- Reduced MHC II cell surface expression (HP:0031390, a Human Phenotype Ontology term): Expression of major histocompatibility complex class II molecules at the cell surface is below the lower limit of normal. Evidence: TAS. Frequency: Obligate (HP:0040280, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent respiratory infections (HP:0002205, a Human Phenotype Ontology term): An increased susceptibility to respiratory infections as manifested by a history of recurrent respiratory infections. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent infection of the gastrointestinal tract (HP:0004798, a Human Phenotype Ontology term): Recurrent infection of the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:572)
- Abnormal T cell physiology (HP:0011840, a Human Phenotype Ontology term): A functional anomaly of T cells. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:572)
- Sinusitis (HP:0000246, a Human Phenotype Ontology term): Inflammation of the paranasal sinuses owing to a viral, bacterial, or fungal infection, allergy, or an autoimmune reaction. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Failure to thrive (HP:0001508, a Human Phenotype Ontology term): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Diarrhea (HP:0002014, a Human Phenotype Ontology term): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent bacterial infections (HP:0002718, a Human Phenotype Ontology term): Increased susceptibility to bacterial infections as manifested by recurrent episodes of bacterial infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent Staphylococcus aureus infection (HP:0002726, a Human Phenotype Ontology term): Increased susceptibility to Staphylococcus aureus infections as manifested by recurrent episodes of Staphylococcus aureus infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent mucocutaneous candidiasis (HP:0002728, a Human Phenotype Ontology term): Recurrent or persistent superficial Candida infections of the skin, mucous membranes, and nails. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent fungal infections (HP:0002841, a Human Phenotype Ontology term): Increased susceptibility to fungal infections as manifested by multiple episodes of fungal infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Decreased circulating immunoglobulin concentration (HP:0004313, a Human Phenotype Ontology term): An abnormally decreased level of immunoglobulin in blood. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Protracted diarrhea (HP:0004385, a Human Phenotype Ontology term). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent viral infections (HP:0004429, a Human Phenotype Ontology term): Increased susceptibility to viral infections as manifested by recurrent episodes of viral infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent herpes (HP:0005353, a Human Phenotype Ontology term): Increased susceptibility to herpesvirus, as manifested by recurrent episodes of herpesvirus. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Abnormality of humoral immunity (HP:0005368, a Human Phenotype Ontology term): An abnormality of the humoral immune system, which comprises antibodies produced by B cells as well as the complement system. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent protozoan infections (HP:0005386, a Human Phenotype Ontology term): Increased susceptibility to protozoan infections as manifested by recurrent episodes of protozoan infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Recurrent Candida infection (HP:0005401, a Human Phenotype Ontology term): Increased susceptibility to Candida infections as manifested by recurrent episodes of Candida infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Rhinitis (HP:0012384, a Human Phenotype Ontology term): Inflammation of the nasal mucosa with nasal congestion. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Decreased circulating beta-2-microglobulin concentration (HP:0025347, a Human Phenotype Ontology term): The concentration of beta-2-microglobulin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Sclerosing cholangitis (HP:0030991, a Human Phenotype Ontology term): 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. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Chronic hepatitis due to cryptosporidium infection (HP:0200124, a Human Phenotype Ontology term): Chronic hepatitis caused by Cryptosporidium infection that occurs in the context of unusual susceptibility to infection. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
- Acute otitis media (HP:0000371, a Human Phenotype Ontology term): Acute otitis media is a short and generally painful infection of the middle ear. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Skin rash (HP:0000988, a Human Phenotype Ontology term): A red eruption of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Decreased total neutrophil count (HP:0001875, a Human Phenotype Ontology term): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Pancytopenia (HP:0001876, a Human Phenotype Ontology term): An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets). Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Autoimmune hemolytic anemia (HP:0001890, a Human Phenotype Ontology term): An autoimmune form of hemolytic anemia. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Autoimmune neutropenia (HP:0001904, a Human Phenotype Ontology term): 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, accompanied by the detection of anti-neutrophil antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Autoimmune thrombocytopenia (HP:0001973, a Human Phenotype Ontology term): The presence of thrombocytopenia in combination with detection of antiplatelet antibodies. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Autoimmunity (HP:0002960, a Human Phenotype Ontology term): The occurrence of an immune reaction against the organism's own cells or tissues. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Panhypogammaglobulinemia (HP:0003139, a Human Phenotype Ontology term): A reduction in the circulating levels of all the major classes of immunoglobulin. is characterized by profound decreases in all classes of immunoglobulin with an absence of circulating B lymphocytes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Decreased total T cell count (HP:0005403, a Human Phenotype Ontology term): Abnormal decrease in the absolute number of T cells, commonly characterized as CD3+ lymphocytes, per microliter of blood, compared to a reference range for a given sex and age-group. These may include both TCR alpha/beta and gamma/delta T cells. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Decreased mitogen-induced T-cell proliferation (HP:0031381, a Human Phenotype Ontology term): 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. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Abnormal CD4:CD8 ratio (HP:0031394, a Human Phenotype Ontology term): Any abnormality in the relative amount of CD4+ and CD8+ T lymphocytes. Evidence: TAS. Frequency: Occasional (HP:0040283, a Human Phenotype Ontology term). (ORPHA:572)
- Dysarthria (HP:0001260, a Human Phenotype Ontology term): Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:572)
- Abnormal facial shape (HP:0001999, a Human Phenotype Ontology term): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:572)
- Gait ataxia (HP:0002066, a Human Phenotype Ontology term): A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall. Evidence: TAS. Frequency: Very rare (HP:0040284, a Human Phenotype Ontology term). (ORPHA:572)
- Decreased total CD4+ T cell proportion (HP:0032218, a Human Phenotype Ontology term): 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. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:572)
These phenotypes are associated with the disease Immunodeficiency by defective expression of MHC class II (ORPHA:572, an Orphanet rare-disease identifier).