Clinical profile of leukocyte adhesion deficiency type I

Madkaikar, Manisha; Currimbhoy, Z; Gupta, Maya; Desai, Mukesh; Rao, Madu

doi:10.1007/s13312-012-0005-9

Cited by 21 publications

(20 citation statements)

References 9 publications

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“…To the Editor, Leukocyte adhesion deficiency type I (LAD-I) is a rare autosomal recessive primary immunodeficiency disorder that is caused by mutations in ITGB2 gene encoding b2 subunit (CD18) of integrins (1). Integrins are required for neutrophil adhesion to endothelium during their emigration to inflammatory site.…”

Section: Leukocyte Adhesion Deficiency Type I: a Rare Primary Immunodmentioning

confidence: 99%

“…Clinical suspicion is confirmed with integrins detection on neutrophil surface by flow cytometry. Worldwide, only about 300 cases have been reported so far and incidence is one in one million (1). However, due to high rate of consanguineous marriages in Pakistan, this incidence is expected to be higher.…”

Section: Leukocyte Adhesion Deficiency Type I: a Rare Primary Immunodmentioning

confidence: 99%

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Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder

Tipu

2017

Pediatric Allergy Immunology

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Section: Leukocyte Adhesion Deficiency Type I: a Rare Primary Immunodmentioning

confidence: 99%

Section: Leukocyte Adhesion Deficiency Type I: a Rare Primary Immunodmentioning

confidence: 99%

Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder

Tipu

2017

Pediatric Allergy Immunology

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“…No killing studies or molecular analyses were performed. In few cases of LAD I mutational studies were performed and ITGB2 gene mutation was observed 10 . In IFN‐γ and IL‐12 loop deficiency diagnosis was made by generation of IFN‐γ and IL‐12 by mononuclear cells after BCG stimulation.…”

Section: Pids In Indiamentioning

confidence: 99%

Primary immunodeficiencies in India: a perspective

Gupta

Madkaikar

Singh

et al. 2012

Annals of the New York Academy of Sciences

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Although primary immunodeficiency diseases (PIDs) were first reported in India in the 1970s, those diagnoses were based predominantly on clinical presentations-very limited immunological analyses were performed. Therefore, the validity of many early reports of PIDs may be questionable. However, in the last 10-15 years, diagnoses of PIDs have been based on flow cytometric analysis and, in a few cases, by mutational analysis. In India, PIDs in adults are markedly underreported. We present data from two major centers where diagnosis of PID has been focused primarily in children. We highlight some of the limitations and challenges in the diagnosis and therapy of PID, and more recent efforts to establish PID Centers of Excellence and a national PID registry in India.

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“…Only about 300 cases of LAD 1 have been reported worldwide 2 . In India, even though there is a high rate of consanguinity, only a few cases of this recessive disorder have been reported 3 . Pathogenically, LAD is characterized by loss of the leucocyte ability to adhere to the endothelium during the inflammatory cascade, thus preventing their migration to the infected tissues.…”

Section: Introductionmentioning

confidence: 99%