Table 3.
Laboratory data of patients with relevant genetic findings.
| ID | Sex | Age at study (y) | Gene | Hypogammaglobulinemia | Neutropenia | Lymphopenia | Thrombocytopenia | Immunophenotype | Functional tests |
|---|---|---|---|---|---|---|---|---|---|
| PATIENTS WITH MUTATIONS IN PID GENES (2017 IUIS CLASSIFICATION) | |||||||||
| P1 | M | 15 | PIK3R1 | – | – | – | – | Inverse CD4/CD8. No switched memory B cells | Low proliferation with anti-CD3, altered in vivo response to Haemophilus influenzae |
| P2 | F | 57 | TNFRSF13B | √ | √ | √ | √ | Low CD4 naïve T cells, low Tregs, low pre-switched and switched B cells | n.a. |
| P3 | F | 8 | TNFRSF13B | √ | √ | √ | √ | Low CD4 naïve T cells, low pre-switched and switched B cells | Normal proliferation, cytotoxicity and degranulation |
| P4 | M | 18 | IKBKG | – | – | – | – | Increased DN gamma delta T cells (22%) | Normal respiratory burst test and cytotoxicity/degranulation assays |
| P5 | F | 10 | STAT3 | – | – | – | – | Low Tregs, low Th17 | Very low proliferation with anti-CD3 |
| P6 | M | 2 | XIAP | – | – | – | – | n.a. | n.a. |
| P7 | M | 1 | G6PD | – | – | – | – | Inverse CD4/CD8 ratio. Increased effector HLA-DR+ CD8+ T cells, low switched B cells | Very low proliferation with anti-CD3 and ConA, very low IFNγ and IL12 production |
| P8 | M | 30 | STAT1 | – | – | – | – | Myeloid DC >>> plasmacytoid DC | Negative in vivo response to Candidin. |
| P9 | F | 4 | STAT1 | – | – | – | – | Low CD4 naïve T cells, low Th17, low pre-switched B cells | Low proliferation with PHA |
| P10 | M | 6 | STAT1 | – | – | – | – | 3.4% DN TCR αβ T cells, increased Th1, low Th17, low Tregs | Low IL12 and IFNγ production |
| P11 | F | 12 | PLCG2 | – | – | – | – | T+ B- NK+ | Normal proliferation, normal respiratory burst test |
| P12 | M | 15 | ADA | √ | – | – | – | T+ B- NK- | Normal respiratory burst test |
| PATIENTS WITH MUTATIONS IN GENES NOT INCLUDED IN THE PID CLASSIFICATION | |||||||||
| P13 | M | 5 | SKIV2L | √ | – | – | – | Normal | Low proliferation with PHA (normal to anti-CD3 and ConA), normal respiratory burst test |
| P14 | M | 0.25 | MMACHC | – | √ | – | √ | n.a. | Absent degranulation and cytotoxicity |
| P15 | F | 44 | SLC27A4 | – | – | – | – | Normal | Normal |
| P16 | F | 0.3 | DSG1 | – | – | – | – | Very low effector and memory T cells, low Th2, low Th1/Th17 | n.a. |
| P17 | F | 1 | DNAI2 | – | – | – | – | Normal | Low proliferation with PWM and PHA |
| P18 | M | 38 | SIX6 | – | – | – | √ | Low switched memory B cells | Low proliferation with anti-CD3 |
| P19 | M | 5 | RECQL4 | √ | – | √ | √ | Increased CD4/CD8 ration | Low proliferation with PWM, anti-CD3, and ConA. |
| PATIENTS WITH INCOMPLETE GENOTYPES/VARIANTS OF UNCERTAIN SIGNIFICANCE (VUS) | |||||||||
| P20 | M | 11 | UNC13D | – | √ | √ | – | Normal | Alternate low/normal degranulation and cytotoxicity |
| P21 | M | 13 | RAG2 | – | – | √ | √ | Low T cells, low NK cells. | Normal proliferation, normal respiratory burst test |
| P22 | M | 4 | PLCG2 | – | √ | – | – | Normal | n.a. |
| P23 | F | 11 | TRAF3 | – | – | – | – | Normal | Absent IL-12 production, normal IFNγ production |
| P24 | M | 2.0 | NOD2 | – | – | – | – | Normal | Normal proliferation, normal respiratory burst test |
| PATIENTS WITH GENETIC FINDINGS POST-CLINICAL EXOME | |||||||||
| P25 | F | 8 | LRBA | √ | √ | √ | – | T+ B- NK- | Low/absent degranulation and cytotoxicity |
| P26 | F | 11 | LRBA | – | – | – | – | 4.2% DN TCR αβ T cells, low effector and memory T cells, low Tregs | Low CD69 and CD40L expression |
| P27 | F | 7 | LRBA | √ | – | – | – | Low pre-switched and switched B cells | Low pneumococcal response |
| P28 | F | 14 | IKZF1 | √ | – | – | – | T+ B- NK+, low pre-switched and switched B cells | Negative ASLO |
| P29 | M | 9 | 13 Mb del cr.6 | – | – | – | – | Normal | Low proliferation with anti-CD3, normal TNFα production in response to LPS, normal degranulation and cytotoxicity |
| P30 | M | 6 | BTK | √ | – | – | – | T+ B- NK+ | n.a. |
| P31 | M | 25 | Gorham-Staut disease | – | √ | – | – | Low CD4 T cells, increased NK cells | Severe defect in IL12 production, altered respiratory burst test |
n.a., not available; -, no; ASLO, anti-streptolysin O; ConA, concanavalin A; DC, dendritic cell; DN, double negative; PHA, phytohemagglutinin; PMA, phorbol 12-myristate 13-acetate; PWM, pokeweed mitogen. √, The patient presents this feature.