Table 3.

Genes of Interest in the Differential Diagnosis of LPIN2-Related Majeed Syndrome

GeneDisorderMOIFeatures of This Disorder
Overlapping w/LPIN2-related Majeed syndromeDistinguishing from LPIN2-related Majeed syndrome
IL1RN Interleukin-1 receptor antagonist deficiency (OMIM 612852)ARMultifocal sterile osteomyelitis, ↑ ESR, ↑ CRPPredominant skin pustulosis from early infancy
NLRP3 Chronic infantile neurologic cutaneous & articular syndrome (OMIM 607115)ADRecurrent fever, bone pain, skin rashCNS involvement, chronic meningitis
PSTPIP1 Pyogenic sterile arthritis, pyoderma gangrenosum, & acne (OMIM 604416)ADSterile arthritis, ↑ ESR, ↑ CRPAcne, pyoderma gangrenosum
TNFRSF1A TNF receptor-associated periodic fever syndrome ADRecurrent fever, ↑ ESR, ↑ CRPSystemic amyloidosis, arthralgia, periorbital edema

AD = autosomal dominant; AR = autosomal recessive; CNS = central nervous system; CRP = C-reactive protein; ESR = erythrocyte sedimentation rate; MOI = mode of inheritance

From: LPIN2-Related Majeed Syndrome

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