- Chronic lung disease (HP:0006528): According to the definitions of the American and British Thoracic Societies, including pulmonary functional tests, X-rays, and CT scans for items such as fibrosis, bronchiectasis, bullae, emphysema, nodular or lymphomatous abnormalities. Evidence: PCS. Frequency: 3/5. (PMID:22608502)
- 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: 1/5. (PMID:22608502)
- Colitis (HP:0002583): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: PCS. Frequency: 1/5. (PMID:22608502)
- Autoimmune hemolytic anemia (HP:0001890): An autoimmune form of hemolytic anemia. Evidence: PCS. Frequency: 8/15. (PMID:22981790;PMID:22608502;PMID:26206937)
- Persistently decreased total neutrophil count (HP:0410252): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for 3 or more months. Evidence: PCS. Frequency: 1/1. (PMID:22981790)
- Type I diabetes mellitus (HP:0100651): A chronic condition in which the pancreas produces little or no insulin. Type I diabetes mellitus is manifested by the sudden onset of severe hyperglycemia with rapid progression to diabetic ketoacidosis unless treated with insulin. Evidence: PCS. Frequency: 3/9. (PMID:26206937)
- Decreased specific antibody response to vaccination (HP:0032140): A reduced ability to synthesize postvaccination antibodies against toxoids and polysaccharides in vaccines, as measured by antibody titer determination following vaccination. Evidence: PCS. Frequency: 6/8. (PMID:26206937)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/5. (PMID:22608502)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: PCS. Frequency: 1/1. (PMID:22981790)
- Thyroiditis (HP:0100646): Inflammation of the thyroid gland. Evidence: PCS. Frequency: 1/9. (PMID:26206937)
- Sepsis (HP:0100806): Sepsis is defined as life-threatening organ dysfunction caused by a dysregulated host response to infection. Evidence: PCS. Frequency: 1/1. (PMID:22981790)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 1/5. (PMID:22608502)
- Recurrent pneumonia (HP:0006532): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 1/5. (PMID:22721650)
- Uveitis (HP:0000554): Inflammation of one or all portions of the uveal tract. Evidence: PCS. Frequency: 2/9. (PMID:26206937)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 9/10. (PMID:22981790;PMID:26206937)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. Frequency: 2/14. (PMID:22608502;PMID:26206937)
- Decreased circulating IgG concentration (HP:0004315): An abnormally decreased level of immunoglobulin G (IgG) in blood. Evidence: PCS. Frequency: 10/14. (PMID:22608502;PMID:26206937)
- Decreased circulating IgM concentration (HP:0002850): An abnormally decreased level of immunoglobulin M (IgM) in blood. Evidence: PCS. Frequency: 4/5. (PMID:22608502)
- Vitiligo (HP:0001045). Evidence: PCS. Frequency: 1/9. (PMID:26206937)
- Inflammation of the large intestine (HP:0002037): Inflammation, or an inflammatory state in the large intestine. Evidence: PCS. (PMID:22608502)
- Lymphoproliferative disorder (HP:0005523). Evidence: PCS. Frequency: 1/5. (PMID:22721650)
- Decreased class-switched memory B cell proportion (HP:0030388): A reduction in the normal proportion of class-switched memory B cells (CD19+/CD27+/IgM+/IgD+) relative to the total number of B cells. Marginal zone B cells undergo limited somatic hypermutation and produce high-affinity IgM and some IgG, whereas class-switched memory B cells synthetize IgG, IgM, and IgA. Evidence: PCS. Frequency: 4/4. (PMID:22608502)
- Asthma (HP:0002099): Asthma is characterized by increased responsiveness of the tracheobronchial tree to multiple stimuli, leading to narrowing of the air passages with resultant dyspnea, cough, and wheezing. Evidence: PCS. Frequency: 1/5. Onset: Childhood onset (HP:0011463). (PMID:22608502)
- Bronchiectasis (HP:0002110): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 3/5. (PMID:22608502)
- Erythema nodosum (HP:0012219): An erythematous eruption commonly associated with drug reactions or infection and characterized by inflammatory nodules that are usually tender, multiple, and bilateral. Evidence: PCS. Frequency: 1/1. (PMID:22981790)
- Pneumonia (HP:0002090): Inflammation of any part of the lung parenchyma. Evidence: PCS. Frequency: 5/5. (PMID:22608502)
- Recurrent sinusitis (HP:0011108): A recurrent form of sinusitis. Evidence: PCS. Frequency: 1/5. (PMID:22608502)
- Decreased total B cell count (HP:0010976): The absolute number of B cells in the blood, per microlitre is below the lower limit of normal of the reference range for the appropriate sex and age-group. Evidence: PCS. Frequency: 5/9. (PMID:26206937)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: PCS. Frequency: 1/5. (PMID:22608502)
- Conjunctivitis (HP:0000509): Inflammation of the conjunctiva. Evidence: PCS. Frequency: 1/5. (PMID:22608502)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: PCS. Frequency: 4/6. (PMID:22721650;PMID:22981790)
- Psoriasiform lesion (HP:0025526): A skin lesions that resembles the lesions observed in psoriasis, viz., an erythematous plaque covered by fine silvery scales. Psoriasiform lesions can be observed in psoriasis as well as in other conditions including allergic contact dermatitis, seborrhoeic dermatitis, Atopic dermatitis, pityriasis rubra, and lichen simplex chronicus. Evidence: PCS. Frequency: 2/9. (PMID:26206937)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:22608502)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/5. (PMID:22608502)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 3/10. (PMID:22721650;PMID:22608502)
- Generalized lymphadenopathy (HP:0008940): A generalized form of lymphadenopathy. Evidence: PCS. Frequency: 1/1. (PMID:22981790)
- Autoimmune thrombocytopenia (HP:0001973): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: PCS. Frequency: 10/19. (PMID:22721650;PMID:22608502;PMID:26206937)
- Recurrent respiratory infections (HP:0002205): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: PCS. Frequency: 5/5. (PMID:22608502)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: PCS. Frequency: 2/6. (PMID:22981790;PMID:22608502)
- Thrombocytopenia (HP:0001873): A reduction in the number of circulating thrombocytes. Evidence: PCS. Frequency: 1/1. (PMID:22981790)
- Decreased circulating IgA concentration (HP:0002720): Decreased levels of immunoglobulin A (IgA). Evidence: PCS. Frequency: 7/9. (PMID:22608502;PMID:26206937)
- Pancytopenia (HP:0001876): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: PCS. Frequency: 1/5. (PMID:22721650)
- Lymphoma (HP:0002665): A cancer originating in lymphocytes and presenting as a solid tumor of lymhpoid cells. Evidence: PCS. Frequency: 1/9. (PMID:26206937)
- 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: 7/11. (PMID:22721650;PMID:22981790;PMID:22608502)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. (PMID:22608502)
These phenotypes are associated with the disease combined immunodeficiency due to LRBA deficiency (OMIM:614700).