| Study (year) | Patient Count | Variant(s) (cDNA/protein) | Diagnostic Method(s) | Key Labs (CD4/T/B/NK, Ig) | Key Infections/Complications | Treatments (IVIG, prophylaxis, HSCT, chemo/rituximab) | Outcomes |
|---|---|---|---|---|---|---|---|
| Abdollahpour et al. (2012) (pqac-00000001, pqac-00000006) | 3 | c.G750A, p.W250X | Gene sequencing, SNP homozygosity mapping, Western blot | Profound CD4+, T, and B lymphopenia; high IgE, IgG, IgA; low IgM; neutropenia | Recurrent bacterial/viral infections, skin abscesses, mucocutaneous candidiasis, cutaneous warts (HPV57/84), EBV lymphadenopathy, ASD | NR | NR |
| Dang et al. (2016) (pqac-00000012, pqac-00000038) | 3 | c.442C>T, p.Arg148Stop | WES, linkage analysis, Sanger sequencing, Western blot | Profound CD4 lymphopenia, absent naive T cells, hypergammaglobulinemia, low IgG2 | Recurrent infections, cryptosporidiosis, EBV-LPD | Rituximab, steroids, HSCT | 1 died from HSCT complications, 1 fatal CMV immune dysregulation, 1 good HSCT outcome |
| Schipp et al. (2018) (pqac-00000004, pqac-00000039) | 2 | c.1103delT (p.M368RfsX2); c.525+2T>G | Targeted exome enrichment, WES, Sanger, qRT-PCR, Western blot | Profound CD4 lymphopenia, elevated DNT cells, variable Ig (low IgG, high IgM/IgA) | Recurrent infections, EBV-negative B-cell and Hodgkin lymphoma, ALPS-like phenotype, active EBV, pulmonary valve stenosis | NHL-BFM 04 chemo, IVIG, steroids, rituximab, HSCT | P1 achieved complete lymphoma remission |
| Radwan et al. (2020) (pqac-00000008, pqac-00000043) | 1 | Large deletion (exons 4-8) | Targeted NGS panel | Profound CD4 lymphopenia (0.26x10^9/L), high IgE (800 IU/L) | Recurrent chest infections, persistent EBV viremia, mycobacterial-like caseous granuloma, Burkitt's lymphoma | Anti-TB therapy, monthly IVIG, LMB chemotherapy | Died (chemo failed to control lymphoma) |
| Guennoun et al. (2021) (pqac-00000002, pqac-00000042) | 1 | c.871C>T, p.Arg291* | WGS, Sanger, qRT-PCR, Western blot, PhIP-Seq, flow cytometry | Selective CD4+ lymphopenia, reduced naive T cells, normal B and NK counts, expanded CD56bright NK | Recurrent skin/chest infections, bronchiectasis, pulmonary TB, persistent EBV viremia, intermittent neutropenia | Prolonged anti-TB drugs, asthma therapy | Persistent EBV viremia, recurrent hospitalizations |
| Jørgensen et al. (2021) (pqac-00000013, pqac-00000041) | 1 | c.523dupA, p.(L174fsTer45) | Targeted NGS panel, Sanger, Western blot, RT-qPCR | Profound CD4 lymphopenia, reduced switched B cells, hyperglobulinemia, intermittent neutropenia | Severe herpes zoster, chronic warts, recurrent pneumonias, hypothyroidism, short stature | Ig substitution (IVIG) | Surviving (HSCT not planned) |
| Al-Saud et al. (2024) (pqac-00000007, pqac-00000045) | 1 | Novel truncation of C-terminal SARAH domain | NGS, flow cytometry | Severe T cell lymphopenia (<500/mm3), low B cells, normal NK cells, high IgM, normal IgG/IgA | Recurrent infections (otitis, UTI, oral thrush), severe gastroenteritis | IVIG (0.4 g/kg/4 weeks), prophylactic antibiotics and antifungals | Surviving well (mild clinical phenotype) |
| Ying et al. (2024) (pqac-00000017, pqac-00000027) | 1 | p.Trp425X | Exome sequencing, Sanger, flow cytometry | CD4+ T-cell lymphopenia, 67.4% DNT cells (Vδ2+ γδ T cells) | Epidermodysplasia verruciformis (HPV38), DLBCL, EBV viremia | NR | NR |


*Table: A summary of STK4 deficiency patient cases from the retrieved literature, outlining key genetic variants, diagnostic methods, immunologic lab results, clinical complications, and treatments.*