Leukocyte Adhesion Deficiency, Type I; Lad
Description
Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.
Clinical Features
Top most frequent phenotypes and symptoms related to Leukocyte Adhesion Deficiency, Type I; Lad
- Intellectual disability
- Short stature
- Generalized hypotonia
- Intellectual disability, severe
- Immunodeficiency
- Pneumonia
- Arthritis
- Confusion
- Bruising susceptibility
- Abnormal bleeding
And another 19 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Leukocyte Adhesion Deficiency, Type I; Lad Is also known as lad1, lymphocyte function-associated antigen 1 immunodeficiency, lfa1 immunodeficiency.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
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Leukocyte Adhesion Deficiency, Type I; Lad Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 ITGB2 Gene Sequencing.
By GeneDx (United States).
ITGB2
Specificity
100 %
Genes
100 % |
 ITGB2. Complete sequencing.
By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
ITGB2
Specificity
100 %
Genes
100 % |
 Leukocyte adhesion deficiency (sequence analysis of ITGB2 gene).
By CGC Genetics (Portugal).
ITGB2
Specificity
100 %
Genes
100 % |
|
CD18 gene.
By Immunology Diagnostics Laboratory Seattle Children's Research Institute (United States).
ITGB2
Specificity
100 %
Genes
100 % |
 Leukocyte adhesion deficiency.
By Centogene AG - the Rare Disease Company (Germany).
ITGB2
Specificity
100 %
Genes
100 % |
|
Complement deficiencies Panel.
By CeGaT GmbH (Germany).
CFB, THBD, SERPING1, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD59 , (...)
View the complete list with 14 more genes
Specificity
3 %
Genes
100 % |
|
Defects of phagocytosis Panel.
By CeGaT GmbH (Germany).
STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B , (...)
View the complete list with 39 more genes
Specificity
2 %
Genes
100 % |
 Leukocyte adhesion deficiency type 1.
By Praxis fuer Humangenetik Wien (Austria).
ITGB2
Specificity
100 %
Genes
100 % |
Sources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TOWNES-BROCKS SYNDROME 2; TBS2 GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME; GIDID EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 CONOTRUNCAL HEART MALFORMATIONS; CTHM PORETTI-BOLTSHAUSER SYNDROME; PTBHS
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