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Table 4 The phenotype and treatment of the 9 patients with PKCδ deficiency described to date, including the 3 siblings in this report

From: Successful use of ofatumumab in two cases of early-onset juvenile SLE with thrombocytopenia caused by a mutation in protein kinase C δ

Mutation Number of cases Phenotype Treatment Outcomes Reference number
c.1840C > T, p.R614W (homozygous) 1 SLE –like with lymphoproliferation Corticosteroids and rapamycin Reduction in size of lymph nodes and resolution of hepatosplenomegaly, transaminitis and ongoing acute phase response [26]
G510S/G510S 3 SLE-like, lymphoproliferation and recurrent infections Corticosteroids in all;
Various DMARDS in 2
Rituximab in 1
Relapsing course in 2 cases; death age 13 in 1 case (septic shock) [11, 27]
c.1352 + 1G > A 1 SLE-like and recurrent infections Corticosteroids;
Various DMARDs;
immunoglobin replacement
Good response [28]
c.742G > A, p.Gly248Ser 1 SLE-like, CMV infection Oral hydroxychloroquine; antibiotic and IVIG prophylaxis Good response [29]
c.1294G > T; p.Gly432Trp (homozygous) 3 SLE-like (see main text); severe haematological involvement in all 3; acute tubulointerstitial nephritis in 1 high dose corticosteroids in all 3; various DMARDS in 2; rituximab in 3; ofatumumab in 2 Good response to rituximab in all 3, but severe infusion reactions in 2 cases. Good response to ofatumumab in 2 cases [4], and this report
  1. SLE Systemic lupus erythematosus, DMARDs Disease modifying anti-rheumatic drugs, CMV Cytomegalovirus, IVIG Intravenous immunoglobin