{"Name":"T-cell immunodeficiency, congenital alopecia, and nail dystrophy","DiseaseID__c":"GARD:0004358","id":4358,"encodedName":"t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy","IsDeleted":false,"Disease_Name_Full__c":"T-cell immunodeficiency, congenital alopecia, and nail dystrophy","Xref_IDs__c":"720345008; C1866426; C536781; DOID:0060769; MEDGEN:355713; MONDO:0011132; OMIM:601705; ORPHA:169095","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":"1 to 8,000","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:0011132","Disease_Description__c":"A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has material basis in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12.","GARD_Name__c":"T-cell immunodeficiency, congenital alopecia, and nail dystrophy","GARD_Synonym__c":"alopecia and t-cell immunodeficiency; alopecia immunodeficiency; alymphoid cystic thymic dysgenesis; congenital alopecia and nail dystrophy associated with severe functional t-cell immunodeficiency; congenital alopecia and nail dystrophy with severe functional t-cell immunodeficiency; foxn1 deficiency; nude/scid; nude/severe combined immunodeficiency; pignata guarino syndrome; scid due to foxn1 deficiency; severe combined immunodeficiency due to foxn1 deficiency; severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome; winged helix deficiency","Curated_Disease_Description_Source__c":"MONDO:0011132","Curated_Disease_Description__c":"T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood. T-cell immunodeficiency, congenital alopecia, and nail dystrophy  also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved. Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:169095","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011132","ORPHANET_ID__c":"ORPHA:169095","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave por deficiencia de foxn1","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"inmunodeficiencia combinada grave por deficiencia de foxn1","Spanish_GARD_Synonym__c":"deficiencia de la hélice alada; disgenesia quística alinfoide del timo; idcg por deficiencia de foxn1; idcg/linfocito desnudo; inmunodeficiencia combinada grave/linfocito desnudo; nude/scid; scid por deficiencia de foxn1; síndrome de inmunodeficiencia grave de linfocitos t-alopecia congénita-distrofia ungueal","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":"T-cell immunodeficiency, congenital alopecia, and nail dystrophy is a type of severe combined immunodeficiency (SCID), which is a group of disorders characterized by an almost total lack of immune protection from foreign invaders such as bacteria and viruses. People with this form of SCID are missing functional immune cells called T cells, which normally recognize and attack foreign invaders to prevent infection. Without functional T cells, affected individuals develop repeated and persistent infections starting early in life. The infections result in slow growth and can be life-threatening; without effective treatment, most affected individuals live only into infancy or early childhood. T-cell immunodeficiency, congenital alopecia, and nail dystrophy  also affects growth of the hair and nails. Congenital alopecia refers to an absence of hair that is apparent from birth. Affected individuals have no scalp hair, eyebrows, or eyelashes. Nail dystrophy is a general term that describes malformed fingernails and toenails; in this condition, the nails are often ridged, pitted, or abnormally curved. Researchers have described abnormalities of the brain and spinal cord (central nervous system) in at least two cases of this condition. However, it is not yet known whether central nervous system abnormalities are a common feature of T-cell immunodeficiency, congenital alopecia, and nail dystrophy.","Curated_Disease_Description_Source__c":"MONDO:0011132","GARD_Synonym__c":"alopecia and t-cell immunodeficiency; alopecia immunodeficiency; alymphoid cystic thymic dysgenesis; congenital alopecia and nail dystrophy associated with severe functional t-cell immunodeficiency; congenital alopecia and nail dystrophy with severe functional t-cell immunodeficiency; foxn1 deficiency; nude/scid; nude/severe combined immunodeficiency; pignata guarino syndrome; scid due to foxn1 deficiency; severe combined immunodeficiency due to foxn1 deficiency; severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome; severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome; winged helix deficiency","Name":"T-cell immunodeficiency, congenital alopecia, and nail dystrophy","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"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":"Immunology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Primary Immune Deficiencies","Tag_Category__c":"Account","curated_tag_name":"Primary immunodeficiency"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:169095"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:169095"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1866426"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004358","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1866426","Source__c":"C1866426","Xref__c":"C1866426"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=720345008","Source__c":"C1866426; MONDO:0011132","Xref__c":"720345008"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060769","Source__c":"MONDO:0011132","Xref__c":"DOID:0060769"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355713","Source__c":"C1866426","Xref__c":"MEDGEN:355713"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536781","Source__c":"MONDO:0011132","Xref__c":"C536781"},{"URL__c":"https://www.omim.org/entry/601705","Source__c":"C1866426; MONDO:0011132; ORPHA:169095","Xref__c":"OMIM:601705"},{"URL__c":"https://www.orpha.net/en/disease/detail/169095","Source__c":"C1866426; MONDO:0011132; ORPHA:169095","Xref__c":"ORPHA:169095"},{"URL__c":"https://medlineplus.gov/genetics/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy","Source__c":"GARD:0004358","Xref__c":"https://medlineplus.gov/genetics/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011132","Source__c":"GARD:0004358","Xref__c":"MONDO:0011132"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"FOXN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/foxn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:169095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute number of T cells per volume is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005403","HPO_Synonym__c":"Decrease in T cell count; Decrease in T cell number; Decreased numbers of circulating T cells; Low T cell count; Reduced number of T cells; T cell lymphopenia; T lymphocytopenia","HPO_Name__c":"Decreased total T cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Loss of all scalp hair with congenital onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005597","HPO_Name__c":"Congenital alopecia totalis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Longitudinal, linear prominences in the nail plate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001807","HPO_Synonym__c":"Grooved nails; Longitudinal ridging; Nail ridging","HPO_Name__c":"Ridged nail","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002721","HPO_Synonym__c":"Decreased immune function; Immune deficiency","HPO_Name__c":"Immunodeficiency","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:169095","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Small (typically about 1 mm or less in size) depressions on the dorsal nail surface.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001803","HPO_Synonym__c":"Nail pits; Nail pitting; Pitted nails","HPO_Name__c":"Nail pits","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["alopecia and t-cell immunodeficiency"," alopecia immunodeficiency"," alymphoid cystic thymic dysgenesis"," congenital alopecia and nail dystrophy associated with severe functional t-cell immunodeficiency"," congenital alopecia and nail dystrophy with severe functional t-cell immunodeficiency"," foxn1 deficiency"," nude/scid"," nude/severe combined immunodeficiency"," pignata guarino syndrome"," scid due to foxn1 deficiency"," severe combined immunodeficiency due to foxn1 deficiency"," severe t-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome"," severe t-cell immunodeficiency, congenital alopecia, nail dystrophy syndrome"," winged helix deficiency"]}