Case#: 2/M. 10 y.o. (onset) and 13 y.o. (at assessment), male

DiseaseAssertion: Patient had thrombocytopenia, associated bleeding, neutropenia, and lymphoid hyperplasia in lungs, lymph nodes, and brain, refractory to immunomodulatory therapy. The diagnosis of CTLA4 haploinsufficiency was made retrospectively in 7 patients who underwent HSCT for life-threatening, treatment-resistant immune dysregulation and in 1 patient prospectively (unclear which patients were identified retrospectively and prospectively).

FamilyInfo: None provided

CasePresentingHPOs: HP:0001873 (Thrombocytopenia), HP:0001875 (Neutropenia), OMIM:188030 (Immune thrombocytopenic purpura/ITP), HP:0001904 (Autoimmune neutropenia)

CaseHPOFreeText: ITP and autoimmune neutropenia, Reactive lymphoid hyperplasia—lymph nodes, lung, frontal lobe brain.

All 8 patients received steroids and a calcineurin inhibitor before transplant

Five patients (including this patient) had peripheral blood HSC grafts and received cyclosporine and mycophenolate mofetil (MMF) for graft versus host disease (GvHD) prophylaxis.

Patient died 4 months post-transplant due to transplant-related mortality of severe acute gut GvHD (Acute grade IV gut).

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

CasePreviousTesting: Not found

GenotypingMethod: Not found

PreviouslyPublished: Yes, Schwab et al. PMID: 29729943

Variant: NM_005214.5:c.529T>G

ClinVarID: N/A

CAID: CA350139018

gnomAD: Not found

SupplementalData: More information regarding Lymphocyte subsets and Immunoglobulins in Table I. Table II contains variant information and Table III contains further details about HSCT and a breakdown of each patient's transplant procedure.

Note: No mention of whether or not the patient was tested using transendocytosis.

Case#:1/M. 1.5 y.o. (onset) and 14 y.o. (at assessment), male

DiseaseAssertion: Patient had arthritis, neutropenia and thrombocytopenia, lymphadenopathy, and abdominal pain. The diagnosis of CTLA4 haploinsufficiency was made retrospectively in 7 patients who underwent HSCT for life-threatening, treatment-resistant immune dysregulation and in 1 patient prospectively (unclear which patients were identified retrospectively and prospectively).

FamilyInfo: Father was noted to have Immune dysregulation, Cytopenias and Lymphoma. The patient's father was also noted to have a complex autoimmune disease and died after autologous HSCT for non-Hodgkin lymphoma.

CasePresentingHPOs: HP:0001369 (Arthritis), HP:0001875 (Neutropenia), HP:0001873 (Thrombocytopenia), HP:0002716 (Lymphadenopathy), HP:0002027 (Abdominal pain), HP:0002720 (Decreased circulating IgA level).

CaseHPOFreeText: Autoimmune pancytopenia, Recurrent abdominal pain, Arthritis

This patient was offered HSCT because of ongoing autoimmunity and risk of lymphoma because his father had complex autoimmune disease and died after autologous HSCT for non-Hodgkin lymphoma.

All 8 patients received steroids and a calcineurin inhibitor before transplant

Five patients (including this patient) had peripheral blood HSC grafts and received cyclosporine and mycophenolate mofetil (MMF) for graft versus host disease (GvHD) prophylaxis.

Patient had cytomegalovirus reactivation early post-HSCT and autoimmune hemolytic anemia 6 months post-HSCT, which responded to steroids; he is now off all medication.

CaseNotHPOs: N/A

CaseNotHPOFreeText: Patient has low levels of IgA but IgG and IgM levels appear to be within normal range. See Table I.

CasePreviousTesting: Not found

GenotypingMethod: Not found

PreviouslyPublished: Yes, Schwab et al. PMID: 29729943

Variant: c.518G>A, p.G173E

ClinVarID: N/A

CAID: CA350138990

gnomAD: Not found

SupplementalData: More information regarding Lymphocyte subsets and Immunoglobulins in Table I. Table II contains variant information and Table III contains further details about HSCT and a breakdown of each patient's transplant procedure.

Note: No mention of whether or not the patient was tested using transendocytosis.

Karan, A. (2022). We cannot afford to repeat these four pandemic mistakes. BMJ, 376, o631. https://doi.org/10.1136/bmj.o631

gene name: DICER 1 PMID (PubMed ID): 33570641 HGNCID: n/a Inheritance Pattern: autosomal dominant Disease Entity: benign and malignant tumor mutation Mutation: somatic Zygosity: heterozygous Variant: n/a Family Information: n/a Case: people of all sexes, ages, ethnicities and races participated CasePresentingHPOs: individuals with DICER1-associated tumors or pathogenic germline DICER1 variants were recruited to participate CasePreviousTesting: n/a gnomAD: n/a

HGNCID:

GeneName:DICER1 PMID (PubMed ID): PMCID: PMC6418698 PMID: 30672147 HGNCID: NOT LISTED<br /> Inheritance Pattern: Autosomal Dominant Disease Entity: Cancer; benign and malignant tumors including pleuropulmonary blastoma, cystic nephroma, Sertoli-Leydig cell tumors, multinodular goiter, Thryoid cancer, rhabdomyosarcoma, and pineoblastoma. Mutation: Somatic missense variation Mutation type: missense Zygosity: None stated Variant: unregistered…. Family Information: Characterize germline variants in familial early-onset clorectal cancer patients; The observation of germline DICER1 variation with uterine corpus endometrial carcinoma merits additional investigation. CasePresentingHPOs: uterine and rectal cancers in germline mutation

ReconfigBehSci on Twitter: ‘RT @amymaxmen: Link to the meeting: Https://t.co/3UH1R8fblN’ / Twitter. (n.d.). Retrieved 22 March 2022, from https://twitter.com/SciBeh/status/1486268859741052930

Prof Peter Hotez MD PhD. (2021, October 30). Many thanks @FWhitfield for hosting me this Saturday AM @CNN In case it’s helpful, I’ve prepared an informal ‘fact sheet’ on COVID in children and COVID vaccines in 5-11 age group. Highlights attached...feel free to RT or repurpose the information [Tweet]. @PeterHotez. https://twitter.com/PeterHotez/status/1454489603013062656

Pagel, C., & Yates, C. A. (2021). Tackling the pandemic with (biased) data. Science, 374(6566), 403–404. https://doi.org/10.1126/science.abi6602

Miller, A. (2021, August 27). States Pull Back on Covid Data Even Amid Delta Surge. Kaiser Health News. https://khn.org/news/article/states-pull-back-on-covid-data-even-amid-delta-surge/

COVID-19 Patients Not Allowed to Know Which Variant Infected Them. (n.d.). Retrieved September 7, 2021, from https://www.businessinsider.com/covid-patients-cant-know-which-variant-infected-them-delta-2021-8?r=US&IR=T