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.
And another 19 symptoms. If you need more information about this disease we can help you.
Leukocyte Adhesion Deficiency, Type I; Lad Is also known as lad1, lymphocyte function-associated antigen 1 immunodeficiency, lfa1 immunodeficiency.
Panel Name, Specifity and genes Tested/covered |
---|
![]() By GeneDx (United States).
ITGB2
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
ITGB2
Specificity
100 %
Genes
100 % |
![]() By CGC Genetics (Portugal).
ITGB2
Specificity
100 %
Genes
100 % |
![]() By Immunology Diagnostics Laboratory Seattle Children's Research Institute (United States).
ITGB2
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
ITGB2
Specificity
100 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() By Praxis fuer Humangenetik Wien (Austria).
ITGB2
Specificity
100 %
Genes
100 % |
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 GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 1; GEFSP1 EPILEPSY, PROGRESSIVE MYOCLONIC, 6; EPM6 CONOTRUNCAL HEART MALFORMATIONS; CTHM FOVEAL HYPOPLASIA 2; FVH2