{"Name":"X-linked severe combined immunodeficiency","DiseaseID__c":"GARD:0005618","id":5618,"encodedName":"x-linked-severe-combined-immunodeficiency","IsDeleted":false,"Disease_Name_Full__c":"X-linked severe combined immunodeficiency","Xref_IDs__c":"203592006; C1279481; C4682; DOID:0060013; MEDGEN:220906; MONDO:0010315; NBK1410; OMIM:300400; ORPHA:276","USA_Estimate__c":"50,000","No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":1,"World_Estimate__c":"80,000 to 800,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":3,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010315","Disease_Description__c":"Severe combined immunodeficiency (SCID) due to gamma chain deficiency, also called SCID-X1, is a form of SCID (see this term) characterized by severe and recurrent infections, associated with diarrhea and failure to thrive.","GARD_Name__c":"X-linked severe combined immunodeficiency","GARD_Synonym__c":"immunodeficiency 4; scid-x1; scid, x-linked; scidx1; severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative; severe combined immunodeficiency, x-linked, x-linked recessive; t-b+ scid due to gamma chain deficiency; t-b+ severe combined immunodeficiency due to gamma chain deficiency; t-b+ severe combined immunodeficiency, x-linked; thymic epithelial hypoplasia; x-linked combined immunodeficiency diseases; xscid","Curated_Disease_Description_Source__c":"GARD:0005618","Curated_Disease_Description__c":"X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi.  If untreated, infants with X-linked SCID can develop poor growth, chronic diarrhea, a fungal infection called thrush, skin rashes, and life-threatening infections. X-linked SCID can be detected shortly after birth by newborn screening, which allows for prompt treatment.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"50,000","Age_at_Onset_Snippet_Text__c":"as a Newborn","SourceID__c":"ORPHA:276","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010315","ORPHANET_ID__c":"ORPHA:276","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Inmunodeficiencia combinada grave t-b+ por deficiencia de cadena gamma","Spanish_Description_Source__c":"ORPHA:276","Spanish_Description__c":"La inmunodeficiencia combinada grave (IDCG) por déficit de cadena gamma, también denominada IDCG X1, es una forma de IDCG (consulte este término) caracterizada por infecciones graves y recurrentes, asociadas a diarrea y retraso en el crecimiento.","Spanish_Disease_Name__c":"inmunodeficiencia combinada grave t-b+ por deficiencia de cadena gamma","Spanish_GARD_Synonym__c":"idcg t-b+ por deficiencia de cadena gamma; inmunodeficiencia combinada grave t-b+ ligada al cromosoma x; scid t-b+ por deficiencia de cadena gamma; scidx1","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":"X-linked severe combined immunodeficiency (SCID) is an inherited disorder of the immune system that occurs almost exclusively in males. Children with X-linked SCID are prone to recurrent and persistent infections because they lack the necessary immune cells to fight off certain bacteria, viruses, and fungi.  If untreated, infants with X-linked SCID can develop poor growth, chronic diarrhea, a fungal infection called thrush, skin rashes, and life-threatening infections. X-linked SCID can be detected shortly after birth by newborn screening, which allows for prompt treatment.","Curated_Disease_Description_Source__c":"GARD:0005618","GARD_Synonym__c":"immunodeficiency 4; scid-x1; scid, x-linked; scidx1; severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative; severe combined immunodeficiency, x-linked, x-linked recessive; t-b+ scid due to gamma chain deficiency; t-b+ severe combined immunodeficiency due to gamma chain deficiency; t-b+ severe combined immunodeficiency, x-linked; thymic epithelial hypoplasia; x-linked combined immunodeficiency diseases; xscid","Name":"X-linked severe combined immunodeficiency","Curated_USA_Estimate__c":"50,000","estimateUsa":"50,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Immunodeficiency UK","Website__c":"https://www.immunodeficiencyuk.org/"},{"Account_Name__c":"Jeffrey Modell Foundation","Website__c":"https://www.info4pi.org/"},{"Account_Name__c":"United States Immunodeficiency Network","Website__c":"https://www.usidnet.org"},{"Account_Name__c":"Canadian Immunodeficiencies Patient Organization","Website__c":"http://www.cipo.ca/"},{"Account_Name__c":"Immune Deficiencies Foundation Australia","Website__c":"http://www.idfa.org.au/"}],"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":"Neonatal","Provided_By__c":"ORPHA:276"}],"Diagnosis__c":[{"Type__c":"NEWBORN","Category__c":"Core","Curie__c":"http://newbornscreeningcodes.nlm.nih.gov/nb/sc/condition/SCID"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005618","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1410","Source__c":"Gene Review","Xref__c":"NBK1410"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C4682","Source__c":"C1279481; MONDO:0010315","Xref__c":"C4682"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=220906","Source__c":"C1279481","Xref__c":"MEDGEN:220906"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1279481","Source__c":"C1279481","Xref__c":"C1279481"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=203592006","Source__c":"MONDO:0010315","Xref__c":"203592006"},{"URL__c":"https://www.orpha.net/en/disease/detail/276","Source__c":"C1279481; MONDO:0010315","Xref__c":"ORPHA:276"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060013","Source__c":"MONDO:0010315","Xref__c":"DOID:0060013"},{"URL__c":"https://www.omim.org/entry/300400","Source__c":"C1279481; MONDO:0010315; ORPHA:276","Xref__c":"OMIM:300400"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010315","Source__c":"GARD:0005618","Xref__c":"MONDO:0010315"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-severe-combined-immunodeficiency","Source__c":"GARD:0005618","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-severe-combined-immunodeficiency"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053632","Source__c":"C1279481","Xref__c":"D053632"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IL2RG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/il2rg","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A red eruption of the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000988","HPO_Synonym__c":"Skin rash","HPO_Name__c":"Skin rash","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002665","HPO_Synonym__c":"Cancer of lymphatic system","HPO_Name__c":"Lymphoma","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005428","HPO_Name__c":"Severe recurrent varicella","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of T cell proliferation in response to mitogenic stimuli. This is commonly measured through intracellular expression of Ki67, decreasing surface expression of carboxyfluorescein diacetate (CFSE), or 3H-thymidine incorporation. Length of incubation, specific stimulus and strength of stimulation may vary between laboratories.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031381","HPO_Synonym__c":"Decreased lymphocyte proliferation in response to mitogen; Reduced lymphocyte proliferation to mitogen","HPO_Name__c":"Decreased mitogen-induced T-cell proliferation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Abnormally increased size of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002240","HPO_Synonym__c":"Enlarged liver","HPO_Name__c":"Hepatomegaly","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","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":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Chronic accumulation and overgrowth of the fungus Candida albicans on the mucous membranes of the mouth, generally manifested as associated with creamy white lesions on the tongue or inner cheeks, occasionally spreading to the gums, tonsils, palate or oropharynx.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009098","HPO_Synonym__c":"Chronic oral thrush","HPO_Name__c":"Chronic oral candidiasis","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000952","HPO_Synonym__c":"Icterus; Jaundice; Yellow skin; Yellowing of the skin","HPO_Name__c":"Jaundice","Feature_System__c":"Skin System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to bacterial infections of the skin, as manifested by recurrent episodes of infectious dermatitis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005406","HPO_Synonym__c":"Recurrent bacterial skin infections; Recurrent cutaneous pyogenic infections; Recurrent episodes of impetigo; Recurrent episodes of infectious dermatitis; Recurrent pyogenic skin infections","HPO_Name__c":"Recurrent bacterial skin infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001508","HPO_Synonym__c":"Faltering weight; FTT; Postnatal failure to thrive; Weight faltering","HPO_Name__c":"Failure to thrive","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin G in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003237","HPO_Synonym__c":"Increased circulating IgG level; Increased IgG level; Increased levels of IgG; Increased total IgG in blood","HPO_Name__c":"Increased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to Haemophilus influenzae infections as manifested by recurrent episodes of infection by Haemophilus influenzae.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005376","HPO_Synonym__c":"Recurrent H. influenzae infections","HPO_Name__c":"Recurrent Haemophilus influenzae infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Decreased levels of immunoglobulin A (IgA).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002720","HPO_Synonym__c":"Decreased circulating IgA level; Decreased IgA; Decreased immunoglobulin A; Gamma-A globulin deficiency; IgA deficiency; Low levels of immunoglobulin A; Reduced IgA levels","HPO_Name__c":"Decreased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005523","HPO_Name__c":"Lymphoproliferative disorder","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally decreased proportion of naive T cells relative to the total number of T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031397","HPO_Synonym__c":"Decreased proportion of naive T cells; Decreased proportion of naive thymus-derived, alpha-beta T cells; Reduced proportion of naive T cells","HPO_Name__c":"Decreased naive T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Inflammation of any part of the lung parenchyma.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002090","HPO_Synonym__c":"Pneumonia","HPO_Name__c":"Pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002014","HPO_Synonym__c":"Diarrhea; Watery stool","HPO_Name__c":"Diarrhea","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100806","HPO_Synonym__c":"Infection in blood stream","HPO_Name__c":"Sepsis","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012735","HPO_Synonym__c":"Cough; Coughing","HPO_Name__c":"Cough","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the lymph nodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002732","HPO_Name__c":"Lymph node hypoplasia","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin G (IgG) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004315","HPO_Synonym__c":"Decreased circulating IgG level; Decreased gamma-globin expression; Decreased IgG level; Decreased IgG level in blood; Decreased immunoglobulin G; Decreased serum IgG; IgG deficiency; Reduced IgG levels","HPO_Name__c":"Decreased circulating IgG concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to cutaneous fungal infections, as manifested by recurrent episodes of cutaneous fungal infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011370","HPO_Name__c":"Recurrent cutaneous fungal infections","Feature_System__c":"Skin System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced number of lymphocytes in the blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001888","HPO_Synonym__c":"Absolute lymphocyte count decrease; Decreased blood lymphocyte number; Low lymphocyte number; Lymphocytopenia; Lymphopenia","HPO_Name__c":"Decreased total lymphocyte count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced level of T cell receptor excision circle (TRECs) as measured by the TREC assay. Late in maturation, 70% of thymocytes that will ultimately express alpha/beta-T cell receptors form a circular DNA TREC from the excised TCRdelta gene that lies within the TCRalpha genetic locus. The circles are stable but do not increase following cell division and, therefore, become diluted as T cells proliferate. A quantitative polymerase chain reaction (PCR) reaction across the joint of the circular DNA provides the TREC copy number, a marker of newly-formed, antigenically-naïve thymic emigrant T cells.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031545","HPO_Name__c":"Abnormally low T cell receptor excision circle level","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to opportunistic infections, as manifested by recurrent episodes of infection by opportunistic agents, i.e., by microorganisms that do not usually cause disease in a healthy host, but are able to infect a host with a compromised immune system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005390","HPO_Synonym__c":"Frequent opportunistic infections","HPO_Name__c":"Recurrent opportunistic infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The absolute count of natural killer cells in the blood, per microlitre, is below the lower limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0040218","HPO_Synonym__c":"Reduced natural killer cell number; Reduced NK cell number","HPO_Name__c":"Reduced total natural killer cell count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal deviation from normal levels of immunoglobulins in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010701","HPO_Synonym__c":"Abnormal immunoglobulin concentration; Abnormal immunoglobulin level; Abnormal serum immunoglobulin concentration; Abnormal serum immunoglobulin levels; Abnormal serum level of immunoglobulin; Immunoglobulin abnormality","HPO_Name__c":"Abnormal circulating immunoglobulin concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Periodic (episodic or recurrent) bouts of fever.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001954","HPO_Synonym__c":"Episodic fever; Hyperthermia, episodic; Increased body temperature, episodic; Intermittent fever","HPO_Name__c":"Recurrent fever","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005353","HPO_Synonym__c":"Susceptibility to herpesvirus","HPO_Name__c":"Recurrent herpes","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Lack of observable tonsillar tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030813","HPO_Synonym__c":"Hypoplastic tonsils; Tonsillar hypoplasia","HPO_Name__c":"Absent tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of helper CD3+CD4+ T cells, measured as percentage of total CD3+ T cells in the blood, compared to a reference range for a given sex and age-group. These are usually measured within the TCR alpha/beta positive population.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032218","HPO_Synonym__c":"CD4 T cell lymphopenia; Decreased helper T cell proportion; Decreased proportion circulating T-helper cells; Decreased proportion of CD4+ cells; Decreased proportion of CD4+ T cells; Decreased proportion of CD4-positive helper T cells; Decreased proportion of CD4-positive T cells; Decreased proportion of CD4-positive, alpha-beta T cells; Reduced helper T cell proportion; Reduced proportion of CD4-positive cells","HPO_Name__c":"Decreased CD4+ T cell proportion","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:276","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology","Pediatrics"],"Account":["Primary Immune Deficiencies"]},"synonyms":["immunodeficiency 4"," scid-x1"," scid, x-linked"," scidx1"," severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative"," severe combined immunodeficiency, x-linked, x-linked recessive"," t-b+ scid due to gamma chain deficiency"," t-b+ severe combined immunodeficiency due to gamma chain deficiency"," t-b+ severe combined immunodeficiency, x-linked"," thymic epithelial hypoplasia"," x-linked combined immunodeficiency diseases"," xscid"]}