{"Name":"Leukocyte adhesion deficiency 1","DiseaseID__c":"GARD:0006893","id":6893,"encodedName":"leukocyte-adhesion-deficiency-1","IsDeleted":false,"Disease_Name_Full__c":"Leukocyte adhesion deficiency 1","Xref_IDs__c":"234582006; C0398738; C4689; C535887; DOID:0110910; MEDGEN:98310; MONDO:0007293; OMIM:116920; ORPHA:99842","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0007293","Disease_Description__c":"Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections.","GARD_Name__c":"Leukocyte adhesion deficiency 1","GARD_Synonym__c":"itgb2 leukocyte adhesion deficiency; lad - leukocyte adhesion deficiency type 1; lad 1; lad-i; lad-type i; lad1; leukocyte adhesion deficiency - type 1; leukocyte adhesion deficiency caused by mutation in itgb2; leukocyte adhesion deficiency type 1; leukocyte adhesion deficiency type i; leukocyte adhesion deficiency, type i; leukocyte adhesion molecule deficiency - type 1; lfa 1 immunodeficiency; lfa-1 deficiency; lfa-i deficiency; lfa1 immunodeficiency; lymphocyte function-associated antigen 1 immunodeficiency; mo-1 deficiency","Curated_Disease_Description_Source__c":"MONDO:0007293","Curated_Disease_Description__c":"Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections. One of the first signs of leukocyte adhesion deficiency type 1 is a delay in the detachment of the umbilical cord stump after birth. In newborns, the stump normally falls off within the first two weeks of life; but, in infants with leukocyte adhesion deficiency type 1, this separation usually occurs at three weeks or later. In addition, affected infants often have inflammation of the umbilical cord stump (omphalitis) due to a bacterial infection. In leukocyte adhesion deficiency type 1, bacterial and fungal infections most commonly occur on the skin and mucous membranes such as the moist lining of the nose and mouth. In childhood, people with this condition develop severe inflammation of the gums (gingivitis) and other tissue around the teeth (periodontitis), which often results in the loss of both primary and permanent teeth. These infections often spread to cover a large area. A hallmark of leukocyte adhesion deficiency type 1 is the lack of pus formation at the sites of infection. In people with this condition, wounds are slow to heal, which can lead to additional infection. Life expectancy in individuals with leukocyte adhesion deficiency type 1 is often severely shortened. Due to repeat infections, affected individuals may not survive past infancy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:99842","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0007293","ORPHANET_ID__c":"ORPHA:99842","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Deficiencia de adhesión leucocitaria tipo i","Spanish_Description_Source__c":"ORPHA:99842","Spanish_Description__c":"La deficiencia de adhesión leucocitaria de tipo 1 (DAL-1) es una forma de DAL (ver este término) caracterizada por la aparición recurrente de infecciones bacterianas que amenazan la vida del paciente.","Spanish_Disease_Name__c":"deficiencia de adhesión leucocitaria tipo i","Spanish_GARD_Synonym__c":"lad-i","Category_Linearization__c":"ORPHA:98004","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Leukocyte adhesion deficiency type 1 is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as viruses, bacteria, and fungi. Starting from birth, people with leukocyte adhesion deficiency type 1 develop serious bacterial and fungal infections. One of the first signs of leukocyte adhesion deficiency type 1 is a delay in the detachment of the umbilical cord stump after birth. In newborns, the stump normally falls off within the first two weeks of life; but, in infants with leukocyte adhesion deficiency type 1, this separation usually occurs at three weeks or later. In addition, affected infants often have inflammation of the umbilical cord stump (omphalitis) due to a bacterial infection. In leukocyte adhesion deficiency type 1, bacterial and fungal infections most commonly occur on the skin and mucous membranes such as the moist lining of the nose and mouth. In childhood, people with this condition develop severe inflammation of the gums (gingivitis) and other tissue around the teeth (periodontitis), which often results in the loss of both primary and permanent teeth. These infections often spread to cover a large area. A hallmark of leukocyte adhesion deficiency type 1 is the lack of pus formation at the sites of infection. In people with this condition, wounds are slow to heal, which can lead to additional infection. Life expectancy in individuals with leukocyte adhesion deficiency type 1 is often severely shortened. Due to repeat infections, affected individuals may not survive past infancy.","Curated_Disease_Description_Source__c":"MONDO:0007293","GARD_Synonym__c":"itgb2 leukocyte adhesion deficiency; lad - leukocyte adhesion deficiency type 1; lad 1; lad-i; lad-type i; lad1; leukocyte adhesion deficiency - type 1; leukocyte adhesion deficiency caused by mutation in itgb2; leukocyte adhesion deficiency type 1; leukocyte adhesion deficiency type i; leukocyte adhesion deficiency, type i; leukocyte adhesion molecule deficiency - type 1; lfa 1 immunodeficiency; lfa-1 deficiency; lfa-i deficiency; lfa1 immunodeficiency; lymphocyte function-associated antigen 1 immunodeficiency; mo-1 deficiency","Name":"Leukocyte adhesion deficiency 1","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:99842"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:99842"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0398738"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006893","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=234582006","Source__c":"C0398738; MONDO:0007293","Xref__c":"234582006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=98310","Source__c":"C0398738","Xref__c":"MEDGEN:98310"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110910","Source__c":"MONDO:0007293","Xref__c":"DOID:0110910"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398738","Source__c":"C0398738","Xref__c":"C0398738"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4689","Source__c":"C0398738; MONDO:0007293","Xref__c":"C4689"},{"URL__c":"https://www.omim.org/entry/116920","Source__c":"C0398738; MONDO:0007293; ORPHA:99842","Xref__c":"OMIM:116920"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C535887","Source__c":"MONDO:0007293","Xref__c":"C535887"},{"URL__c":"https://www.orpha.net/en/disease/detail/99842","Source__c":"C0398738; MONDO:0007293; ORPHA:99842","Xref__c":"ORPHA:99842"},{"URL__c":"https://medlineplus.gov/genetics/condition/leukocyte-adhesion-deficiency-type-1","Source__c":"GARD:0006893","Xref__c":"https://medlineplus.gov/genetics/condition/leukocyte-adhesion-deficiency-type-1"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0007293","Source__c":"GARD:0006893","Xref__c":"MONDO:0007293"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ITGB2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/itgb2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Osteomyelitis is an inflammatory process accompanied by bone destruction and caused by an infecting microorganism.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002754","HPO_Synonym__c":"Bone infection","HPO_Name__c":"Osteomyelitis","Feature_System__c":"Musculoskeletal System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal elevation of the C-reactive protein level in the blood circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011227","HPO_Synonym__c":"Elevated C-reactive protein level","HPO_Name__c":"Elevated circulating C-reactive protein concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:116920","Feature__r":{"HPO_Description__c":"Inflammation of the periodontium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000704","HPO_Synonym__c":"Pyorrhea","HPO_Name__c":"Periodontitis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Separation of the umbilical cord occurs at an abnormally late timepoint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032434","HPO_Synonym__c":"Delayed separation of umbilical cord","HPO_Name__c":"Delayed umbilical cord separation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002728","HPO_Synonym__c":"Chronic candidiasis of mucosa, skin and nails; Mucocutaneous candidiasis","HPO_Name__c":"Chronic mucocutaneous candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An infection of the umbilicus and/or surrounding tissues occurring in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032435","HPO_Synonym__c":"Omphalitis; Umbilical cord stump infection","HPO_Name__c":"Neonatal omphalitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","Feature__r":{"HPO_Description__c":"Increased susceptibility to infection by gram-negative bacteria, as manifested by a medical history of repeated or frequent infections by these agents.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005420","HPO_Name__c":"Recurrent gram-negative bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of the gingiva.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000230","HPO_Synonym__c":"Gingival inflammation; Inflamed gums; Red and swollen gums","HPO_Name__c":"Gingivitis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","Feature__r":{"HPO_Description__c":"Increased susceptibility to staphylococcal infections, as manifested by recurrent episodes of staphylococcal infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007499","HPO_Synonym__c":"Recurrent staphylococcal infections","HPO_Name__c":"Recurrent staphylococcal infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal increase in the number of leukocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001974","HPO_Synonym__c":"Elevated white blood count; High white blood count; Increased blood leukocyte number; Leukocytosis","HPO_Name__c":"Increased total leukocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections, as manifested by recurrent episodes of bacterial infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002718","HPO_Synonym__c":"Bacterial infections, recurrent; Frequent bacterial infections; Frequent pyogenic infections; Increased susceptibility to bacterial infections; Recurrent bacterial infections; Recurrent major bacterial infections; Recurrent pyogenic infections; Susceptibility to pyogenic infection","HPO_Name__c":"Recurrent bacterial infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","Feature__r":{"HPO_Description__c":"A reduced ability to heal cutaneous wounds.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001058","HPO_Synonym__c":"Poor wound healing","HPO_Name__c":"Poor wound healing","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A discontinuity of the skin exhibiting complete loss of the epidermis and often portions of the dermis and even subcutaneous fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200042","HPO_Synonym__c":"Open skin sore","HPO_Name__c":"Skin ulcer","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased concentration of fibrinogen in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011899","HPO_Name__c":"Hyperfibrinogenemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","Feature__r":{"HPO_Description__c":"A collection of pus in the area of the rectum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005224","HPO_Synonym__c":"Perirectal abscess","HPO_Name__c":"Rectal abscess","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:116920","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002028","HPO_Synonym__c":"Chronic diarrhea","HPO_Name__c":"Chronic diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Ophthalmology","Immunology","Neuro-Ophthalmology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["itgb2 leukocyte adhesion deficiency"," lad - leukocyte adhesion deficiency type 1"," lad 1"," lad-i"," lad-type i"," lad1"," leukocyte adhesion deficiency - type 1"," leukocyte adhesion deficiency caused by mutation in itgb2"," leukocyte adhesion deficiency type 1"," leukocyte adhesion deficiency type i"," leukocyte adhesion deficiency, type i"," leukocyte adhesion molecule deficiency - type 1"," lfa 1 immunodeficiency"," lfa-1 deficiency"," lfa-i deficiency"," lfa1 immunodeficiency"," lymphocyte function-associated antigen 1 immunodeficiency"," mo-1 deficiency"]}