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20 May 2021: Articles

Protein-Activated Kinase 3 (PAK3)-Related Intellectual Disability Associated with Combined Immunodeficiency: A Case Report

Rare coexistence of disease or pathology

Ohood Almutairi A* , Hessah A. Almutairi A , Maysoun Al Rushood A

DOI: 10.12659/AJCR.930966

Am J Case Rep 2021; 22:e930966

Table 2. Selected laboratory test results of the patient.

Immune variantResultsReference range
IgG, g/L3.914.396.174.9–16.1
IgG1, mg/L2590N ANA3060–9450
IgG2, mg/L574NANA605–3450
IgG3, mg/L381NANA99–1221
IgG4, mg/LNANA18–1125
IgA, g/L0.08590.4–2
IgM, g/L0.2660.6150.3020.5–2
Avg total CD3 T cells/μL (%)746 (83.48)766 (86.71)478 (86.67)1400–3700 (60–76)
CD3 CD4+ helper T cells/μL (%)172 (17.87)179 (20.31)148 (27.16)700–2200 (31–47)
CD3 CD8+ T cells/μL (%)561 (58.41)479 (54.42)257 (47.19)490–1300 (18–35)
CD19 B cells/μL (%)84 (10.15)83 (9.34)41 (7.36)390–1400 (13–27)
CD16 CD56+ NK cells/μL (%)50 (6.07)47 (5.30)28 (5.19)130–720 (4–17)
Anti-diphtheria IgG, IU/mL0.1320.03 (Jan 2018); 0.06 (Feb 2018)NA0.01–0.1
Anti-tetanus toxoid IgG, IU/mL0.1430.11 (Jan 2018); 0.140 (Feb 2018)NA0.01–0.1
Anti-HIB IgG, mg/L0.123NA (Jan 2018); 0.027 (Feb 2018)NA0.15–1
Anti-PCP IgG, g/L6.72NA (Jan 2018); 0.936 (Feb 2018)NA10–30
HIB – type b; Ig – immunoglobulin; NK – natural killer; NA – not applicable; PCP – pneumocystis pneumonia.
* A diphtheria/tetanus vaccine booster was given in January 2018.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923