HOIP immunodeficiency, autoinflammation, some cases with amylopectinosis of cardiac and/or skeletal muscle and/or systemic lymphangiectasia

Acronym:
HOIP

SAID group:
LUBAC deficiencies (HOIP loss of function), Linear ubiquitin chain assembly complex (LUBAC), ubiqutin, NF-kB pathway

Gene:
RNF31

Inheritance:
recessive

Ethnicity:

Frequency:

Timing of symptoms:

Age of onset:

Skin cutaneous:

Neurologic:

Auditory:

Ophthalamic:

Cardiopulmonary:

Abdominal:

Lymphatic:

Joints bones muscles cartilage:

Vasculitis:

Amyloidosis:

Abnormal labs:

Search Keywords: