Table 2 An overview of the clinical and immunological findings of reported cases with DOCK2 deficiency
No | Sex | Ethnicity | CON | FH | AOO (m) | AF-Inf | Infection | Other manifestations | Immunological abnormality | DOCK2 mutation/protein | Treatment | Outcome | Refs. |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | M | Lebanese | + | − | 3 | 3 | RSV bronchiolitis, recurrent pneumonia, | – | Lymphopenia, decreased CD3 +, CD4 + , and CD8 +, decreased IgM level, decreased T-cell response to PHA | p.Y1242Yfs*33 | HSCT (myeloablative) | Alive | [3] |
2 | F | Finnish | − | − | < 24 | < 24 | Recurrent otitis media, pneumonia, diarrhea, Varicella, M. avium, and HHV-6 infection | Three episodes of thrombocytopenia | Lymphopenia, decreased CD3 +, CD4 +, CD8 +, and CD19 + cells decreased IgM, increased IgE and IgA, decreased T-cell response to PHA, decreased TREC, Non-protective against tetanus toxoid, PRP, Streptococcus pneumoniae | p.R1104W, p.Q1324* | HSCT (reduced-intensity) | Alive | [3] |
3 | M | Turkish | + | + | 3 | 3 | Recurrent respiratory tract infections, meningoencephalitis, severe varicella infection, mumps, | – | Lymphopenia, decreased CD3 +, CD4 +, and CD8 +, decreased T-cell response to PHA, No response to VZV | p.R751S | ND | Dead | [3] |
4 | M | Turkish | + | − | < 3 | < 3 | Chronic diarrhea, oral moniliasis, recurrent pneumonia with parainfluenza virus type 3 and adenovirus, CMV infection, Klebsiella pneumoniae sepsis | FTT, nodular erythematous lesion at the site of bacille Calmette–Guerin vaccination, hepatomegaly with persistently elevated aminotransferase levels, colitis | Lymphopenia, decreased CD3 +, CD4 +, CD19 +, and NK, decreased IgM level, increased IgA, decreased T-cell response to PHA, decreased TREC, Response to HBV not detectable | p.F744Cfs*27 | ND | Dead | [3] |
5 | M | Hispanic | − | − | 4 | 4 | Interstitial pneumonia | Rectal fistula | Decreased CD3 +, CD4 +, CD8 +, increased NK cells, increased IgM and IgE, decreased T-cell response to PHA, Response to KLH not detectable | p.P1476L, p.M120Mfs*22 | High-dose trimethoprim–sulfamethoxazole, HSCT (myeloablative) | Alive | [3] |
6 | F | Iranian | + | − | 2 | 2 | Septicemia, diarrhea, CMV infection | Seizures | Thrombocytopenia, lymphocytopenia, reduced CD4 +, CD19 +, NK cells, elevated IgM, decreased TREC, T cell response to PHA and T cell response to BCG | c.C3310T, p.R1104W | Antibiotics, antiviral treatment, and IVIG | Dead | [5] |
7 | M | Moroccan | + | + | 0 | 0 | E.coli pyelonephritis | Ulcerative perianal dermatitis, Omenn syndrome, nephrotic syndrome, ARDS, capillary leak syndrome | Lymphopenia, decreasedCD3 +, CD4 +, CD8 +, CD19 +, and NK, decreased IgM and IgA, Absent TREC, absent T cell response to PHA | c.2704-2 A > C | HSCT, etanercept, tocilizumab, and high-dose steroids | Dead | [12] |
8 | M | Moroccan | + | + | 2.5 | ND | Sepsis, Respiratory, distress, Hepatitis, CMV, Enterovirus, Rhinovirus, and Pneumocystis jiroveci infections | ARDS, Bloody diarrhea Livedo | Lymphopenia, decreased CD3 +, CD4 +, CD8 +, absent T cell response to PHA | c.2704-2 A > C | HSCT | Dead | [12] |
9 | F | Moroccan | + | + | 0 | ND | Influenza A and Rhinovirus infection | Bloody diarrhea | Lymphopenia, decreased CD3 +, CD4 +, CD8 +, CD19 +, and NK | c.2704-2 A > C | HSCT (without conditioning) | Alive | [12] |
10 | F | ND | + | ND | 0.5 | 0.5 | Recurrent sinopulmonary infections, CMV viremia | Chronic diarrhea | Decreased CD4 + and IgG level, increased IgM, decreased T cell response to PHA and BCG | c.del 902-1078 | IVIG, ganciclovir, HSCT (myeloablative) | Alive | [13] |
11 | M | ND | + | ND | 5 | 5 | Recurrent pneumonias, oral candidiasis, sepsis | Chronic diarrhea | Decreased CD4 + and CD19 +, panhypogammaglobulinemia | Phe848fs | IVIG, prophylactic antibiotics | Dead | [13] |
12 | M | Indian | ND | ND | ND | ND | Otitis media, recurrent pneumonia with atypical mycobacterial and influenza Infections | – | Decreased CD3 +, decreased IgA and IgM level | c.3430C > T, p.Arg1144Ter | ND | ND | [16] |
13 | ND | Chinese | ND | ND | ND | ND | ND | ND | Leukopenia, increased CD3 +, CD4 +, and CD8 +, decreased CD19 + and NK, decreased IgM and IgG | c.5335A > T, c.2423 T > C | ND | ND | [14] |
14 | ND | Chinese | ND | ND | ND | ND | ND | ND | Increased CD19 +, decreased NK, increased IgA and IgG | c.743A > G, c.5048C > T | ND | ND | [14] |
15 | F | Iranian/Turkish | + | + | 18 | 18 | Pneumonia, otitis media, skeletal tuberculosis | Renal failure, pneumothorax, and seizure | Lymphopenia, decreased CD4 +, increased CD19 +, CD20 +,CD16 +, and CD56 +, decreased IgM, increased IgE, Non-protective against diphtheria toxoid | c.1512delG: p.I505Sfs*28 | Antibiotics, antiviral, antifungal, and anti-tuberculosis drugs, peritoneal dialysis | Dead | Our case |