Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants
"nLeukocyte adhesion deficiency type 1 (LAD 1) is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1). These two infant boy patie...
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Tehran University of Medical Sciences
2010-07-01
|
| Series: | Acta Medica Iranica |
| Subjects: | |
| Online Access: | http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/16208.pdf&manuscript_id=16208 |
| _version_ | 1828966237028220928 |
|---|---|
| author | Zohreh Kavehmanesh Zahra Khalili Matinzadeh Susan Amirsalari Mohammad Torkaman Shahla Afsharpayman Morteza Javadipour |
| author_facet | Zohreh Kavehmanesh Zahra Khalili Matinzadeh Susan Amirsalari Mohammad Torkaman Shahla Afsharpayman Morteza Javadipour |
| author_sort | Zohreh Kavehmanesh |
| collection | DOAJ |
| description | "nLeukocyte adhesion deficiency type 1 (LAD 1) is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1). These two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the age of 38 and 75 days -old, respectively. Parents of two patients were first cousins and their grandmothers also were first cousins. The history of delayed umbilical cord separation was shown in both patients. Patient 1 had history of omphalitis, conjunctivitis, skin lesion of groin area and abscess formation of vaccination site, and had infective wound of eye-lid at the last admission. Patient 2 had history of omphalitis and soft tissue infection of right wrist at the last admission. Laboratory findings showed marked leukocytosis and low CD18 levels (6.6% in Patient 1 and 2.4 % in Patient 2). In Patient 1 recurrent infections were treated with antibiotic regimens and received bone marrow transplantation but Patient 2 died because of septicemia, generalized edema, ascites and progression to acute renal failure at 4 months of age. Due to considerable rate of consanguineous marriages in parents of Leukocyte adhesion deficiency patients, sequence analysis especially for prenatal diagnosis in subsequent pregnancies and genetic counseling is recommended. |
| first_indexed | 2024-12-14T11:27:43Z |
| format | Article |
| id | doaj.art-39c84af3a96d4fbfb15a186095bb1326 |
| institution | Directory Open Access Journal |
| issn | 0044-6025 |
| language | English |
| last_indexed | 2024-12-14T11:27:43Z |
| publishDate | 2010-07-01 |
| publisher | Tehran University of Medical Sciences |
| record_format | Article |
| series | Acta Medica Iranica |
| spelling | doaj.art-39c84af3a96d4fbfb15a186095bb13262022-12-21T23:03:26ZengTehran University of Medical SciencesActa Medica Iranica0044-60252010-07-01Vol. 48No. 4273276Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn InfantsZohreh KavehmaneshZahra Khalili MatinzadehSusan AmirsalariMohammad TorkamanShahla AfsharpaymanMorteza Javadipour"nLeukocyte adhesion deficiency type 1 (LAD 1) is an autosomal recessive hereditary disorder resulting from deficiency of CD18, characterized by recurrent bacterial infections. We report two consanguineous patients with Leukocyte adhesion deficiency type 1( LAD1). These two infant boy patients were referred to us, within a short period of time, with the complaints of recurrent infections at the age of 38 and 75 days -old, respectively. Parents of two patients were first cousins and their grandmothers also were first cousins. The history of delayed umbilical cord separation was shown in both patients. Patient 1 had history of omphalitis, conjunctivitis, skin lesion of groin area and abscess formation of vaccination site, and had infective wound of eye-lid at the last admission. Patient 2 had history of omphalitis and soft tissue infection of right wrist at the last admission. Laboratory findings showed marked leukocytosis and low CD18 levels (6.6% in Patient 1 and 2.4 % in Patient 2). In Patient 1 recurrent infections were treated with antibiotic regimens and received bone marrow transplantation but Patient 2 died because of septicemia, generalized edema, ascites and progression to acute renal failure at 4 months of age. Due to considerable rate of consanguineous marriages in parents of Leukocyte adhesion deficiency patients, sequence analysis especially for prenatal diagnosis in subsequent pregnancies and genetic counseling is recommended.http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/16208.pdf&manuscript_id=16208Leukocyte- adhesion deficiency syndromeconsanguinitysigns and symptoms |
| spellingShingle | Zohreh Kavehmanesh Zahra Khalili Matinzadeh Susan Amirsalari Mohammad Torkaman Shahla Afsharpayman Morteza Javadipour Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants Acta Medica Iranica Leukocyte- adhesion deficiency syndrome consanguinity signs and symptoms |
| title | Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants |
| title_full | Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants |
| title_fullStr | Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants |
| title_full_unstemmed | Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants |
| title_short | Leukocyte Adhesion Deficiency: Report of Two Family Related Newborn Infants |
| title_sort | leukocyte adhesion deficiency report of two family related newborn infants |
| topic | Leukocyte- adhesion deficiency syndrome consanguinity signs and symptoms |
| url | http://journals.tums.ac.ir/PdfMed.aspx?pdf_med=/upload_files/pdf/16208.pdf&manuscript_id=16208 |
| work_keys_str_mv | AT zohrehkavehmanesh leukocyteadhesiondeficiencyreportoftwofamilyrelatednewborninfants AT zahrakhalilimatinzadeh leukocyteadhesiondeficiencyreportoftwofamilyrelatednewborninfants AT susanamirsalari leukocyteadhesiondeficiencyreportoftwofamilyrelatednewborninfants AT mohammadtorkaman leukocyteadhesiondeficiencyreportoftwofamilyrelatednewborninfants AT shahlaafsharpayman leukocyteadhesiondeficiencyreportoftwofamilyrelatednewborninfants AT mortezajavadipour leukocyteadhesiondeficiencyreportoftwofamilyrelatednewborninfants |