{"Name":"Hyper-IgM syndrome type 1","DiseaseID__c":"GARD:0000073","id":73,"encodedName":"hyper-igm-syndrome-type-1","IsDeleted":false,"Disease_Name_Full__c":"Hyper-IgM syndrome type 1","Xref_IDs__c":"403835002; C0398689; C158531; C61244; DOID:0060022; DOID:6620; MEDGEN:96019; MONDO:0010626; OMIM:308230; ORPHA:101088","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":1,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010626","Disease_Description__c":"The X-linked variant of the Hyper-IgM syndrome. The affected individuals are virtually always male, because males only have one X chromosome, received from their mothers. Their mothers are not symptomatic, even though they are carriers of the allele, because the trait is recessive. Male offspring of these women have a 50% chance of inheriting their mother's mutant allele.","GARD_Name__c":"Hyper-IgM syndrome type 1","GARD_Synonym__c":"higm1; higmx-1; hyper igm syndromes; hyper-igm immunodeficiency syndrome, type 1; hyper-igm syndrome due to cd40 ligand deficiency; hyper-igm syndrome due to cd40l deficiency; hyper-igm syndrome, x-linked; immunodeficiency, x-linked, with hyper-igm; immunodeficiency, x-linked, with hyper-igm, x-linked recessive; x-linked hyper-igm syndrome; x-linked hyper-immunoglobulin m syndrome; x-linked with hyper-igm immunodeficiency; xhigm","Curated_Disease_Description_Source__c":"GARD:0000073","Curated_Disease_Description__c":"X-linked hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections. Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. Common infections include pneumonia, sinus infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (central nervous system) infections, liver disease, and gastrointestinal tumors. They also have an increased risk of lymphoma, which is a cancer of immune system cells. The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. Without treatment, this condition can result in death during childhood or adolescence.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"ORPHA:101088","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010626","ORPHANET_ID__c":"ORPHA:101088","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de hiper-igm ligado al cromosoma x","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de hiper-igm ligado al cromosoma x","Spanish_GARD_Synonym__c":"higm1; síndrome de hiper-igm por deficiencia de cd40l; síndrome de hiper-igm por deficiencia del ligando de cd40; síndrome de hiper-igm tipo 1; xhigm","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 hyper IgM syndrome is a condition that affects the immune system and occurs almost exclusively in males. People with this disorder have abnormal levels of proteins called antibodies or immunoglobulins. Antibodies help protect the body against infection by attaching to specific foreign particles and germs, marking them for destruction. There are several classes of antibodies, and each one has a different function in the immune system. Although the name of this condition implies that affected individuals always have high levels of immunoglobulin M (IgM), some people have normal levels of this antibody. People with X-linked hyper IgM syndrome have low levels of three other classes of antibodies: immunoglobulin G (IgG), immunoglobulin A (IgA), and immunoglobulin E (IgE). The lack of certain antibody classes makes it difficult for people with this disorder to fight off infections. Individuals with X-linked hyper IgM syndrome begin to develop frequent infections in infancy and early childhood. Common infections include pneumonia, sinus infections (sinusitis), and ear infections (otitis). Infections often cause these children to have chronic diarrhea and they fail to gain weight and grow at the expected rate (failure to thrive). Some people with X-linked hyper IgM syndrome have low levels of white blood cells called neutrophils (neutropenia). Affected individuals may develop autoimmune disorders, neurologic complications from brain and spinal cord (central nervous system) infections, liver disease, and gastrointestinal tumors. They also have an increased risk of lymphoma, which is a cancer of immune system cells. The severity of X-linked hyper IgM syndrome varies among affected individuals, even among members of the same family. Without treatment, this condition can result in death during childhood or adolescence.","Curated_Disease_Description_Source__c":"GARD:0000073","GARD_Synonym__c":"higm1; higmx-1; hyper igm syndromes; hyper-igm immunodeficiency syndrome, type 1; hyper-igm syndrome due to cd40 ligand deficiency; hyper-igm syndrome due to cd40l deficiency; hyper-igm syndrome, x-linked; immunodeficiency, x-linked, with hyper-igm; immunodeficiency, x-linked, with hyper-igm, x-linked recessive; x-linked hyper-igm syndrome; x-linked hyper-immunoglobulin m syndrome; x-linked with hyper-igm immunodeficiency; xhigm","Name":"Hyper-IgM syndrome type 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Hyper IgM Foundation","Website__c":"https://hyperigm.org/"},{"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":"Immune Deficiency Foundation","Website__c":"https://www.primaryimmune.org/"},{"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"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0398689"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000073","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1402","Source__c":"Gene Review","Xref__c":"NBK1402"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A6620","Source__c":"MONDO:0010626","Xref__c":"DOID:6620"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=96019","Source__c":"C0398689","Xref__c":"MEDGEN:96019"},{"URL__c":"https://www.omim.org/entry/308230","Source__c":"C0398689; MONDO:0010626; ORPHA:101088","Xref__c":"OMIM:308230"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=403835002","Source__c":"C0398689; MONDO:0010626","Xref__c":"403835002"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C61244","Source__c":"MONDO:0010626","Xref__c":"C61244"},{"URL__c":"https://www.orpha.net/en/disease/detail/101088","Source__c":"C0398689; MONDO:0010626; ORPHA:101088","Xref__c":"ORPHA:101088"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060022","Source__c":"MONDO:0010626","Xref__c":"DOID:0060022"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0398689","Source__c":"C0398689","Xref__c":"C0398689"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome","Source__c":"GARD:0000073","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-hyper-igm-syndrome"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C053307","Source__c":"C0398689","Xref__c":"D053307"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010626","Source__c":"GARD:0000073","Xref__c":"MONDO:0010626"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C158531","Source__c":"C0398689","Xref__c":"C158531"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CD40LG","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cd40lg","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cholangitis associated with evident ductal fibrosis that develops as a consequence of long-standing bile duct inflammatory, obstruction, or ischemic injury; it can be obliterative or nonobliterative.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030991","HPO_Synonym__c":"Fibrous cholangitis","HPO_Name__c":"Sclerosing cholangitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","Feature__r":{"HPO_Description__c":"An abnormally decreased level of immunoglobulin E (IgE) in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005479","HPO_Synonym__c":"Decreased circulating IgE; Decreased IgE; IgE deficiency","HPO_Name__c":"Decreased circulating IgE concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002783","HPO_Synonym__c":"Chronic lung infections; Lower respiratory tract infections; Recurrent chest infections","HPO_Name__c":"Recurrent lower respiratory tract infections","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Erosion of the mucous mebrane of the mouth with local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000155","HPO_Synonym__c":"Mouth ulcer; Oral mucosal ulceration","HPO_Name__c":"Oral ulcer","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","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":"OMIM:308230","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":"OMIM:308230","Feature__r":{"HPO_Description__c":"An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002959","HPO_Synonym__c":"Impaired B-lymphocyte isotype switching","HPO_Name__c":"Impaired Ig class switch recombination","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:308230","Feature__r":{"HPO_Description__c":"Absence of germinal centers in lymph nodes. Germinal centers are the parts of lymph nodes in which B lymphocytes proliferate, differentiate, mutate through somatic hypermutation and class switch during antibody responses.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002849","HPO_Synonym__c":"Lymph nodes lack germinal center; Lymphoid germinal center defect","HPO_Name__c":"Absence of lymph node germinal center","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001394","HPO_Synonym__c":"Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver","HPO_Name__c":"Cirrhosis","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:308230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inflammation of the brain related to infection by an enterovirus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034285","HPO_Name__c":"Enteroviral encephalitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the meninges.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001287","HPO_Name__c":"Meningitis","Feature_System__c":"Nervous System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","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:308230","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin M in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003496","HPO_Synonym__c":"Increased IgM levels; Increased levels of IgM","HPO_Name__c":"Increased circulating IgM level","Feature_System__c":"Immune System; 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Tonsillar hypertrophy; tonsils large/hypertrophy","HPO_Name__c":"Enlarged tonsils","Feature_System__c":"Cardiovascular System; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001875","HPO_Synonym__c":"Low blood neutrophil count; Low neutrophil count; Neutropenia; Peripheral neutropenia","HPO_Name__c":"Decreased total neutrophil count","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","Feature__r":{"HPO_Description__c":"Abnormal increased size of the spleen.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001744","HPO_Synonym__c":"Increased spleen size; Large spleen","HPO_Name__c":"Splenomegaly","Feature_System__c":"Cardiovascular System; 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Ankle clonus is tested by rapidly flexing the foot upward.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011448","HPO_Synonym__c":"Abnormal rhythmic movements of ankle","HPO_Name__c":"Ankle clonus","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","Feature__r":{"HPO_Description__c":"A type of anemia caused by premature destruction of red blood cells (hemolysis).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001878","HPO_Synonym__c":"Haemolytic anemia; Increased hemolysis","HPO_Name__c":"Hemolytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","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:308230","Feature__r":{"HPO_Description__c":"Selective deficiency of one or more, but not all, classes of immunoglobulins.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002961","HPO_Name__c":"Dysgammaglobulinemia","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:308230","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; 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Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","Feature__r":{"HPO_Description__c":"Impaired production of memory cells, the B cells that persist for years or an entire lifetime and which confer rapid and enhanced response to secondary challenge.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002847","HPO_Name__c":"Impaired memory B cell generation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormally increased level of immunoglobulin A in blood.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003261","HPO_Synonym__c":"Elevated IgA; Elevated serum IgA; IgA hypergammaglobulinemia; Increased circulating IgA level; Increased levels of IgA; Increased serum IgA","HPO_Name__c":"Increased circulating IgA concentration","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:308230","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":"OMIM:308230","Feature__r":{"HPO_Description__c":"Decreased or impaired activation of T cells in response to a mitogen, cytokine, chemokine, cellular ligand, or an antigen for which it is specific.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005419","HPO_Synonym__c":"Decreased T lymphocyte activation; Decreased T-cell activation; Decreased T-lymphocyte activation; Defective T cell activation; Profound depletion of T4+ lymphocytes","HPO_Name__c":"Decreased T cell activation","Feature_System__c":"Immune System; Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:308230","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inflammation of the liver.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012115","HPO_Synonym__c":"Liver inflammation","HPO_Name__c":"Hepatitis","Feature_System__c":"Immune System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:308230","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An opportunistic disease caused by invasion of unicellular fungus Pneumocystis jirovecii. Transmission of P. jirovecii cysts takes place through the airborne route, and usually, its presence in lungs is asymptomatic. However, people with impaired immunity, especially those with CD4+ T cell count below 200/microliter, are still at risk of the development of Pneumocystis pneumonia due to P. jirovecii invasion. Symptoms induced by this disease are not specific: progressive dyspnea, non-productive cough, low-grade fever, arterial partial pressure of oxygen below 65 mmHg, and chest radiographs demonstrating bilateral, interstitial shadowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020102","HPO_Synonym__c":"Pneumocystis carinii pneumonia","HPO_Name__c":"Pneumocystis jirovecii pneumonia","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics"],"Specialist":["Genetics","Immunology"],"Account":["Primary Immune Deficiencies"]},"synonyms":["higm1"," higmx-1"," hyper igm syndromes"," hyper-igm immunodeficiency syndrome, type 1"," hyper-igm syndrome due to cd40 ligand deficiency"," hyper-igm syndrome due to cd40l deficiency"," hyper-igm syndrome, x-linked"," immunodeficiency, x-linked, with hyper-igm"," immunodeficiency, x-linked, with hyper-igm, x-linked recessive"," x-linked hyper-igm syndrome"," x-linked hyper-immunoglobulin m syndrome"," x-linked with hyper-igm immunodeficiency"," xhigm"]}