Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder

Tipu, Hamid Nawaz

doi:10.1111/pai.12696

Cited by 3 publications

(5 citation statements)

References 4 publications

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“…It was suspected a case of LAD1 due to leukocyte adhesion deficiency. All these clinical manifestations observed in patients (P-V of family A & P-III of family B) in the present study were coherent to LAD1 cases reported earlier [9][10][11][12] . Different clinical and immunological laboratory tests such as blood complete picture (CP), and serum immunoglobulin levels were measure but LAD1 specific diagnosis was made through flow-cytometry, which revealed low level expressions of CD18 on the leukocyte surface.…”

Section: Discussionsupporting

confidence: 92%

“…Pakistan with common cousin marriages (above 71%), LAD1 is the leading type of PID [10] . Till date more than 25 different cases have been reported [9][10][11][12] .…”

Section: Discussionmentioning

confidence: 99%

“…Leukocyte adhesion and migration is a sequence of a highly dynamic processes which is orchestrated by detailed adhesion molecules such as selectins and integrin's and specific receptors and counter receptors, which are localized on leukocyte and endothelial cells surfaces. At least three different classes of adhesion molecules contribute in leukocyte margination, adhesion and transmigration to the site of inflammation [10,12,13,14,15] .…”

Section: Discussionmentioning

confidence: 99%

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Molecular dissection of two Pakistani families segregating Leukocyte Adhesion Deficiency Type-I

Majeed¹,

Zaman²,

Moazzam³

et al. 2022

JUMDC

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BACKGROUND & OBJECTIVE: Leukocyte adhesion deficiency (LAD1) is an autosomal recessive type of inherited disorder caused by total or partial deficiency of CD18 expression. LAD1 is characterized by recurrent bacterial and fungal infections, in some cases delayed umbilical cord separation, delayed wound healing due to blockade in leukocyte migration to site of inflammation and infection. The present study involves genetic analysis of two unrelated families suffering from LAD1. METHODOLOGY: In the present study, two separated and unrelated Pakistani families are included suffering from Leukocyte Adhesion Deficiency type -1 (PAD1). After detailed clinical evaluation, whole blood samples were collected from patients, parents and available healthy siblings. Genomic DNA was extracted from all the blood samples, and using a specific primer all the coding ITGB2 gene exons were PCR amplified. RESULTS: The amplified products were sanger sequenced. DNA sequencing analysis revealed a nonsense mutation c.186C > A, p.(Cys62*) in exon four and a missense mutation c.382G>T, p.(Asp128Tyr) in exon five of the gene. The mutation is segregating in autosomal recessive pattern in the family. CONCLUSION: Recurrent mutations on a specific locus (gene) changes the allele frequency from a healthy allele to a disease allele and hence play role in new genotype. This research study demonstrates the allelic heterogeneity of the ITGB2 gene in Pakistani patients diagnosed with LAD1. The research findings in the present study suggest that every population should develop national registry of patients suffering from primary immune deficiencies and a mutation database for rare genetic disorders. This will facilitate early diagnosis and genetic counseling to the patient family.

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Section: Discussionsupporting

confidence: 92%

“…Pakistan with common cousin marriages (above 71%), LAD1 is the leading type of PID [10] . Till date more than 25 different cases have been reported [9][10][11][12] .…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Molecular dissection of two Pakistani families segregating Leukocyte Adhesion Deficiency Type-I

Majeed¹,

Zaman²,

Moazzam³

et al. 2022

JUMDC

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“…Primary immunodeficiencies are one of the major topics of interest of PAI-readers will find further recent reports addressing this topic in previous issues of the journal. [20][21][22][23][24][25] Stephanie Metzler…”

Section: Antibiotic Use Favors Early-life Allergies Intrauterine Blomentioning

confidence: 99%

“…They further discuss the contribution of this genetic analysis to the clinical diagnosis and evoke possible future therapeutic modalities in these patients. Primary immunodeficiencies are one of the major topics of interest of PAI—readers will find further recent reports addressing this topic in previous issues of the journal …”

mentioning

confidence: 99%

Antibiotic use favors early‐life allergies, intrauterine blood flow may influence respiratory allergies, and features of hyper‐IgE syndrome

Eigenmann

2019

Pediatric Allergy Immunology

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β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1)

et al. 2020

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Leukocyte adhesion deficiency type I: A rare primary immunodeficiency disorder

Cited by 3 publications

References 4 publications

Molecular dissection of two Pakistani families segregating Leukocyte Adhesion Deficiency Type-I

Molecular dissection of two Pakistani families segregating Leukocyte Adhesion Deficiency Type-I

Antibiotic use favors early‐life allergies, intrauterine blood flow may influence respiratory allergies, and features of hyper‐IgE syndrome

β2 Integrin Gene (ITGB2) mutation spectra in Pakistani families with leukocyte adhesion deficiency type 1 (LAD1)

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