Closed nicolevasilevsky closed 2 years ago
Table 1.1: (note, these OMIM pages lead to the gene, and there are associated diseases with each gene)
table 1.2 T-B- SCID
table 1.3 Combined immunodeficiency (CID), generally less profound than SCID (MONDO_0015131)
table 2.1 Immunodeficiency with congenital thrombocytopenia
table 2.2 DNA repair defects other than those listed in Table 1
table 2.3. Thymic defects with additional congenital anomalies
table 2.4. Immuno-osseous dysplasias
table 2.5. Hyper IgE syndromes (HIES)
table 2.6. Defects of vitamin B12 and folate metabolism
table 2.7. Anhidrotic ectodermodysplasia with immunodeficiency (EDA-ID)
table 2.8. Calcium channel defects
table 2.9. Other defects skipping this section because we wouldn't classify something as 'other' in Mondo.
table 3.1. Severe reduction in all serum immunoglobulin isotypes with profoundly decreased or absent B cells, agammaglobulinemia
table 3.2. Severe reduction in at least 2 serum immunoglobulin isotypes with normal or low number of B cells, CVID phenotype
table 3.3. Severe reduction in serum IgG and IgA with normal/elevated IgM and normal numbers of B cells, hyper IgM
table 3.4. Isotype, light chain, or functional deficiencies with generally normal numbers of B cells
table 4.1. Familial hemophagocytic lymphohistiocytosis (FHL syndromes)
table 4.2. FHL syndromes with hypopigmentation
table 4.3. Regulatory T cell defects
table 4.4. Autoimmunity with or without lymphoproliferation
table 4.5. Immune dysregulation with colitis
table 4.6. Autoimmune lymphoproliferative syndrome (ALPS, Canale-Smith syndrome)
table 4.7. Susceptibility to EBV and lymphoproliferative conditions
table 5.1. Congenital neutropenias
table 5.2. Defects of motility
table 5.3. Defects of respiratory burst
table 5.4. Other non-lymphoid defects. skipping this section because we wouldn't classify something as 'other' in Mondo.
table 6.1. Mendelian susceptibility to mycobacterial disease (MSMD)
table 6.2. Epidermodysplasia verruciformis (HPV)
table 6.3. Predisposition to severe viral infection
table 6.4. Herpes simplex encephalitis (HSE)
table 6.5. Predisposition to invasive fungal diseases
table 6.6. Predisposition to mucocutaneous candidiasis
table 6.7. TLR signaling pathway deficiency with bacterial susceptibility
table 6.8. Other inborn errors of immunity related to non-hematopoietic tissues
table 6.9. Other inborn errors of immunity related to leukocytes
table 7.1. Type 1 interferonopathies
table 7.2. Defects affecting the inflammasome
table 7.3. Non-inflammasome-related conditions (new term request?)
table 8. Complement deficiencies
table 9. Bone marrow failure
table 10.Phenocopies of inborn errors of immunity I'm not totally sure what this means, but there are not associated OMIM IDs, so I am skipping this.
I will convert this to a discussion because this is a big project.
review this article: https://link.springer.com/article/10.1007/s10875-019-00737-x
See the 10 tables. Make sure our classification of these diseases are consistent with the tables.
Action item:
Source: PMID:31953710
Update - this was discussed on the Mondo curation call on 11/11/21 with Sabrina and Peter and we should go ahead and redo the classifications and add new parents where needed.
If any questions arise, we should try to follow up with the author Kathleen E. Sullivan (Peter knows her).