Leukocyte Adhesion Deficiency, Type I; Lad

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Leukocyte Adhesion Deficiency, Type I; Lad

ITGB2

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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

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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.

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 Panel complete gene list CFB, THBD, SERPING1, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD59, CFHR3, COLEC11, CFD, DGKE, FCN3, CFH, CFHR1, CFI, ITGB2, MASP1, MASP2, CD46, CFP, PIGA 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 Panel complete gene list STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B, FERMT3, CSF2RA, CSF3R, G6PC3, CTSC, CXCR4, CYBA, CYBB, USB1, JAGN1, MLPH, DNM2, LAMTOR2, SLC46A1, ELANE, FCGR3B, FPR1, ACKR1, ISG15, SLC37A4, GATA1, GATA2, GFI1, HFE, HPS1, IRF8, IFNGR1, IFNGR2, AP3B1, IL12B, IL12RB1, ITGB2, MPO, MYO5A, NCF1, NCF2, NCF4, RAB27A, RAC2 Specificity 2 % Genes 100 %
Leukocyte adhesion deficiency type 1. By Praxis fuer Humangenetik Wien (Austria). ITGB2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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