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Leukocyte Adhesion Deficiency; Case Report
Fatemeh Behmanesh
Iranian Journal of Pediatrics , 2007,
Abstract: Objective: Leukocyte adhesion deficiency (LAD) disorders, LAD-1 and LAD-2 are rare disease of leukocyte function. LAD-1 results from a lock of leukocyte cell surface expression of 2 integrin molecules (CD11 & CD18) that are essential for leukocyte adhesion to endothelial cells and chemo taxis. Case Presentationt: Our patient a 23-month-old male infant was brought with recurrent skin infections. On examination, the infant was pale with multiple scars in his body. Investigations revealed persisting leukocytosis, serum Immunoglobulin profile and complement were normal. Flow cytometry showed decreased in CD11 and CD18 marker of PMN a diagnosis of LAD1 was made.Conclusion: The accompaniment of persistent leukocytosis and recurrent skin infections will guide us to the primary immune deficiency specially leukocyte adhesion deficiency.
Absence of Bovine Leukocyte Adhesion Deficiency (BLAD) in Holstein Cattle from Mexico
Victor M. Riojas-Valdes,Barbara Carballo-Garcia,Luis E. Rodriguez-Tovar,Martha V. Garza-Zermeno,Rafael Ramirez-Romero,Juan Zarate-Ramos,Ramiro Avalos-Ramirez,Guillermo Davalos-Aranda
Journal of Animal and Veterinary Advances , 2012,
Abstract: Bovine leukocyte adhesion deficiency is an autosomal recessive genetic disease that produces in many cases the early death of Holstein calves, causing economic losses to milk producers and breeders. It is due to a point mutation in position 383 of cDNA of the CD18 gene, leading to a substitution of guanine for adenine and a change of glycine for aspartic acid (position 128). As a consequence, the normal CD11B/CD18 integrine is not functional. The affected animals show recurrent bacterial infections, delayed wound healing, stunted growth and early death. Many countries have followed a policy of detecting carrier bulls with a DNA test in order to eliminate them from Artificial Insemination (AI) programs with great success. In Mexico, no carrier detection program has been implanted, although, most of bulls used for AI comes from the USA, country that have done screening programs for the last 10 years. In order to determine the gene frequency of the BLAD mutation in Northeast Mexico, 61 Holstein animals were analyzed by PCR-RFLP. No evidence of the mutation was found, indicating that the use of USA, BLAD-free bulls in AI programs has probably eliminated the disease in Holstein population in Mexico.
PCR screening and allele frequency estimation of bovine leukocyte adhesion deficiency in Holstein and Gir cattle in Brazil
Ribeiro, Luciana A.;Baron, Erica E.;Martinez, Mário L.;Coutinho, Luiz L.;
Genetics and Molecular Biology , 2000, DOI: 10.1590/S1415-47572000000400021
Abstract: bovine leukocyte adhesion deficiency (blad) is a disease known to affect the holstein cattle breed throughout the world. eighty-eight holstein dairy cows and 88 gir dairy bulls were genotyped by pcr for the cd18 blad alelle. the frequency of the blad mutant allele and the blad-carrier prevalence in brazilian holstein cows were 2.8 and 5.7%, respectively. no mutant allele was found in any of the 88 gir animals. we conclude that the cd18 gene mutation is prevalent in brazilian holstein cattle and absent or present at a very low frequency in gir cattle.
PCR screening and allele frequency estimation of bovine leukocyte adhesion deficiency in Holstein and Gir cattle in Brazil  [cached]
Ribeiro Luciana A.,Baron Erica E.,Martinez Mário L.,Coutinho Luiz L.
Genetics and Molecular Biology , 2000,
Abstract: Bovine leukocyte adhesion deficiency (BLAD) is a disease known to affect the Holstein cattle breed throughout the world. Eighty-eight Holstein dairy cows and 88 Gir dairy bulls were genotyped by PCR for the CD18 BLAD alelle. The frequency of the BLAD mutant allele and the BLAD-carrier prevalence in Brazilian Holstein cows were 2.8 and 5.7%, respectively. No mutant allele was found in any of the 88 Gir animals. We conclude that the CD18 gene mutation is prevalent in Brazilian Holstein cattle and absent or present at a very low frequency in Gir cattle.
New Cases of Bovine Leukocyte Adhesion Deficiency (BLAD) Carriers in Indian Holstein Cattle  [PDF]
Arpita Roy, Rosaiah Kotikalapudi, Rajesh K. Patel*, Radhika Anantaneni and Sanghamitra Katragadda
International Journal of Veterinary Science , 2012,
Abstract: Bovine Leukocyte Adhesion Deficiency (BLAD) is autosomal recessive genetic diseases that affects Holstein breed world wide. It is a disease characterized by reduced expression of the adhesion molecules on neutrophils. The disease caused by mutation which replaces adenine at 383 with guanine that change amino acid, aspartic acid to glycine, leading to wrong protein (CD18) that is impaired in function. Blood samples were collected from 126 Holstein phenotypically normal bulls maintained at different sperm stations in India. PCR-RFLP was performed to detect heterozygous (carrier). Results indicate that out of 120 bulls, 2 bulls (1.59%) appear to be carriers for BLAD. The gene and genotype frequency of recessive allele was estimated 0.008 and 0.016 in the 126 samples respectively. The condition is alarming and emphasizes regular screening of Holstein AI bulls and its crossbreds to avoid risk of spreading BLAD in breedable population of India.
A novel method for rapid and reliable detection of complex vertebral malformation and bovine leukocyte adhesion deficiency in Holstein cattle  [cached]
Zhang Yi,Fan Xuehua,Sun Dongxiao,Wang Yachun
Journal of Animal Science and Biotechnology , 2012, DOI: 10.1186/2049-1891-3-24
Abstract: Background Complex vertebral malformation (CVM) and bovine leukocyte adhesion deficiency (BLAD) are two autosomal recessive lethal genetic defects frequently occurring in Holstein cattle, identifiable by single nucleotide polymorphisms. The objective of this study is to develop a rapid and reliable genotyping assay to screen the active Holstein sires and determine the carrier frequency of CVM and BLAD in Chinese dairy cattle population. Results We developed real-time PCR-based assays for discrimination of wild-type and defective alleles, so that carriers can be detected. Only one step was required after the DNA extraction from the sample and time consumption was about 2 hours. A total of 587 Chinese Holstein bulls were assayed, and fifty-six CVM-carriers and eight BLAD-carriers were identified, corresponding to heterozygote carrier frequencies of 9.54% and 1.36%, respectively. The pedigree analysis showed that most of the carriers could be traced back to the common ancestry, Osborndale Ivanhoe for BLAD and Pennstate Ivanhoe Star for CVM. Conclusions These results demonstrate that real-time PCR is a simple, rapid and reliable assay for BLAD and CVM defective allele detection. The high frequency of the CVM allele suggests that implementing a routine testing system is necessary to gradually eradicate the deleterious gene from the Chinese Holstein population.
The Effect of Gentamicin-Induced Readthrough on a Novel Premature Termination Codon of CD18 Leukocyte Adhesion Deficiency Patients  [PDF]
Amos J. Simon,Atar Lev,Baruch Wolach,Ronit Gavrieli,Ninette Amariglio,Ester Rosenthal,Ephraim Gazit,Eran Eyal,Gideon Rechavi,Raz Somech
PLOS ONE , 2012, DOI: 10.1371/journal.pone.0013659
Abstract: Leukocyte adhesion deficiency 1 (LAD1) is an inherited disorder of neutrophil function. Nonsense mutations in the affected CD18 (ITB2) gene have rarely been described. In other genes containing such mutations, treatments with aminoglycoside types of antibiotics (e.g., gentamicin) were reported to partially correct the premature protein termination, by induction of readthrough mechanism.
Successful treatment of fusarium solani ecthyma gangrenosum in a patient affected by leukocyte adhesion deficiency type 1 with granulocytes transfusions
Fethi Mellouli, Habib Ksouri, Ridha Barbouche, Mongi Maamer, Leila Hamed, Slama Hmida, Assia Hassen, Mohamed Béjaoui
BMC Dermatology , 2010, DOI: 10.1186/1471-5945-10-10
Abstract: We report at our knowledge the first case of a child affected by LAD-1, who experienced during her disease course a multi-bacterial and fungal EG lesion caused by fusarium solani. Despite targeted antibiotics and anti-fungi therapy, the lesion extended for as long as 18 months and only massive granulocytes pockets transfusions in association with G-CSF had the capacity to cure this lesion.We propose that granulocytes pockets transfusions will be beneficial to heal EG especially in severely immunocompromised patients.Leukocyte adhesion deficiency I (LAD I) is an autosomal recessive disorder characterized by defect in CD18 expression on neutrophils, leading to leucocytosis with high numbers of circulating neutrophils and an accumulation of abnormally low number of neutrophils at sites of infection. Recurrent bacterial and fungal infections count among clinical complications of such disorder [1]. Nonetheless, ecthyma gangrenosum (EG) which represents a cutaneous infection mainly associated with pseudomonal sepsis in immunocompromised patient suffering extreme neutropenia [2,3], was never reported in the setting of LAD I.We report a case of a child affected by LAD-1, who experienced a fusarium solani EG lesion. The lesion extended for as long as 18 months and only massive granulocytes pockets transfusions in association with G-CSF had the capacity to cure this lesion.A 9 years old girl affected by LAD-1 developed after a fall an abscess on her knee. Cultures taken from the lesion revealed a Pseudomonas aeruginosa infection. She was treated with amikacine 400 mg/day and imipenem 400 × 2 mg/day for three weeks and local disinfection. Lesion cultures performed one month later were negative. As all patients affected by such immunodeficiency, she was constantly under prophylactic treatment [25 mg/Kg/2 days (sulfamethoxazole + trimetoprime) and 10 mg/Kg/day Itraconazole].Three months later, the patient was readmitted with 7 cm diameter erythematous and edematous lesion around
Leukocyte adhesion and recruitment, and alpha-1-antitrypsin deficiency: a report from ATS 2001, May 18-23, San Francisco
Ian Woolhouse
Respiratory Research , 2001, DOI: 10.1186/rr78
Abstract: The American Thoracic Society international conference is the largest gathering of lung specialists in the world, attended by over 15,000 people from 80 countries. The meeting aims to offer the latest and most significant developments in clinical practice, and clinical and basic research to physicians, scientists and health care workers. The program this year was made up of more than 300 scientific and clinical symposia. In this report I will concentrate on two important aspects relating to the basic mechanisms of inflammation in lung disease, namely leukocyte recruitment and alpha-1-antitrypsin (A1AT) deficiency.Unique mechanisms of leukocyte migration from the bloodstream to the lung have been proposed with regard to the profile of the adhesion molecules, cytokines and chemokines involved, providing potential targets for pharmacological agents to control the inflammatory process. Data presented at this conference provided further insight into the mechanisms of leukocyte adhesion and recruitment into the lung and the potential effects of therapeutic agents on this process.There is accumulating evidence that the mechanisms involved in leukocyte recruitment into the lung are dependent upon the stimulus and the site of migration. Data from SJ Hislip (University College, Ireland) demonstrated that the conversion from CD18-independent to CD18-dependent leukotriene B4 (LTB4)-induced and IL8-induced migration during acute inflammatory episodes may be due to n-formyl methionyl leucyl phenylalanine priming [1]. This effect was demonstrated using healthy neutrophils and antibodies to the CD11/18 integrin complex. In addition U Maus (Justus-Liebig-University, Germany) [2] reported that monocyte recruitment to mouse alveoli was dependent upon CD18, VLA-4 and intercellular adhesion molecule-1 under basal conditions, but following bacterial endotoxin stimulation CD11a and vascular cell adhesion molecule-1 were also involved, indicating a switch of mechanism. As well as bacterial
Adaptive Immune Response to Model Antigens Is Impaired in Murine Leukocyte-Adhesion Deficiency-1 Revealing Elevated Activation Thresholds In Vivo
Thorsten Peters,Wilhelm Bloch,Oliver Pabst,Claudia Wickenhauser,Claudia Uthoff-Hachenberg,Susanne V. Schmidt,Georg Varga,Stephan Grabbe,Daniel Kess,Tsvetelina Oreshkova,Anca Sindrilaru,Klaus Addicks,Reinhold F rster,Werner Müller,Karin Scharffetter-Kochanek
Clinical and Developmental Immunology , 2012, DOI: 10.1155/2012/450738
Abstract: Absence of β2 integrins (CD11/CD18) leads to leukocyte-adhesion deficiency-1 (LAD1), a rare primary immunodeficiency syndrome. Although extensive in vitro work has established an essential function of β2 integrins in adhesive and signaling properties for cells of the innate and adaptive immune system, their respective participation in an altered adaptive immunity in LAD1 patients are complex and only partly understood in vivo. Therefore, we investigated adaptive immune responses towards different T-dependent antigens in a murine LAD1 model of β2 integrin-deficiency (CD18−/−). CD18−/− mice generated only weak IgG responses after immunization with tetanus toxoid (TT). In contrast, robust hapten- and protein-specific immune responses were observed after immunization with highly haptenated antigens such as (4-hydroxy-3-nitrophenyl)21 acetyl chicken γ globulin (NP21-CG), even though regularly structured germinal centers with specificity for the defined antigens/haptens in CD18−/− mice remained absent. However, a decrease in the hapten/protein ratio lowered the efficacy of immune responses in CD18−/− mice, whereas a mere reduction of the antigen dose was less crucial. Importantly, haptenation of TT with NP (NP-TT) efficiently restored a robust IgG response also to TT. Our findings may stimulate further studies on a modification of vaccination strategies using highly haptenated antigens in individuals suffering from LAD1.
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