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

c.1840C > T, p.R614W (homozygous)

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

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

SLE-like and recurrent infections

Corticosteroids;

Various DMARDs;

rituximab;

immunoglobin replacement

Good response

[28]

c.742G > A, p.Gly248Ser

SLE-like, CMV infection

Oral hydroxychloroquine; antibiotic and IVIG prophylaxis

Good response

[29]

c.1294G > T; p.Gly432Trp (homozygous)

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