assembly complex deficiencies.
| Clinical manifestations | Otulipenia (17) |
HA20 (16, 35–37) |
HOIL-1 deficiency (14) |
HOIP deficiency (15) |
||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Yes or no | Patients (n = 3) | Yes or no | Patients (16) (n = 11) | Patients (37) (n = 6) | Patients (36) (n = 3) | Patients (35) (n = 1) | Yes or no | Patients (n = 3) | Yes or no (n = 1) | |
| Early age onset | Yes (1–4.5 months) | 3/3 | Yes (7 months–16 years) | 11/11 | 6/6 | 3/3 | 1/1 | Yes | 3/3 | Yes |
| Fevers | Yes (fever lasting 2–3 weeks) | 3/3 | Yes | 2/11 | 3/6 | 1/3 | 1/1 | Yes | 3/3 | Yes |
| Skin rash | Yes (erythematous with skin nodules, pustular rash) | 3/3 | Yes (erythematous papules, folliculitis, skin abscesses) | 4/11 | 6/6 | 0/3 | 1/1 | Yes (eczema; erythroderma, desquamative dermatitis) | 1/3; 1/3 | No |
| CNS | No | 1/3 | Yes (CNS vasculitis, chorea, migraine) | 2/11 | / | / | 0/1 | No | 0/3 | No |
| GI | Yes (abdominal pain, diarrhea) | 1/3 | Yes (colitis) | 4/11 | 1/6 | 1/3 | 0/1 | Yes (abdominal pain, diarrhea, vomiting, blood and mucus in the stools) | 3/3 | Yes (recurrent episodes of fatty diarrhea, intestinal lymphangiectasia) |
| Arthritis | Yes (arthralgias, myalgias) | 3/3 | Yes (arthralgia, polyarthritis) | 6/11 | / | 2/3 | 0/1 | No | 0/3 | Yes |
| Arthralgias | ||||||||||
| Myalgias | ||||||||||
| Elevated CRP, ESR | Yes | 3/3 | Yes | 6/6 | 1/1 | / | 1/1 | Yes | 3/3 | Yes |
| Immunodeficiency | No obvious primary immunodeficiency | 2/3 | Yes (IgG2 and 4 subclass deficiency, low anti-polysaccharide antibodies lymphopenia) | 2/11 | / | / | 1/1 | Yes (recurrent bacterial infections, memory B-cell deficiency, and hyper-IgA syndrome) | 3/3 | Yes (recurrent viral and bacterial infections, lymphopenia, antibody deficiency, hypogammaglobulinemia) |
| Oral ulcers | No | 0/3 | Yes | 11/11 | 6/6 | 2/3 | 0/1 | Yes | 1/3 | Yes |
| Genital ulcers | No | 0/3 | Yes | 10/11 | 6/6 | 1/3 | 0/1 | No | 0/3 | No |
| Ophtho | No | 0/3 | Yes (uveitis, retinal vasculitis) | 3/11 | / | 1/3 | / | No | 0/3 | No |
| Pathergy | No | 0/3 | Yes | 3/11 | / | / | / | No | 0/3 | No |
| Autoantibodies | No | 0/3 | Yes (RNP, ANA, lupus anticoagulant) | 5/11 | / | / | 1/1 | No | 0/3 | No |
| Panniculitis | Yes | 3/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | No | 0/3 | No |
| Failure to thrive | Yes | 3/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | Yes | 3/3 | Yes |
| Lipodystrophy | Yes | 3/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | No | 0/3 | No |
| Lymphadenopathy | Yes | 2/3 | Yes | 0/11 | 0/6 | 0/3 | 1/1 | Yes | 2/3 | Yes |
| Systemic lymphangiectasia | No | 0/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | No | 0/3 | Yes |
| Weakness in lower extremities | No | 0/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | Yes | 2/3 | Yes |
| Cardiomyopathy | No | 0/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | Yes | 3/3 | Yes |
| Respiratory distress | No | 0/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | Yes | 1/3 | Yes |
| Amylopectinosis | No | 0/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | Yes | 3/3 | Yes |
| Systemic edema | No | 0/3 | No | 0/11 | 0/6 | 0/3 | 0/1 | No | 0/3 | Yes |
| Effective treatment | anti-TNF, anti-IL-1 | 2/3; 1/3 | anti-IL-1, anti-TNF; colchicine | 1/11; 4/11; 2/11 | 0/6; 0/6; 1/6 | 0/6; 0/6; 0/6 | 0/1; 0/1; 0/1 | anti-TNF, steroids; BMT | 2/3; 1/3 | Naproxen, antibiotic prophylaxis, IVIG |