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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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[Revise subclass] Review classification of immune disorders #3958

Closed nicolevasilevsky closed 2 years ago

nicolevasilevsky commented 3 years ago

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).

nicolevasilevsky commented 3 years ago

Table 1.1: (note, these OMIM pages lead to the gene, and there are associated diseases with each gene)

nicolevasilevsky commented 3 years ago

table 1.2 T-B- SCID

nicolevasilevsky commented 3 years ago

table 1.3 Combined immunodeficiency (CID), generally less profound than SCID (MONDO_0015131)

nicolevasilevsky commented 3 years ago

table 2.1 Immunodeficiency with congenital thrombocytopenia

nicolevasilevsky commented 3 years ago

table 2.2 DNA repair defects other than those listed in Table 1

nicolevasilevsky commented 3 years ago

table 2.3. Thymic defects with additional congenital anomalies

nicolevasilevsky commented 3 years ago

table 2.4. Immuno-osseous dysplasias

nicolevasilevsky commented 3 years ago

table 2.5. Hyper IgE syndromes (HIES)

nicolevasilevsky commented 3 years ago

table 2.6. Defects of vitamin B12 and folate metabolism

nicolevasilevsky commented 3 years ago

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.

nicolevasilevsky commented 2 years ago

I will convert this to a discussion because this is a big project.