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Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161376757.77777875/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. oabYousaf Zohaib and report Case syndrome. review. DiGeorge literature in illness viral B12 and vitamin deficiency with associated hemolytic Autoimmune eet ohwr eoyaial ninfiatadmngdcnevtvl.Teptetas suffered also patient The septal conservatively. ventricular small managed a and and insignificant arteriosus secondary ductus hemodynamically immunosuppression patent were with to diagnosed Both attributed the also , over was defect. She childhood loss meat weight however, recurrent syndrome. diet; of DiGeorge for specific Kg to significant a 5 preferences. was follow dietary and not history did to urine Her and due dark use diet for alcohol patient her remarkable contacts of the in history was sick presentation, no limited no system had was of were the patient day There of The the vomiting. review 10days. high- On preceding The intermittent non--stained yellowish, sputum. of travel. of whitish history recent episodes of a or three productive with and cough presented nausea and syndrome, developed nose, DiGeorge runny of , case grade known lady, Qatari 18-year-old female, adult an report: in Case syndrome deficiency. DiGeorge B12 to vitamin secondary patient and the Keywords: AIHA illness by of affected viral is case a line by a purpura cell precipitated report thrombocytopenic one likely facial We than idiopathic include more including Usually, cytopenias. commonly cytopenias, (AIHA.) experiencing and anemia with hemolytic clinical associated person autoimmune other occasionally to and and (ITP) is person immunodeficiency, pharyngeal It a from hypoplasia, fourth [1]. to vary thymic and problems leads defects, features third and heart clinical of hypoparathyroidism, 22q11.2 development and abnormalities, abnormal microdeletion presentation in a The results from microdeletion pouches. resulting This immunodeficiency primary disorder. multifaceted a is syndrome DiGeorge Introduction: illness review viral literature Title: and and Running deficiency report B12 Case vitamin syndrome. with DiGeorge associated in anemia hemolytic immunoglobulins. Autoimmune intravenous and case Title: steroids a intravenous report by We managed purpura. successfully thrombocytopenic was idiopathic which with AIHA, rarely conjunction is with in hemolysis syndrome reported Isolated DiGeorge usually 22. is of chromosome and of syndrome microdeletion arm DiGeorge long in to seen due disorder immunodeficiency an syndrome, DiGeorge Abstract 2021 19, February 1 Akram aa eia Corporation Medical Hamad 1 n nn Kartha Anand and , iereSnrm,Atimn eoyi,AH,B2dfiiny ia illness. Viral deficiency, B12 AIHA, hemolysis, Autoimmune Syndrome, DiGeorge 1 aenAta Fateen , uomuehmlssi ieresyndrome DiGeorge in hemolysis Autoimmune 1 1 ho Iqbal Phool , 1 asmMuthanna Bassam , 1 1 de Khan Adeel , 1 Jaweria , Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161376757.77777875/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. eut.Teltrtr ossso aerprsadartopciemlietrcs-oto td ih23 hematologic with for study predictors case-control the multicenter discussed retrospective hemolysis a fifteen with and yielded (22q11.2DS) using reports PubMed syndrome (DS) case on deletion 8 syndrome (DiGeorge)” 22q11.2 of of AND DiGeorge patients consists anemia)) with literature (hemolytic associated The OR patient hemolysis “((hemolysis) our results. autoimmune of in of strategy high reporting search was the of which [5]. RBC, review proteins to literature enzymatic PMNL A and of ratio structural can high RBC Homocysteine a increase with of on can interaction [6]. accumulation depends B12 and The action vitamin affected damage hemolytic of Homocysteine. oxidative Homocysteine’s the deficiency and by of A acid hemolysis 10% [4]. methylmalonic and increase erythropoiesis to purine including red inhibits ineffective erythroblast up precursors, B12 causes and from intramedullary vitamin synthesis in the anemia DNA of synthesis to of Deficiency hemolysis in due impairment DNA resulting mechanisms. This to erythropoiesis deficiency the in apoptosis, synthesis. Ineffective of lead A DNA involved one impairs can deficiency. is which is (RBC) syntheses, folate. this B12 thymidylate cells B12 to or blood vitamin Vitamin attributed red range B12 of of are wide of destruction deficiency mechanisms anemia. the deficiency acquired. Several The to megaloblastic to or due to [3]. infectious congenital [2]. needed lead and either maturation is autoimmune can be hemolysis cell to B12 of can drugs vitamin etiology that from of underlying disorders ranging an hematologic causes identifying of of for group workup diverse 1] extensive [Figure a An her management. is further throughout anemia hospi- for stable Hemolytic her clinic was of hematology hemoglobin the duration patient’s in the The up for followed therapy. Discussion: daily be B12 1000mcg will vitamin methyl- she cyanocobalamin immunoglobulin oral (IV) and intravenous IV stay, continue intravenous received received hospital will of she also days and Also, She hema- seven stay steroids. A receive tal days. oral to methylprednisolone. of three planned course of for intravenous was tapering (IVIG) patient 100mg a and the by followed cells and population. prednisolone, red sought, T-cell per- packed was and Bone-marrow was of opinion B units unrevealing. pelvis tology normal was two and a and received and abdomen, hemolysis patient of hematopoiesis chest, The active cause the the with of as consistent malignancy scan levels features C4 showed underlying tomography and any examination computerized C3, out IgM, A of rule IgG, autoimmune to confirmation Serum antibody-induced formed limits. for IgG negative. tested normal was warm and screen of within direct autoimmune prepared presence were the complete was the A AHG eluate confirmed , (AIHA). monospecific test An anemia underlying The elution hemolytic anti-C3d. positive an positive. for the was by negative and and and precipitated sent antibodies, anti-IgG was likely for (AHG) anemia globulin positive antihuman was hemolytic polyspecific for of test diagnosis Coomb’s working a cell red With anemia and macrocytic formation, marked rouleaux 1] ( showed increased [Table smear cells, unrevealing. blood Hyper-segmented blood red Peripheral nucleated agglutination. stripling, hemolysis. basophilic hyperbilirubinemia intravascular indirect anisocytosis, with with with haptoglobin showed low line and count LDH, in for high blood keeping a except reticulocytosis, complete negative showed workup A were anemia red An high results the swab. with 1] The of 3.5gm/dL) [Table nasopharyngeal (hemoglobin RT- rest width. the anemia infection. including distribution hypochromic The in cell screen, underlying macrocytic, culture, adenovirus severe viral an urine noted. and and respiratory X-ray, leukocytosis for was rhinovirus the chest neutrophilic looking icterus of a for sent scleral swab presence including was nasopharyngeal and screen, the COVID-19, a sepsis pale no and complete for were had A screen, PCR conjunctivae but comfortably The limits. minute) sitting cultures, normal per lady blood distress. within young beats was any a (118 exam in revealed tachycardiac physical not examination and Physical bed, C) (38.7 in hypotension. febrile or was tachypnea, attributed patient desaturation, also were the which presentation, (ADHD), Upon disorder hyperactivity syndrome. deficit DiGeorge attention the and to disability learning a from > oe)wr lontd te aoaoywru was workup laboratory Other noted. also were lobes) 6 2 Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161376757.77777875/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. aa ainlLbayhsfne h ulcto ftemanuscript. the of publication Authors: the funded has Library National Qatar case. the publish to Sources consent Funding informed any verbal his in given involvement has or Subject with affiliations discussed materials no or consent: and matter Patient subject interest the of in interest manuscript. conflict non-financial this or no financial in have any with they entity or that organization certify authors relevant all The Cor- once Medical statement published Hamad interest/Disclosure be of of only council Conflict will research It medical obtained. ”www.abhath.hamad.qa”. the are platform by approvals institutional online process their review using the poration, ethically complete conducted will is manuscript study The body: The research Helsinki. institutional case. of the this Declaration from publish Association Approval to Medical consent World verbal the given with has accordance family in her and patient The manuscript. Ethics this of of Statement publication the funded Library National Qatar cytopenias) of diagnosis of time Acknowledgments: the at transplant, Age: marrow female, bone 1: F: BMT: Figure male, ventricle, M: right month, outlet Mo: Double DORV: Pulmonary year, PAVSD: defect, Y: mofetil, septal mycophenolate ventricular MMF: thrombocy- with anemia, immune hemolytic atresia ITP: immunoglobulins, autoimmune intravenous AIHA: IVIG, purpura, Fallot, of topenia Tetralogy TOF: available, not (NA: 2: Table which B12, 1: vitamin Table in legends: deficient patients. with diet of figures a cohort and and this Tables checking syndrome in suggest DiGeorge episodes Authors underlying with hemolytic syndrome. the severe patients DiGeorge prevent possibly of in history is may regularly a triggers with levels these patient Combining B12 our episodes in serum deficiency hemolysis. AIHA AIHA B12 of any late-onset vitamin onset and the develop infection the for not respiratory reason with viral did associated of patient combination triggers the our the that were syndrome, believe authors DiGeorge The with birth. associated since is AIHA though smear Even peripheral the function, thyroid on normal neutrophils a multi-lobulated anemia. this level, Conclusion: with macrocytic of B12 user, induced attribute vitamin non-alcohol B12 unique normal a vitamin other low was of The a and are suggestive had level, presentation. syndrome patient folate late The DiGeorge normal the deficiency. with a and B12 involvement associated knowledge, vitamin line involvement our is single-cell of line case the best cell is the autoimmune To unique 4 sole the cytopenia. case it line the makes triple This as or AIHA ITP reported. with with associated cases AIHA 3 describe cases the of Most 2]. [Table [7-15] (HA) autoimmunity development ieauerve o h soito fAH ihDGog Syndrome DiGeorge with AIHA of association the for review literature A Parameters. Laboratory eolbntruhtehsia stay. hospital the through Hemoglobin th eotdcs nteltrtr otebs forkolde htmksthis makes What knowledge. our of best the to literature the in case reported 3 Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161376757.77777875/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. l uhr eiwdadapoe h nlmanuscript. final References: the approved and reviewed authors All Email: 5836 6640 +974 number: Phone Qatar. Doha, 3050, Box PO Qatar. Doha, Corporation, Medical Hamad Akram. Jaweria Author: Corresponding [email protected] Email: supervision and review manuscript Contribution: Kartha: Anand submission [email protected] and Email: editing writing, manuscript author, corresponding Contribution: Akram: Jaweria [email protected] Emial: review. and writing Manuscript Contribution: Khan: Ahmad Adeel [email protected] Email: review. and writing manuscript Contribution: Muthanna: Bassam submission. [email protected] before Email: review and editing writing, manuscript Contribution: Iqbal: Phool [email protected] Email: writing manuscript and review literature Contribution: Ata: Fateen review. [email protected]. literature Email: and writing manuscript identification, Case Contribution: Yousaf: Zohaib contributions: Qatar. their Doha, and Corporation, Authors Medical Hamad Qatar Medicine, Doha, Internal Corporation, of Medical Department Hamad Medicine, Internal Fellow, Clinical Chief Affiliations: Kartha Anand Yousaf Zohaib [email protected] 1 2 aenAta Fateen , 2 ho Iqbal Phool , 2 asmMuthanna Bassam , 4 2 de ha hn,JwraAkram Jaweria Khan2, Ahmad Adeel , 2 , Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161376757.77777875/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. 5 otnD,MrlaA,LciriF,RbsoF,D eaeS,RctiE,e al., et E., Ricotti S., Deleti- Cesare 22q11.2 Di in F., Cytopenia Robasto file Autoimmune Hosted F., of Licciardi Development 2376.https://doi.org/10.1016/j.jaip.2019.03.014 the A., Syndrome. Predict Marolda on Anomalies D., literature. munophenotype the Montin of review 15. and report case a exchange: 100 plasma with successfully treated al., syndrome. S´eguin and C., et deletion M. E., Damlaj 22q11.2 14. Ogawa chromosome T., Tanaka with A., patient Sato a 612-4.10.1111/j.1442-200x.2004.01940.x A., report. in Suzuki case anemia M., a hemolytic Imaizumi cytopenias: refractory O., steroid Sakamoto severe 13. and syndrome 2013. deletion L., Kossiva Oncol, 22q11.2 and Hematol with E., Pediatr child Goussetis a O., Vougiouka in T., therapy Anastassiou A., D., Soldatou Turck 12. and C., Rey A., Lambilliotte M., syndrome. C., DiGeorge Neat Barbier B., and Bruno N., 11. Foot J.D., Cavenagh P., syndrome. Telfer deletion R.W., J.K., Hostoffer Davies syndrome. and 10. DiGeorge/velocardiofacial A.B., with Zinn N.H., patients Robin two 484-6.10.1016/s0022-3476(97)80085-6 B.W., in Berman cytopenias E.M., mune Lourie A.D., DePiero G 9. and report. G., case Janssen a A., syndrome: Heusch 72.10.1080/0880010390158685 deletion S., 22q11.2 Lyding chromosome T., with syndrome. Niehues DiGeorge C.P., with Kratz patient 8. a J.H., in Passwell and liver S., and Engelberg penia M., Mandel O., Pinchas-Hamiel 7. L., Fleischer experience. leukocytes. and polymorphonuclear vitro B., 912-6.10.1006/bbrc.1996.1449 activated in Handler the an F.A., by from Kummerow increased results R., deficiency: Olinescu folate 6. and G., B(12) Salvioli 2004. vitamin Acta, and to Biophys S., Biochim due Tremosini anaemias R., megaloblastic of Panini P., Ventura 5. 2004. P., Nutr, Ponka Rev and Annu M.J. Koury literature. the 4. of W., review Carlsen and and reports C.T., case three Hsueh 2008. P., deficiency: Ventura cobalamin W., by Horvath caused J.T., cysteinemia Gau U., Acharya 3. C.M., Abe-Jacob Andr`es E., and and M., 17-28.10.1093/qjmed/hcn138 N. Dali-Youcef Carneiro-Sampaio C.A., 2. disease. Pereira rare C.A., so Kim not 59322010000900009 A.C., a Pastorino Syndrome: A.B., DiGeorge Fomin 1. 5:p 494-7.10.1007/s12185-014-1648-1 p. (5): 1 .26.10.1186/1756-8722-1-26 p. : h ora fAlryadCiia muooy nPatc,2019. Practice, In Immunology: Clinical and of Journal The lnLbHeao,2003. Haematol, Lab Clin u eit,2002. Pediatr, J Eur 24 .105-31.10.1146/annurev.nutr.24.012003.132306 p. : ercoyatimn eoyi nmai ain ihDGog syndrome DiGeorge with patient a in anemia hemolytic autoimmune Refractory 1739 35 e nihsit rtrpiss h oe fflt,vtmnB2 n iron. and B12, vitamin folate, of roles the erythropoiesis: into insights New 4:p 311-4.10.1097/MPH.0b013e31828be602 p. (4): 1:p 33-42.10.1016/j.bbadis.2004.08.005 p. (1): nudt ncblmndfiinyi adults. in deficiency cobalamin on update An 161 lnc SoPuo,2010. Paulo), (Sao Clinics 25 7:p 390-2.10.1007/s00431-002-0976-y p. (7): 3:p 195-7.10.1046/j.1365-2257.2003.00508.x p. (3): 5 ice ipy e omn 1996. Commun, Res Biophys Biochem oefrhmcsen nraei haemolysis in increase homocysteine for role A eit eao no,2003. Oncol, Hematol Pediatr s e c,1994. Sci, Med J Isr uoimn actpnai hl with child a in pancytopenia Auto-immune h eoyi ciiyo ooytieis homocysteine of activity hemolytic The muehmltcaei,thrombocyto- anemia, hemolytic Immune uomuectpna nte22q11.2 the in cytopenias Autoimmune blU., ¨ obel 65 9:p 865-9.10.1590/s1807- p. (9): eit,1997. Pediatr, J r nin ffc fanti-CD20 of effect Transient vn ydoei patient a in syndrome Evans eit n,2004. Int, Pediatr eoyi n hyperhomo- and Hemolysis 30 j,2009. Qjm, ercoyautoimmune Refractory 7:p 530-2 p. (7): n eao,2014. Hematol, J Int eao Oncol, Hematol J 7 20 eurn im- Recurrent 7:p 2369- p. (7): 131 102 2:p 167- p. (2): 226 46 3:p. (3): 1:p. (1): 5:p. (5): 3:p. (3): Im- J Posted on Authorea 19 Feb 2021 — The copyright holder is the author/funder. All rights reserved. No reuse without permission. — https://doi.org/10.22541/au.161376757.77777875/v1 — This a preprint and has not been peer reviewed. Data may be preliminary. digeorge-syndrome-case-report-and-literature-review manuscript.pdf autoimmune-hemolytic-anemia-associated-with-vitamin-b12-deficiency-and-viral-illness-in- the of Figures vial at available https://authorea.com/users/364995/articles/509940- 6