Expanding the spectrum of recombination-activating gene 1 deficiency: A family with early-onset autoimmunity

Unfortunately, the child died from an Enterobacter species central line infection before the transplantation could be performed. Because of patient A's death, the younger sister (patient B) was immediately started on sulfamethoxazole/trimethoprim (Bactrim) prophylaxis and intravenous immunoglobulin and never had infections or clinical manifestations of autoimmunity. CD3+ (cells/L [%]) 89 (11) 160 (25) 34 (5) 3,584 (68) CD4+ (cells/L [%]) 59 (8) 108 (17) 30 (4) 2,372 (45) CD8+ (cells/L [%]) 7 (1) 10 (2) 4 (0) 1,055 (20) CD16+CD56+ (cells/L [%]) 320 (40) 340 (55) 395 (56) 655 (13) CD19+ (cells/L [%]) 359 (45) 81 (13)[low *] 265 (38) 908 (17) CD3+CD4+CD45RA+ (%) -- -- 13.9 73.1 CD3+CD4+CD45RO+ (%) -- -- 86.1 26.5 CD3+CD8+CD45RA+ (%) -- -- 63.2 43.3 CD3+CD8+CD45RO+ (%) -- -- 36.8 42.7 PHA (cpm [% control]) 21,254 (15.0) 32,916 (25.3) 6,408 (14.5) 108,861 (70.2) ConA (cpm [% control]) 6,097 (6.1) 2,243 (1.9) 10,730 (53.4) 102,455 (100) TREC (copies/L) -- -- Undetectable 658 RNAse P (copies/L) -- -- 11,876 21,819 Table I Hematologic and immunologic characteristics of patient B and her older sister (patient A) BMT, Bone marrow transplantation; ConA, concanavalin A; cpm, counts per minute; s/p, status post; TREC, T-cell receptor excision circles (measured as described from dried blood spots with RNAse P control gene determination).