| HPO |
HP:0002955 |
Granulomatosis |
"A granulomatous inflammation leading to multiple granuloma formation, which is a specific type of inflammation. A granuloma is a focal compact collection of inflammatory cells, mononuclear cells predominating, usually as a result of the persistence of a non-degradable product and of active cell mediated hypersensitivity." [HPO:probinson, PMID:10908370, PMID:937513] |
This finding can be demonstrated by tissue biopsy. A granuloma is a compact (organized) collection of mature mononuclear phagocytes (macrophages and/or epithelioid cells) which may or may not be accompanied by accessory features such as necrosis or the infiltration of other inflammatory leukocytes (Adams DO. The granulomatous inflammatory response. Am J Pathol 1976:84:163-192). |
HP:0004311 |
| HPO |
HP:0002958 |
Immune dysregulation |
"Altered immune function characterized by lymphoid proliferation, immune activation, and excessive autoreactivity often leading to autoimmune/inflammatory complications." [PMID:26233425] |
— |
HP:0010978 |
| HPO |
HP:0002959 |
Impaired Ig class switch recombination |
"An impairment of the class-switch recombination process that normally leads B lymphocytes to produce IgG, IgA, or IgE." [HPO:probinson, PMID:11544001] |
The generation of the antibody repertoire requires two successive steps. The first is antigen- and T-cell-independent; it takes place in the fetal liver and the bone marrow. Immature B lymphocytes rearrange their immunoglobulin-gene variable segments (V segments), diversity segments (D segments) and joining segments (J segments), producing a functionally integrated VDJ segment linked to the mu constant region (C-mu), which determines the primary antibody repertoire composed of IgM antibodies. The second step is antigen- and T-cell-dependent and takes place in secondary lymphoid organs. After encountering antigen, B cells proliferate and form germinal centers. In this unique anatomic formation, two genetic events lead to generation of the secondary antibody repertoire: class-switch recombination (CSR) and somatic hypermutation (SHM). CSR of immunoglobulins occurs by a recombination process between two different switch regions (S regions) located upstream of each C region. Replacement of C-mu by a constant region of another class of immunoglobulin (C-gamma, C-alpha or C-epsilon) ensues and leads to the production of IgG, IgA or IgE. |
HP:0005372 |
| HPO |
HP:0002960 |
Autoimmunity |
"The occurrence of an immune reaction against the organism's own cells or tissues." [HPO:probinson] |
— |
HP:0010978 |
| HPO |
HP:0002961 |
Dysgammaglobulinemia |
"Selective deficiency of one or more, but not all, classes of immunoglobulins." [HPO:probinson] |
— |
HP:0004313 |
| HPO |
HP:0002963 |
Abnormal delayed hypersensitivity skin test |
"Delay in cutaneous immune reaction to specific antigens mediated not by antibodies but by cells. The delayed hypersensitivity test is an immune function test measuring the presence of activated T cells that recognize a specific antigen and is performed by injecting a small amount of the antigen into the skin. The area of the injection is examined 48-72 hours thereafter." [HPO:probinson] |
This is an immune function test measuring the presence of activated T cells that recognize a certain substance. |
HP:0011840 |
| HPO |
HP:0002965 |
Cutaneous anergy |
"Inability to react to a delayed hypersensitivity skin test." [HPO:probinson] |
Anergy skin testing assesses the responses to skin-test antigens to which a cell-mediated, delayed-type hypersensitivity (DTH) response is expected. |
HP:0002963 |
| HPO |
HP:0002967 |
Cubitus valgus |
"Abnormal positioning in which the elbows are turned out." [HPO:probinson] |
— |
HP:0009811 |
| HPO |
HP:0002970 |
Genu varum |
"A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together." [HPO:probinson] |
— |
HP:0002815, HP:0002979 |
| HPO |
HP:0002971 |
Absent microvilli on the surface of peripheral blood lymphocytes |
"Absence of the fingerlike protrusive, actin-dependent structures found on the surface of peripheral blood lymphocytes." [PMID:15130947] |
— |
HP:0004332 |
| HPO |
HP:0002972 |
Reduced delayed hypersensitivity |
"Decreased ability to react to a delayed hypersensitivity skin test." [HPO:probinson] |
— |
HP:0002963 |
| HPO |
HP:0002973 |
Abnormality of the forearm |
"An abnormality of the lower arm." [HPO:probinson] |
— |
HP:0002817 |
| HPO |
HP:0002974 |
Radioulnar synostosis |
"An abnormal osseous union (fusion) between the radius and the ulna." [HPO:probinson] |
— |
HP:0002818, HP:0002997, HP:0100238 |
| HPO |
HP:0002977 |
Aplasia/Hypoplasia involving the central nervous system |
"Absence or underdevelopment of tissue in the central nervous system." [HPO:probinson] |
— |
HP:0002011 |
| HPO |
HP:0002979 |
Bowing of the legs |
"A bending or abnormal curvature affecting a long bone of the leg." [HPO:probinson] |
— |
HP:0002981, HP:0006487 |
| HPO |
HP:0002980 |
Femoral bowing |
"Bowing (abnormal curvature) of the femur." [HPO:probinson] |
— |
HP:0002823, HP:0002979 |
| HPO |
HP:0002981 |
Abnormality of the calf |
"An abnormality of the calf, i.e. of the posterior part of the lower leg." [HPO:probinson] |
— |
HP:0002814 |
| HPO |
HP:0002982 |
Tibial bowing |
"A bending or abnormal curvature of the tibia." [HPO:probinson] |
A developmental defect with posteromedial tibial angulation. |
HP:0002979, HP:0002992 |
| HPO |
HP:0002983 |
Micromelia |
"The presence of abnormally small extremities." [HPO:probinson] |
— |
HP:0009826 |
| HPO |
HP:0002984 |
Hypoplasia of the radius |
"Underdevelopment of the radius." [HPO:probinson] |
— |
HP:0006501, HP:0009821, HP:0045009 |
| HPO |
HP:0002986 |
Radial bowing |
"A bending or abnormal curvature of the radius." [HPO:probinson] |
— |
HP:0003956, HP:0045008 |
| HPO |
HP:0002987 |
Elbow flexion contracture |
"A chronic loss of elbow joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevent normal movement of the joints of the elbow." [HPO:probinson] |
— |
HP:0002996, HP:0100360 |
| HPO |
HP:0002990 |
Fibular aplasia |
"Absence of the fibula." [HPO:probinson] |
— |
HP:0006492 |
| HPO |
HP:0002991 |
Abnormality of fibula morphology |
"An anomaly of the calf bone (fibula), one of the two bones of the calf." [HPO:probinson] |
— |
HP:0002981, HP:0040069 |
| HPO |
HP:0002992 |
Abnormality of tibia morphology |
"Abnormality of the tibia (shinbone)." [HPO:curators] |
— |
HP:0002981, HP:0040069 |