Severe Combined Immunodeficiency Disorder due to a Novel Mutation in Recombination Activation Gene 2: About 2 Cases

Table 1

Immunological workup.

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(1) HIV serology = negative

(2) CBC: Hb: 18.3 g/dl (8.00–17.6 g/dl), PNN: 1976 c/mm³ (1,000–9,500 c/mm³), lymphocytes: 832 c/mm³ (2,000–17,000 c/mm³), and Plts: 383,000 c/mm³ (170,000–500,000 c/mm³)

(3) Immunoglobulin dosage: IgG: 6.20 g/l, IgM: 0.20 g/l, and IgA: 0.17 g/l

(4) Lymphocyte subpopulation: lymphocytes: 520 c/mm³, CD3: 26 c/mm³ (2,500–5,900 c/mm³), CD4: 10 c/mm³ (1,400–4,300 c/mm³), CD8: 16 c/mm³ (500–1,700 c/mm³), CD19: 1 c/mm³ (300–3,000 c/mm³), and CD16-56: 493 c/mm³ (160–950 c/mm³)

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Note: this table shows laboratory results at the time of admission. All normal ranges cited here are adapted to the age [12, 13].