Clinical Signs and Symptoms
ORPHA:572 Immunodeficiency by defective expression of MHC class II
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Reduced MHC II surface expression HP:0031390
Always present
- Lack of T cell function HP:0005354
- Recurrent infection of the gastrointestinal tract HP:0004798
- Recurrent respiratory infections HP:0002205
Very frequent
- Abnormality of humoral immunity HP:0005368
- Chronic hepatitis due to cryptosporidium infection HP:0200124
- Chronic mucocutaneous candidiasis HP:0002728
- Decreased antibody level in blood HP:0004313
- Decreased circulating beta-2-microglobulin level HP:0025347
- Decreased proportion of CD4-positive T cells HP:0005407
- Diarrhea HP:0002014
- Failure to thrive HP:0001508
- Protracted diarrhea HP:0004385
- Recurrent Staphylococcus aureus infections HP:0002726
- Recurrent bacterial infections HP:0002718
- Recurrent candida infections HP:0005401
- Recurrent fungal infections HP:0002841
- Recurrent herpes HP:0005353
- Recurrent protozoan infections HP:0005386
- Recurrent viral infections HP:0004429
- Rhinitis HP:0012384
- Sclerosing cholangitis HP:0030991
- Sinusitis HP:0000246
Frequent
- Abnormal CD4:CD8 ratio HP:0031394
- Acute otitis media HP:0000371
- Autoimmune hemolytic anemia HP:0001890
- Autoimmune thrombocytopenia HP:0001973
- Autoimmunity HP:0002960
- Decrease in T cell count HP:0005403
- Decreased lymphocyte proliferation in response to mitogen HP:0031381
- Neutropenia HP:0001875
- Neutropenia in presence of anti-neutropil antibodies HP:0001904
- Pancytopenia HP:0001876
- Panhypogammaglobulinemia HP:0003139
- Skin rash HP:0000988
Occasional
- Abnormal facial shape HP:0001999
- Dysarthria HP:0001260
- Gait ataxia HP:0002066
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.