Disorders

Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Synonym(s): ALDD, CANDLE, Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome, JMP Syndrome, Joint Contractures, Muscular Atrophy, Microcytic Anemia, And Panniculitis-Induced Lipodystrophy, Nakajo-Nishimura Syndrome, NKJO

OMIM

Gene	Locus	Protein
PSMB8	6p21.3	Proteasome subunit beta type-8

Laboratory	Test Method	Prenatal	Carrier *
Centogene AG, Rare Disease Company - Rostock, Germany
CHRU Montpellier, Laboratoire des maladies rares et Auto-Inflammatoires - Montpellier, France
University Medical Center Utrecht, Genome Diagnostics Laboratory - Utrecht, Netherlands

^* Carrier column is relevant to autosomal recessive and X-linked inheritance; column will be blank when it is not relevant (e.g. autosomal dominant inheritance, microdeletions/duplications) and/or is not offered by the lab.