Background Leukocyte adhesion deficiency type 1(LAD-1)is a rare, autosomal recessive inherited immunodeficiency dlsease characterized by recu rrent severe bacterial lnfection lmpal red pus formation poor wound healing associated with the mutation ln the CD18 gene responsible for the abilitv of the leucocytes to mig rate from the blood stream towards the site of lnflammation Correct and early dlagnosis of LAD-1 is vital to the success of treatment and prevention of agg ressive infections The pu rpose of this study was to collect the clinical findings of the disease and to identify the genetic entity. Methods CDl 8 expression ln the perlpheral blood leukocytes from the patient hls parents and normal control was measu red with flow cytometry The enti re coding regions of the CDl 8 gene were screened with direct sequencing genomic DNA Results CDl8 expression level on thls patient's leukocyte su rface was signlficantly decreased with normal level ln control g roup hls father and mother Gene analysis revealed that thls patient had a homozygous 899A>T missense mutation ln exon 8 of CDl 8 gene causlng the substitution of Asp to Val at the 300 amlno acid Hls parents were both heterOzvaOus carriers whlle no such mutation was found ln 50 normal controls Conclusion This study disclosed a novel point mutation Asp 300 Val located in a highly conserved region(HCR)of CD18 and confirmed the heteroqeneltv of the mutations causlnq LAD-1, lndlcating lt was qulte beneficial to establish correct and early dlagnosis ln chlIdren with severe LAD-1.

Introduction x-linked agarnmagobulinemia(XLA)1s a primary immunodeficiency disorder caused by Bruton’ s tyrosine kLnase (Btk) gene mutation Recent studies suggested genotype-phenotype correlation in XLA. but a definitiveassociation remains controversial. Patients and Methods We examined the relationship between specific Btk gene mutations and sevefitv of clmlcal presentation in 62 Patients with XLA Disease severity was assessed bythe age 0fdisease onsetandthe presence of severe infections, while mutations were classified into severe and mild based on structural and functional consequence by bininformatics analvsis Results Fifty six Btk mutations were identified in 62 patients from 57 kindreds Variation in phenotypes was observed, and there was a tendency of association between genotype and age of disease onset as well as occurrence of severe infections. Conclusion A critical analysis of the circumstances upon presentation also revealed that under-recognition of recurrent infections and relevant thmily history are important hurdles to timely diagnosis of XLA.

Background Hypogammaglobulinemia is common in infant humoral lmmunOdeficlencles and has complicated causes and outcomes We almed to determlRe the clinlcal manlfestations lmmunologlcal changes and outcomes of Shanghal lnfants with hypogammaglobulinemia Methods Patients under 2 years old, having one or more warning signs of primary immunodeficiency disorders, serum immunoglobulin levels below the lower llmlt of reference range per age and with normal numbers for lymphocyte subsets were analyzed and followed uP for 2 to 3 years Results A total of 91 chlld ren fmale-to-female ratio: 2.25: 1) pa rticlpated in the study. 1nltial clinlcal presentation was recu rrent upper respiratory tract infection(46%), invasive infection(3%), atopic disease(32%)IgA reduction(77%)was prevalent; 34% patients had more than one isotype reduced Du ring follow-up, 51 of 62 patients(82.25%)had lmmunoglobulins normalized at the age between 12-48 months; these were dlagnosed as transient hypogammaglobulinemia of infancy (THI)Long-term follow-up may reveal a diagnosis for the remaining 11 infants with persistent lower lmmunoglobulin levels who dld not have antlbody titers measu red Earlier onset was correlated with higher rates of normalization More patients were diagnosed with isolated hypogammaglobulinemia in 2006 compared with the prevlous 4 years (2002-2005) Conclusions The awareness of lmmunodeficiency among pedlatricians has been greatly lmproved Recu rrent otitis medla was not a major lnfection ln our patients THl ls a relatively common condltion associated with lnfant hypogammaglobulinemia Inthe absence of specific antibodytiters, the diagnosis ofTHI can be confirmed retrOspectlvely with lg levels normalized ln follow-uP vlsits Therefore long-term follow-up and frequent re-evaluation of these patients are necessary to dlstingulsh them frOm true prlmary lmmunodeficiency

Sulnlnarg. AD0ptotic cell death is induced by the cross-linking of Fas/APO-1 receptor fCD951 in acute myefogenous leukaemia fAMLl cells Since CD95 ligand fCD95L1 isexpressed on interleukin-2 fIL-21-activated T cells we Investigated the involvenlent of CD95-CD95L pathway in T cell-mediated cytotoxicitv against AML cells Activated CD8+ T cells could efficlently kfll a parental CD95-sensitlye AML cell line MML-1 and to a lesser extent a CD95-resistant clone MML-1R Neither MML-1 nor MML-1R cells were killed by activated CD4+ T cells The blocking monocfonal antibodv (MoAb) against CD95. ZB4. caused a significant inhibition of T-cell-mediated cvtotoxicitv against M1VEL-1 cells but not against MML-1R cells hlteresttngly, MML-1 cells underwent the classic nuclear morphologic changes and DNA fragmentation characteristic of apoptOSiS when culturedwith activatedTcells Enmneratinn ofapoptoticand necrotic nuclei showed that both apoptOSiS and necrosis were induced in MML-1 cells whereas necrosis was exclusively observed in MML-1R cells Apoptosis of MML-1 cells was completely blocked in the presence of ZB4 MoAb Similarly, blocking by ZB4 MoAb significantly Inhibited T-cell-mediated lysis of flesh AML cells in a CD95-sensitive group, but not in a CD95-refractory group In addition CD8+ T cells expressed CD95L 111RNA more abundantly than CD4+ T cells upon activation bv IL-2 These findings suggest that T-cell-mediated cytotoxicity against AML cells requires participation of CD95-CD95L pathway for cytotoxic signal transduction leading to target apoptosis.

AIM: To study the mo rphology and ontogeny of dend ritic celIs of Peyer's patches in rats at dlfferent development periods. METHoDS: The mo rphometric and flow cytometric analyses were performed to detect a the parameters of villous-crypts axis and the number of OX62+DC, OX62+CD4+SIRP+DC,and OX62+CD4 SIRP DC in the small intestine in different g roups of rats. The relationship between the Darameters of villous-axis and the number of DC and DC subtype were analyzed. RESULTS: All mo rPhometric Parameters changed significantly with the develoPment of PuPs in the diffe rent age g roups(F=10.751, 12.374, 16.527, 5.291, 3.486; P=0.000, 0.000, 0.000, 0.001, 0.015). Villous height levels were unstable and increased from 115.24μm to 140.43μm as ea rly as 3 wk postpartum. Villous a rea inc reased significantly between 5 and 7 wk postpa rtum. peeked uP t0 13817. 60μm2 at 7 wk postpa rtum. ViIious height and c rypt depth ratios were relatively stable and inc reased significantly from 2.80±1.01 to 4.54 4-1.56, 9-11 wk Dostpartum. TheexP ression of OX62+DC inc reased from 33.30%4-5.80%t0 80%±17.30%, 3-11 wk postpa rtum(F=5.536, P=0.0013). 0X62+CD4+SIRP+DC subset levels detected in single-cell suspensions of rat tota Peyer's patch dend ritic cells(PP-DCs)increased significantly from 30.73%±5.16%t0 35.50%±4.08%. 5-7 wk postpartum and from 34.20%±1.35% to 43.60%±2.07%9-11 wk postpa rtum(F=7.216, P=0.005). CoNCLUSIoN: This studY conf rms the age-related changes in villous-c rypt axis dlfferentiation in the sma intestine. Simultaneously,there a re also development and matu ration in rat PP-DCs phenotypic exp ression. Furthermo re, the mo rphologica changes of intestinal mucosa and the development of immune cells(especially DC)peaked at 9-11 wk postpa rtum, indicatina that the intestina mucosae reached a relatively mature state at 11 wk ostpa rtum.