Immunodeficiency 23 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 3 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Neutropenia | circulatory | 100 % | 24589341 | 2024-04-30 | |
| Immune deficiency | lymphatic | 100 % | 24589341 | 2024-04-30 | |
| Recurrent infections | lymphatic | 100 % | 24589341 | 2024-04-30 | |
| Eczema | integumentary | 100 % | 24589341 | 2024-04-30 | |
| Diarrhea | digestive | 100 % | 24589341 | 2024-04-30 | |
| Skeletal deformities | skeletal | 67 % | 24589341 | 2024-04-30 | |
| Short limbs | skeletal | 67 % | 24589341 | 2024-04-30 | |
| Brachydactyly | skeletal | 67 % | 24589341 | 2024-04-30 | |
| Pectus carinatum | skeletal | 67 % | 24589341 | 2024-04-30 | |
| Facial dysmorphism | multi | 67 % | 24589341 | 2024-04-30 | |
| Downturned corners of mouth | multi | 67 % | 24589341 | 2024-04-30 | |
| Midfacial hypoplasia | multi | 67 % | 24589341 | 2024-04-30 | |
| Micrognathia | skeletal | 67 % | 24589341 | 2024-04-30 | |
| Mental retardation | nervous | 67 % | 24589341 | 2024-04-30 | |
| Hydrocephalus | nervous | 67 % | 24589341 | 2024-04-30 | |
| Anemia | circulatory | 67 % | 24589341 | 2024-04-30 | |
| Low serum IgA | circulatory | 67 % | 24589341 | 2024-04-30 | |
| Low serum IgM | circulatory | 66 % | 24589341 | 2024-04-30 | |
| High serum IgE | circulatory | 33 % | 24589341 | 2024-04-30 | |
| Low serum IgG | circulatory | 33 % | 24589341 | 2024-04-30 | |
| Seizures | nervous | 33 % | 24589341 | 2024-04-30 |
List of references:
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J Lyons, Shrimati Datta, Ian T Lamborn, Huie Jing, Emily S Kim, Matthew Biancalana, Lynne A Wolfe, Thomas DiMaggio, Helen F Matthews, Sarah M Kranick, Kelly D Stone, Steven M Holland, Daniel S Reich, Jason D Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F Freeman, Hudson H Freeze, Helen C Su, Joshua D Milner,
The Journal of allergy and clinical immunology - May 2014