Transient hypogammaglobulinemia of infancy (THI) is characterized by recurrent infections and one or more reduced serum immunoglobulin (Ig) levels. Usually, this clinical picture resolves spontaneously by 3 yr of age. However, hypogammaglobulinemia persists until adolescence in some patients. In recent years, those patients have been classified as undefined/unclassified hypogammaglobulinemia (UCH). We aimed to evaluate the clinical and immunologic features of patients with THI and UCH considering age of recovery and to assess relationships between hypogammaglobulinemia, infections, and allergic manifestations. We reviewed the medical records of children followed with a diagnosis of hypogammaglobulinemia from 2001 to 2007. Patients with decreased levels (<2 s.d.) of one or more major Ig isotypes (IgG, IgA, IgM) with normal antibody responses and lymphocyte subpopulations were included (n = 374). Those patients whose Igs normalized during the follow-up period were classified as THI and the others as UCH. The THI group consisted of 71 patients (27 females, 44 males) with a mean recovery age of 68.87 +/- 36.5 months. About 95% of patients with THI recovered before 10 yr of age. The UCH group consisted of 303 patients (105 females, 198 males) with a mean age at diagnosis of 52 +/- 42 months. The most common presenting manifestations in the THI and UCH groups were upper respiratory tract infections (URTIs), lower respiratory tract infections, and asthma (42%, 50%, and 52% in the THI group vs. 39%, 53%, and 55% in the UCH group, respectively). In the THI group, the prevalence of atopic disease was related to age and found to be increased markedly after 44 months. In all patients, the prevalence of asthma was independently and positively associated with family history of atopy and age, whereas it was negatively associated with recurrent URTIs. Patients with THI and UCH have similar clinical and immunologic features. The normalization of Igs may be delayed in a majority of the patients with hypogammaglobulinemia. This observation may be a contribution to the classical definition and diagnostic criteria for THI.

Homozygous CD19 mutations lead to an antibody deficiency due to disruption of the CD19 complex and consequent impaired signaling by the B-cell antigen receptor. We studied the effects of heterozygous CD19 mutations on peripheral B-cell development and antibody responses in a large family with multiple consanguineous marriages. Sequence analysis of 96 family members revealed 30 carriers of the CD19 mutation. Lymphocyte subset counts were not significantly different between carriers and noncarriers in three different age groups (0-10 years; 11-18 years; adults). B cells of carriers had reduced CD19 and CD21 median expression levels, and had reduced proportions of transitional (0-10 years) and CD5 þ B cells (adults). CD19 carriers did not show clinical signs of immunodeficiency; they were well capable to produce normal serum Ig levels and had normal responses to primary and booster vaccinations. The frequency of mutated Vk alleles was not affected. Heterozygous loss of CD19 causes some changes in the naive B-cell compartment, but overall in vivo B-cell maturation or humoral immunity is not affected. Many antibody deficiencies are not monogenetic, but likely caused by a combination of multiple genetic variations. Therefore, functional analyses of immune cell function should be carried out to show whether heterozygous mutations contribute to disease.

This study showed that propofol anaesthesia increased the respiratory burst function of polymorphonuclear leucocytes in bronchoalveolar lavage fluid.

We aimed to evaluate the role of the CD19 complex in the pathogenesis of transient hypogammaglobulinemia of infancy (THI) and to better characterize the subsets of memory B cells. The study population consisted of 22 male and 14 female patients with a mean age at presentation of 20 ± 9.9 months. The CD19 complex and B cell subsets were evaluated by flow cytometry. While the CD19 median fluorescence index (MFI) in patients with THI was significantly lower than controls (122.9 ± 66.7 in patients; 184.2 ± 39 in controls, p < 0.01), expression of CD21 and CD81 was increased (94.4 ± 3, 96.8 ± 2.5 % in patients; 91 ± 3.9; 94.7 ± 3.5 % in controls, p < 0.01 vs. p < 0.05, respectively). The expressions of switched memory B cells and IgM memory B cells were found to be reduced in THI. Considering that the CD19 complex regulates the events following antigen stimulation, the change in CD19 complex detected in THI may be related to insufficiency of antibody production.

Although the presence of physiologic anti-CD95 (Fas, APO-1) autoantibodies in intravenous immunoglobulin (IVIG) preparations is known, the effects of these antibodies in patients with common variable immunodeficiency are unclear (CVID). The aim of the study was to assess the effects of IVIG in Fas expression, activation markers and the subsets of T cells in patients with CVID. We studied 15 cases with CVID and 10 healthy controls with no signs of immunodeficiency. The Fas expression of T cells, activation markers (CD25, CD69 and HLA-DR) and T-cell subsets were analyzed by four-color flow cytometry. We found that the Fas expression of CD3+ T cells in patients was significantly higher than in controls. In addition, there was a significant increase in the Fas expression of CD3+ T cells and CD4+ T cells, and the CD25 expression of CD3+ and CD4+ T cells after IVIG supplementation (P < 0.05). The CD69 and HLA-DR expressions of T cells and CD8+ T cells were not affected by IVIG infusion. Our observation showed that IVIG replacement causes an increase in the Fas and CD25 expressions in patients with CVID. These data suggest that the Fas protein may have an important role in the effects of IVIG for the control of autoimmunity in patients with CVID, as well as in the generation of autoimmune disease.

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A AB BS S T TR RA AC CT TO Ob bj je ec ct ti iv ve es s: : We aimed to determine whether the level of mRNA expression of antioxidant gene nuclear factor erythroid 2-related factor 2 (NRF2) in spermatozoa is associated with sperm function and also the seminal plasma superoxide dismutase (SOD) enzyme activity was to investigate in asthenozoospermia and oligoasthenozoospermia cases. M Ma at te er ri ia al l a an nd d M Me et th ho od ds s: : In this study asthenozoospermic and oligoasthenozoospermic 41 patients and normozoospermic 48 healthy individuals were included. Quantitative real-time reverse transcriptase polymerase chain reaction was used for detecting level of NRF2 mRNA expression in ejaculated spermatozoa and colorimetric method was also used to evaluate seminal plasma SOD activity. R Re es su ul lt ts s: : Results revealed that both the level of NRF2 mRNA expression and the seminal plasma SOD activity levels have no statistically significant difference between the two study groups (respectively p=0.633, p=0.502). A significant correlation was not observed between the level of NRF2 mRNA expression and specific sperm function parameters (concentration, vitality, immotility, progressive motility, non-progressive motility, abnormal morphology) and also seminal plazma SOD activity (respectively; all p>0.05, p=0.553). Additionally there was no significant correlation between seminal plasma SOD activity and specific sperm function parameters (all p>0.05). C Co on nc cl lu us si io on n: : These data indicated that NRF2 mRNA expression level and seminal plasma SOD activity did not show any significant difference in men with low sperm motility and that these factors were not related to specific sperm function parameters. As a result, it is thought that the NRF2 gene cannot be sufficient for using as a marker to determine the male infertility. In addition, this study showed that the SOD activity is not a sufficient marker to predict sperm fertilization potential.K Ke ey y W Wo or rd ds s: : NFE2L2 protein, human; superoxide dismutase; spermatogenesis; sperm motility Ö ÖZ ZE ET T G Gi ir ri iş ş: : Asthenozoospermik ve oligoasthenozoospermik olguların spermatozoalarında antioksidan gen olan transkripsiyon faktörü nükleer faktör eritroid 2 ilişkili faktör 2 (NRF2)'nin mRNA ekspresyon düzeyinin sperm fonksiyonları ile olan ilişkisi ve ayrıca seminal plazma süperoksit dismutaz (SOD) enzim aktivitesinin araştırılması amaçlandı. G Ge er re eç ç v ve e Y Yö ön nt te em ml le er r: : Bu çalışmaya, 41 asthenozoospermik ve oligoasthenozoospermik olgudan oluşan hasta grubu ve 48 sağlıklı bireyden oluşan normozoospermik kontrol grubu dahil edildi. Olguların ejekulat spermatozoalarında NRF2 mRNA ekspresyon düzeyini belirlemek için kantitatif real-time reverse transkriptaz polimeraz zincir reaksiyonu ve seminal plazma SOD aktivitesini değer-lendirmek için ise kolorimetrik yöntem kullanıldı. B Bu ul lg gu ul la ar r: : Araştırmamız sonucunda, hasta grubunun hem NRF2 mRNA ekspresyon düzeyi hem de seminal plazma SOD aktivitesi kon...

High MPV/PLT value can be a good predictor for the diagnosis of 22q11.2 deletion syndrome. We suggest that in patients with facial dysmorphism and retardation in neurodevelopmental milestones and if MPV≥8.6fl, MPV/PLTx105 ratio≥3.3 and PLT count ≤265,500/mm3, the patients should be tested by FISH analysis to confirm the 22q11.2 deletion. If there are no macrothrombocytes, the 10p13 deletion should be tested in suspected cases.