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Biallelic mutations in the dedicator of cytokinesis 8 gene (DOCK8) cause a progressive combined immunodeficiency (CID) characterized by susceptibility to severe viral skin infections, atopic diseases, recurrent respiratory infections, and malignancy. Hematopoietic stem cell transplantation (HSCT) is only curative treatment for the disease. However, there is limited information about long‐term outcome of HSCT and its effect to protect against cancer development in DOCK8‐deficient patients. In this study, we retrospectively evaluated clinical and immunologic characteristics of 20 DOCK8‐deficient patients and outcome of 11 patients who underwent HSCT. We aimed to report the experience of our center and the result of the largest transplantation series of DOCK8 deficiency in our country. Median follow‐up time is 71 months (min‐max: 16‐172) in all patients and 48 months (min‐max: 5‐84) in transplanted patients. Atopic dermatitis (18/20), recurrent respiratory tract infections (17/20), and food allergy (14/20) were the most frequent clinical manifestations. Failure to thrive (13/20), liver problems (12/20), bronchiectasis (11/20), chronic diarrhea (10/21), and autism spectrum disorders (3/20) were remarkable findings in our series. Elevated IgE level (20/20) and eosinophilia (17/20), low IgM level (15/20), and decreased CD3+ T (10/20) and CD4+ T (11/20) cell count were prominent laboratory findings. HSCT was performed in 11 patients. All patients achieved adequate engraftment and showed improvement in their clinical and immunologic findings. Atopic dermatitis and food allergies improved in all patients, and their dietary restriction was stopped except one patient who was transplanted recently. The frequency of infections was decreased. The overall survival is 91% in HSCT‐received patients and 80% in all. HSCT at the earliest possible period with most suitable donor‐ and patient‐specific appropriate conditioning regimen and GvHD prophylaxis is lifesaving for DOCK8 deficiency cases. [ABSTRACT FROM AUTHOR]

BM remains an important source of stem cells. The BM characteristics change with age but the estimation of CD34 calculation of one CD34+ cell per 100 nucleated cells is used for all donors including pediatric donors in the operating room before getting the actual CD34 count. In order to see whether this formula is applicable for pediatric donors, we designed a retrospective study to see the affect of the age and sex on the BM NCC, CD34 count, and CD34/ NCC ratios. Ninety-eight BM collections from 91 related donors were evaluated retrospectively (median age: nine yr [1.5-54 yr]; M/F: 41/50). A significant negative correlation was found between the donor age and NCC (r = −0.229, p < 0.05), CD34 count (r = −0.563, p < 0.01), and CD34/ NCC (r = −0.664, p < 0.01). The negative correlation for CD34 count and CD34/ NCC persisted in female and male donor groups. When donors younger than 16 yr of age were compared with the older donor group, the median NCC, median CD34 count, and CD34/ NCC were significantly lower in the older group (p < 0.01). Age and sex have to be taken into consideration to avoid unnecessary high-volume collections and increased operating room time in the younger donors. [ABSTRACT FROM AUTHOR]

Cipe FE, Dogu F, Aytekin C, Yuksek M, Kendirli T, Yildiran A, Bozdogan G, Karatas D, Reisli I, Dalva K, Arpacı F, Ikinciogullari A. HLA-haploidentical transplantations for primary immunodeficiencies: A single-center experience. Abstract: SCID is characterized by profound deficiencies of T and B lymphocytes. HSCT is the only curative treatment for children with SCID. The clinical characteristics and outcome of 30 HLA-haploidentical transplantations in 18 patients (15 SCID, two Omenn syndrome, and one MHC Class II deficiency) are reported here. The age of patients at diagnosis ranged from one and half to nine months (median: four months). The median time was one month between the diagnosis and the time of the initial transplantation. Infused CD34+ stem cell dose was ranged between 7 and 94.2 × 106/kg. Nine of 18 patients were found to be positive for CMV antigenemia at diagnosis; therefore, none of them received a conditioning regimen. The most common complication was graft failure (61%), so repeated transplantations (two to four) were performed in seven patients. The mean time of lymphoid engraftment was 17.5 days (median: 16, range: 11-29 days). Ten of 15 SCID (67%) patients survived with a stable complete donor chimerism. However, all three non-SCID patients died. In conclusion, in the absence of a matched family donor, HLA-haploidentical transplantation from parental donors represents a readily available treatment option especially for patients with SCID, offering a high chance of cure. [ABSTRACT FROM AUTHOR]

Purine nucleoside phosphorylase deficiency is a rare immunodeficiency syndrome characterized by recurrent infections, neurological dysfunction, and autoimmunity. Early diagnosis and hematopoietic stem cell transplantation may reverse the dismal prognosis in PNP deficiency. This report presents a new PNP deficiency case successfully transplanted without a conditioning regimen from an HLA-identical family donor, who developed a complication of disseminated BCG infection. [ABSTRACT FROM AUTHOR]

Abstract Background: The CD44, a cell surface proteoglycan, participates in a variety of function including tumor dissemination and metastasis. However, there are no available data on the prognostic significance of CD44 expression of tumor tissue correlated with serum sCD44 level in childhood leukemias and lymphomas. Methods: Serum levels and leukemic cell tumor tissue expression of CD44 were detected in 54 children with acute leukemia and malignant lymphoma. Serum samples were obtained from all patients before treatment and during remission. Twelve age-matched healthy children were included as a control group. Results: The serum CD44 levels were significantly higher in patients with Hodgkin’s disease (HD), non-Hodgkin’s lymphoma (NHL), Burkitt’s lymphoma (BL) and acute lymphoblastic leukemia (ALL) than those in the control group. The median values were 1627.0, 1336.0, 1318.5, 1730.4, 902.7 ng/mL, respectively, and P<0.001, P<0.01, P<0.01, P<0.05 in comparisons, respectively. However, there was no significant difference between acute myeloid leukemia (AML) and the control group (median values: 900.3 and 902.7 ng/mL, respectively, P>0.05). Serum sCD44 levels significantly declined in HD, NHL and ALL patients who were in complete remission (median values: 684.0, 573.8 and 1101.1 ng/mL, respectively, P<0.05 in each comparison). Patients with HD had higher levels of serum sCD44 and correlated well with higher erythrocyte sedimentation rate (ESR), B-symptoms and advanced-stage disease (P<0.05, P<0.05 and P<0.01, respectively). Expression of CD44 was significantly high in patients with HD and NHL who were in advanced stages of disease. High serum CD44 level was also associated with high tumor tissue expression of CD44 in patients with HD and BL. In addition, patients with higher levels of serum sCD44, had a poorer outcome and survival than those with lower sCD44 levels in HD and NHL groups. Conclusions: A high serum sCD44 level and/or tumor tissue expression at diagnosis is associated with poor prognostic criteria and/or unfavorable outcome in childhood leukemias and lymphomas. [ABSTRACT FROM AUTHOR]

Reports on a case of a 4-year-old boy with respiratory distress and abdominal pain episodes, diagnosed with Chilaiditi syndrome, an interposition of the right colon between the liver and the right hemi diaphragm. Complications associated with Chilaiditi syndrome; Result of immunological studies performed to rule out immunodeficiency; Etiology of the syndrome; Respiratory symptoms of the syndrome.

Presents information on a patient diagnosed with polyglandular autoimmune syndrome, with selective immunoglobulin A deficiency who became complicated with Munchausen syndrome. Occurrence of hypoparathyroidism in the patient; Information on immunoglobulin A deficiency; Characteristics of Munchausen syndrome.