- Peritonitis (HP:0002586): Inflammation of the peritoneum. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Recurrent lower respiratory tract infections (HP:0002783): An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections. Evidence: PCS. Frequency: 2/2. (PMID:39579173)
- Atrophic gastritis (HP:0002582): Atrophic gastritis (AG) is a histopathological entity that is characterized by chronic inflammation of the gastric mucosa with loss of gastric glandular cells and replacement by intestinal-type epithelium, pyloric-type glands, and fibrous tissue. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Lupus anticoagulant (HP:0025343): Presence of lupus anticoagulant (LA) autoantibodies. LA represent a heterogeneous group of autoantibodies, IgG, IgM, or a mixture of both classes, that interfere with standard phospholipid-based coagulant tests (this is only an in vitro phenomenon, LA do not cause reduction of coagulation in vivo). The antibodies are directed against plasma proteins which also bind to phospholipid surfaces. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Anti-La/SS-B antibody positivity (HP:0032235): The presence of autoantibodies in the blood circulation that react against La/SSB autoantigens. Evidence: PCS. Frequency: 2/9. (PMID:35960817)
- Increased size of nasopharyngeal adenoids (HP:0040261): An abnormal increase in the size of nasopharyngeal adenoids. Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Enlarged tonsils (HP:0030812): Increase in size of the tonsils, small collections of lymphoid tissue facing into the aerodigestive tract on either side of the back part of the throat. Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Mediastinal lymphadenopathy (HP:0100721): Swelling of lymph nodes within the mediastinum, the central compartment of the thoracic cavities that contains the heart and the great vessels, the esophagus, and trachea and other structures including lymph nodes. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 11/12. (PMID:39579173;PMID:35960817)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Anti-thyroid-stimulating hormone receptor antibody positivity (HP:0034189): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid-stimulating hormone. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Decreased total lymphocyte count (HP:0001888): A reduced number of lymphocytes in the blood. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Pyoderma (HP:0000999): Any manifestation of a skin disease associated with the production of pus. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Recurrent sinopulmonary infections (HP:0005425): An increased susceptibility to infections involving both the paranasal sinuses and the lungs, as manifested by a history of recurrent sinopulmonary infections. Evidence: PCS. Frequency: 7/9. (PMID:35960817)
- Anti-thyroid peroxidase antibody positivity (HP:0025379): The presence of autoantibodies (immunoglobulins) in the serum that react against thyroid peroxidase. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 7/10. (PMID:39579173;PMID:35960817)
- Ileitis (HP:0032564): Inflammation of the ileum. Evidence: PCS. Frequency: 2/2. (PMID:39579173)
- Pancolitis (HP:0033256): Inflammation of the entire colon. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Follicular bronchiolitis (HP:0033583): Follicular bronchiolitis is a polyclonal hyperplasia of bronchiolar associated lymphoid tissue characterized by the is characterized by the development of lymphoid follicles with germinal centers in walls of the small airways. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Inguinal lymphadenopathy (HP:0034751): Enlarged lymph node located in the inguinal region (groin). Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Anti-beta-2-Glycoprotein I IgG antibody positivity (HP:0034156): Presence of IgG antibodies against beta 2 glycoprotein I in the circulation. Beta-2 glycoprotein I (beta2GPI) is the principal target of autoantibodies in the antiphospholipid syndrome. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 6/10. (PMID:39579173;PMID:35960817)
- Sinusitis (HP:0000246): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 7/9. (PMID:35960817)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:35960817)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Lymphadenitis (HP:0002840): Inflammation of a lymph node. Evidence: PCS. Frequency: 3/9. (PMID:35960817)
- Decreased specific antibody response to unconjugated polysaccharide vaccine (HP:0410299): A reduced ability to synthesize postvaccination antibodies against unconjugated polysaccharides in vaccines, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 6/6. (PMID:39579173;PMID:35960817)
- Increased circulating IgE concentration (HP:0003212): An abnormally increased overall level of immunoglobulin E in blood. Evidence: PCS. Frequency: 1/5. (PMID:35960817)
- Lymphoid hyperplasia (HP:0034839): An abnormal bone marrow finding characterized by many poorly circumscribed and occasionally confluent lymphoid nodules. The nodules contain small and uniform lymphocytes with rounded nuclei, clumped chromatin, and without prominent nucleoli. Evidence: PCS. Frequency: 3/3. (PMID:39579173;PMID:35960817)
- Increased circulating IgM concentration (HP:0003496): An abnormally increased level of immunoglobulin M in blood. Evidence: PCS. Frequency: 4/9. (PMID:35960817)
- Cervical lymphadenopathy (HP:0025289): Enlarged lymph nodes in the neck. Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295): The inability to synthesize postvaccination antibodies against a tetanus antigen, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 0/4. (PMID:35960817)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Decreased specific antibody response to protein vaccine (HP:0410294): A reduced ability to synthesize postvaccination antibodies against proteins in vaccines, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Nontuberculous mycobacterial pulmonary infection (HP:0032261): An infection of the lung caused by environmental mycobacteria. Such infections can occur in individuals with predisposing lung disease or immune disease. Evidence: PCS. Frequency: 2/9. (PMID:35960817)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 2/2. (PMID:39579173;PMID:35960817)
- Abnormal pulmonary interstitial morphology (HP:0006530): Abnormality of the lung parenchyma extending to the pulmonary interstitium and leading to diffuse pulmonary fibrosis. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 6/6. (PMID:39579173;PMID:35960817)
- Vasculitis (HP:0002633): Inflammation of blood vessel. Evidence: PCS. Frequency: 2/2. (PMID:35960817)
- Drug allergy (HP:0410323): Hypersensitivity in form of an adverse immune reaction against drugs. Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Decreased circulating immunoglobulin concentration (HP:0004313): An abnormally decreased level of immunoglobulin in blood. Evidence: PCS. Frequency: 2/2. (PMID:39579173)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 1/3. (PMID:39579173)
- Atopic dermatitis (HP:0001047): Atopic dermatitis (AD) or atopic eczema is an itchy, inflammatory skin condition with a predilection for the skin flexures. It is characterized by poorly defined erythema with edema, vesicles, and weeping in the acute stage and skin thickening (lichenification) in the chronic stage. Evidence: PCS. Frequency: 3/3. (PMID:35960817)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 2/9. (PMID:35960817)
- Anti-Ro/SS-A antibody positivity (HP:0033555): The presence of autoantibodies in the blood circulation that react against Ro/SSA autoantigens. Evidence: PCS. Frequency: 3/9. (PMID:35960817)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
- Anti-myeloperoxidase antibody positivity (HP:0033559): The presence of autoantibodies in the blood circulation that react against myeloperoxidase. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Anti-tissue transglutaminase antibody positivity (HP:0033563): The presence of autoantibodies (immunoglobulins) in the serum that react against tissue transglutaminase. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Celiac disease (HP:0002608): Celiac disease (CD) is an autoimmune condition affecting the small intestine, triggered by the ingestion of gluten, the protein fraction of wheat, barley, and rye. Clinical manifestations of CD are highly variable and include both gastrointestinal and non-gastrointestinal features. The hallmark of CD is an immune-mediated enteropathy. This term is included because the occurrence of CD is seen as a feature of a number of other diseases. Evidence: PCS. Frequency: 1/1. (PMID:35960817)
- Anticardiolipin IgG antibody positivity (HP:0020136): The presence of circulating IgG autoantibodies to cardiolipin. Evidence: PCS. Frequency: 1/9. (PMID:35960817)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 1/1. (PMID:39579173)
These phenotypes are associated with the disease immunodeficiency 132b (OMIM:621096).