- Diffuse alveolar hemorrhage (HP:0025420): A type of of pulmonary hemorrhage that originates from the pulmonary microcirculation, including the alveolar capillaries, arterioles, and venules. It presents with hemoptysis, anemia, diffuse lung infiltration, and acute respiratory failure. The diagnosis is confirmed by the observation of the accumulation of red blood cells, fibrin, or hemosiderin-laden macrophage in the alveolar space on pathologic biopsy. Hemosiderin, a product of hemoglobin degradation, appears at least 48-72 hours after bleeding and is helpful in distinguishing diffuse alveolar hemorrhage from surgical trauma. Mild interstitial thickening, organizing pneumonia, or diffuse alveolar damage can also be seen. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Peritoneal abscess (HP:0100592): The presence of an abscess of the peritoneum. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- 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: 1/1. (PMID:34183838)
- Anti-islet antigen-2 antibody positivity (HP:0034063): The presence of autoantibodies (immunoglobulins) in the serum that react against tyrosine phosphatase IA-2. Evidence: PCS. Frequency: 0/1. (PMID:34183838)
- Anti-insulin antibody positivity (HP:0034062): The presence of autoantibodies (immunoglobulins) in the serum that react against insulin. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Immune dysregulation (HP:0002958): Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Lymphadenopathy (HP:0002716): Enlargement (swelling) of a lymph node. Evidence: PCS. Frequency: 0/1. (PMID:34183838)
- Respiratory failure (HP:0002878): A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Pneumocystis jirovecii pneumonia (HP:0020102): 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. Evidence: PCS. Frequency: 0/1. (PMID:34183838)
- Bone marrow hypocellularity (HP:0005528): A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Verrucae (HP:0200043): Warts, benign growths on the skin or mucous membranes that cause cosmetic problems as well as pain and discomfort. Warts most often occur on the hands, feet, and genital areas. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Abnormal circulating IgM concentration (HP:0410243): An abnormal deviation from normal levels of IgM immunoglobulin in blood. Evidence: PCS. Frequency: 0/1. (PMID:34183838)
- Ground-glass opacification (HP:0025179): On chest radiographs, ground-glass opacity appears as an area of hazy increased lung opacity, usually extensive, within which margins of pulmonary vessels may be indistinct. On CT scans, it appears as hazy increased opacity of lung, with preservation of bronchial and vascular margins. It is caused by partial filling of airspaces, interstitial thickening (due to fluid, cells, and/or fibrosis), partial collapse of alveoli, increased capillary blood volume, or a combination of these, the common factor being the partial displacement of air. Ground-glass opacity is less opaque than consolidation, in which bronchovascular margins are obscured. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Abnormal circulating IgE concentration (HP:0410241): An abnormal deviation from normal levels of IgE immunoglobulin in blood. Evidence: PCS. Frequency: 0/1. (PMID:34183838)
- Increased circulating IgA concentration (HP:0003261): An abnormally increased level of immunoglobulin A in blood. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Positive bloodstream tuberculosis-induced T-cell-based interferon-gamma release assay (HP:6000901): Detection of Mycobacterium tuberculosis in the bloodstream by means of detection of interferon-gamma secreted by T cells in response to specific antigens from Mycobacterium tuberculosis, commonly 6kD early secretory antigenic target-6 and 10kD culture filtrate protein-10. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Extrapulmonary tuberculosis (HP:0032271): A type of tubercular infection located outside of the lung, which is the most common location of tuberculosis. There are two types of clinical manifestation of tuberculosis (TB) are pulmonary TB (PTB) and extrapulmonary TB (EPTB). The former is most common. EPTB refers to TB involving organs other than the lungs (e.g., pleura, lymph nodes, abdomen, genitourinary tract, skin, joints and bones, or meninges). A patient with both pulmonary and EPTB is classified as a case of PTB. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- 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:34183838)
- Increased circulating IgG concentration (HP:0003237): An abnormally increased level of immunoglobulin G in blood. Evidence: PCS. Frequency: 1/1. (PMID:34183838)
- Anti-glutamic acid decarboxylase antibody positivity (HP:0025329): The presence of autoantibodies (immunoglobulins) in the serum that react against glutamic acid decarboxylase. Evidence: PCS. Frequency: 0/1. (PMID:34183838)
These phenotypes are associated with the disease autoimmune disease with susceptibility to mycobacterium tuberculosis (OMIM:621004).