HOIL-1 deficiency; immunodeficiency, autoinflammation, and amylopectinosis of cardiac and/or skeletal muscle

Acronym:
HOIL-1 deficiency

SAID group:
LUBAC deficiencies (HOIL-1 loss of function), Linear ubiquitin chain assembly complex (LUBAC), ubiqutin, NF-kB pathway

Gene:
RBCK1 (HOIL-1 )

Inheritance:
autosomal 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: