Contributions
Abstract: PB2472
Type: Publication Only
Background
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous and sinopulmonary viral infections and susceptibility to cancer. Laboratory findings include elevated IgE level in serum and eosinophilia. T cell lymphopenia and reduced T cell function have been reported. Patients can also have NK and B cell lymphopenia. IgG levels may elevated but specific antibody responses are impaired. IgM and IgA levels may be reduced in DOCK8 immunodeficiency syndrome was called autosomal recessive hyper IgE syndrome (AR-HIES) and considered a rare form of HIES.
Aims
Therefore, we present three cases with DOCK8 immunodeficiency syndrome who they received an HLA-identical sibling donor bone marrow transplant (BMT).
Methods
First (age:12 years) and second boys (age:1 year) were sibling and their parents were first cousins. All 3 cases had recurrent pulmonary infection, erythematous and eczematous rash on the whole body and hepatosplenomegaly . Furthermore, first case had bilateral chronic supurative otitis and a mass in left auricula and third female patient (age:10 years) also had the clitoral vegetative mass. Therapeutic measures included antiviral and antibacterial prophylaxis, immunoglobulin replacement and allogeneic BMT. The auricular and clitoral masses after ABMT regressed spontaneously and they are follow-up in our clinic. Laboratory findings of 3 cases are demonstrated in the table.
Results
| Case 1 | Case 2 | Case 3 |
WBC (mm3) | 13100 | 21450 | 15940 |
ANC (mm3) | 2150 | 6010 | 5500 |
ALC (mm3) | 2490 | 5860 | 3810 |
AEC (mm3) | 7356 | 5860 | 8607 |
Ig G (mg/dl) | 1670 | 644 | 960 |
IgA(mg/dl) | 126 | 42 | 109 |
Ig M(mg/dl) | 334 | 18.9 | 46.7 |
IgE(IU/ml) | 10300 | 3080 | 8080 |
CD3 (mm3) | 1520 | 10610 | 1836 |
CD4(mm3) | 470 | 5960 | 393 |
CD8(mm3) | 920 | 2910 | 721 |
CD19(mm3) | 670 | 8530 | 567 |
CD16+56(mm3) | 250 | 1560 | 656 |
Conclusion
Early BMT should be strongly considered as a potential curative therapy in DOCK8 immunodeficiency syndrome.
Session topic: 23. Stem cell transplantation - Clinical
Keyword(s): Immune deficiency
Abstract: PB2472
Type: Publication Only
Background
Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous and sinopulmonary viral infections and susceptibility to cancer. Laboratory findings include elevated IgE level in serum and eosinophilia. T cell lymphopenia and reduced T cell function have been reported. Patients can also have NK and B cell lymphopenia. IgG levels may elevated but specific antibody responses are impaired. IgM and IgA levels may be reduced in DOCK8 immunodeficiency syndrome was called autosomal recessive hyper IgE syndrome (AR-HIES) and considered a rare form of HIES.
Aims
Therefore, we present three cases with DOCK8 immunodeficiency syndrome who they received an HLA-identical sibling donor bone marrow transplant (BMT).
Methods
First (age:12 years) and second boys (age:1 year) were sibling and their parents were first cousins. All 3 cases had recurrent pulmonary infection, erythematous and eczematous rash on the whole body and hepatosplenomegaly . Furthermore, first case had bilateral chronic supurative otitis and a mass in left auricula and third female patient (age:10 years) also had the clitoral vegetative mass. Therapeutic measures included antiviral and antibacterial prophylaxis, immunoglobulin replacement and allogeneic BMT. The auricular and clitoral masses after ABMT regressed spontaneously and they are follow-up in our clinic. Laboratory findings of 3 cases are demonstrated in the table.
Results
| Case 1 | Case 2 | Case 3 |
WBC (mm3) | 13100 | 21450 | 15940 |
ANC (mm3) | 2150 | 6010 | 5500 |
ALC (mm3) | 2490 | 5860 | 3810 |
AEC (mm3) | 7356 | 5860 | 8607 |
Ig G (mg/dl) | 1670 | 644 | 960 |
IgA(mg/dl) | 126 | 42 | 109 |
Ig M(mg/dl) | 334 | 18.9 | 46.7 |
IgE(IU/ml) | 10300 | 3080 | 8080 |
CD3 (mm3) | 1520 | 10610 | 1836 |
CD4(mm3) | 470 | 5960 | 393 |
CD8(mm3) | 920 | 2910 | 721 |
CD19(mm3) | 670 | 8530 | 567 |
CD16+56(mm3) | 250 | 1560 | 656 |
Conclusion
Early BMT should be strongly considered as a potential curative therapy in DOCK8 immunodeficiency syndrome.
Session topic: 23. Stem cell transplantation - Clinical
Keyword(s): Immune deficiency