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B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

MedGen UID:
992596
•Concept ID:
CN312549
•
Disease or Syndrome
Synonyms: BILU syndrome; Hoffman syndrome
 
Monarch Initiative: MONDO:0035454
Orphanet: ORPHA567502

Definition

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by almost complete lack of B-cells and severe hypogammaglobulinemia, anomalies of the hands and feet, urogenital malformations, and characteristic facial dysmorphism (including microcephaly, highly arched eyebrows, hypoplastic alae nasi, and micrognathia). Most patients are developmentally normal, although moderate mental retardation has also been described. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVB-cell immunodeficiency-limb anomaly-urogenital malformation syndrome

Professional guidelines

PubMed

Optimal management of the young patient CLL patient.
Allan JN, Furman RR
Best Pract Res Clin Haematol 2018 Mar;31(1):73-82. Epub 2017 Nov 20 doi: 10.1016/j.beha.2017.10.012. PMID: 29452669
Chronic lymphocytic leukemia: 2017 update on diagnosis, risk stratification, and treatment.
Hallek M
Am J Hematol 2017 Sep;92(9):946-965. doi: 10.1002/ajh.24826. PMID: 28782884
New advances in the diagnosis and treatment of POEMS syndrome.
Li J, Zhou DB
Br J Haematol 2013 May;161(3):303-15. Epub 2013 Feb 8 doi: 10.1111/bjh.12236. PMID: 23398538

Recent clinical studies

Etiology

Causal association of immune cells and polycystic ovarian syndrome: a Mendelian randomization study.
Aru N, Yang C, Chen Y, Liu J
Front Endocrinol (Lausanne) 2023;14:1326344. Epub 2023 Dec 22 doi: 10.3389/fendo.2023.1326344. PMID: 38189053Free PMC Article
Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases.
Ballow M, Sánchez-Ramón S, Walter JE
Front Immunol 2022;13:928062. Epub 2022 Jul 18 doi: 10.3389/fimmu.2022.928062. PMID: 35924244Free PMC Article
The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Multiple sclerosis.
Thompson AJ, Baranzini SE, Geurts J, Hemmer B, Ciccarelli O
Lancet 2018 Apr 21;391(10130):1622-1636. Epub 2018 Mar 23 doi: 10.1016/S0140-6736(18)30481-1. PMID: 29576504
Ligase IV syndrome.
Chistiakov DA
Adv Exp Med Biol 2010;685:175-85. doi: 10.1007/978-1-4419-6448-9_16. PMID: 20687505

Diagnosis

Secondary Immune Deficiency and Primary Immune Deficiency Crossovers: Hematological Malignancies and Autoimmune Diseases.
Ballow M, Sánchez-Ramón S, Walter JE
Front Immunol 2022;13:928062. Epub 2022 Jul 18 doi: 10.3389/fimmu.2022.928062. PMID: 35924244Free PMC Article
The genetic landscape of germline DDX41 variants predisposing to myeloid neoplasms.
Li P, Brown S, Williams M, White T, Xie W, Cui W, Peker D, Lei L, Kunder CA, Wang HY, Murray SS, Vagher J, Kovacsovics T, Patel JL
Blood 2022 Aug 18;140(7):716-755. doi: 10.1182/blood.2021015135. PMID: 35671390Free PMC Article
Multiple sclerosis.
Thompson AJ, Baranzini SE, Geurts J, Hemmer B, Ciccarelli O
Lancet 2018 Apr 21;391(10130):1622-1636. Epub 2018 Mar 23 doi: 10.1016/S0140-6736(18)30481-1. PMID: 29576504
Immunodeficiency in CHARGE syndrome.
Mehr S, Hsu P, Campbell D
Am J Med Genet C Semin Med Genet 2017 Dec;175(4):516-523. Epub 2017 Nov 21 doi: 10.1002/ajmg.c.31594. PMID: 29159871
Regulation of the MIR155 host gene in physiological and pathological processes.
Elton TS, Selemon H, Elton SM, Parinandi NL
Gene 2013 Dec 10;532(1):1-12. Epub 2012 Dec 14 doi: 10.1016/j.gene.2012.12.009. PMID: 23246696

Therapy

Causal association of immune cells and polycystic ovarian syndrome: a Mendelian randomization study.
Aru N, Yang C, Chen Y, Liu J
Front Endocrinol (Lausanne) 2023;14:1326344. Epub 2023 Dec 22 doi: 10.3389/fendo.2023.1326344. PMID: 38189053Free PMC Article
Blinatumomab in pediatric relapsed/refractory B-cell acute lymphoblastic leukemia: RIALTO expanded access study final analysis.
Locatelli F, Zugmaier G, Mergen N, Bader P, Jeha S, Schlegel PG, Bourquin JP, Handgretinger R, Brethon B, Rössig C, Kormany WN, Viswagnachar P, Chen-Santel C
Blood Adv 2022 Feb 8;6(3):1004-1014. doi: 10.1182/bloodadvances.2021005579. PMID: 34979020Free PMC Article
POEMS Syndrome: Diagnosis and Investigative Work-up.
Dispenzieri A, Kourelis T, Buadi F
Hematol Oncol Clin North Am 2018 Feb;32(1):119-139. doi: 10.1016/j.hoc.2017.09.010. PMID: 29157614
FDA Approval: Blinatumomab.
Przepiorka D, Ko CW, Deisseroth A, Yancey CL, Candau-Chacon R, Chiu HJ, Gehrke BJ, Gomez-Broughton C, Kane RC, Kirshner S, Mehrotra N, Ricks TK, Schmiel D, Song P, Zhao P, Zhou Q, Farrell AT, Pazdur R
Clin Cancer Res 2015 Sep 15;21(18):4035-9. doi: 10.1158/1078-0432.CCR-15-0612. PMID: 26374073
Dyskeratosis congenita.
Gupta V, Kumar A
Adv Exp Med Biol 2010;685:215-9. doi: 10.1007/978-1-4419-6448-9_20. PMID: 20687509

Prognosis

Causal association of immune cells and polycystic ovarian syndrome: a Mendelian randomization study.
Aru N, Yang C, Chen Y, Liu J
Front Endocrinol (Lausanne) 2023;14:1326344. Epub 2023 Dec 22 doi: 10.3389/fendo.2023.1326344. PMID: 38189053Free PMC Article
Cytogenetics in the genomic era.
Granada I, Palomo L, Ruiz-Xivillé N, Mallo M, Solé F
Best Pract Res Clin Haematol 2020 Sep;33(3):101196. Epub 2020 Jun 4 doi: 10.1016/j.beha.2020.101196. PMID: 33038985
Multiple sclerosis.
Thompson AJ, Baranzini SE, Geurts J, Hemmer B, Ciccarelli O
Lancet 2018 Apr 21;391(10130):1622-1636. Epub 2018 Mar 23 doi: 10.1016/S0140-6736(18)30481-1. PMID: 29576504
B-cell receptor repertoire sequencing in patients with primary immunodeficiency: a review.
Ghraichy M, Galson JD, Kelly DF, Trück J
Immunology 2018 Feb;153(2):145-160. Epub 2017 Dec 18 doi: 10.1111/imm.12865. PMID: 29140551Free PMC Article
Al amyloidosis.
Desport E, Bridoux F, Sirac C, Delbes S, Bender S, Fernandez B, Quellard N, Lacombe C, Goujon JM, Lavergne D, Abraham J, Touchard G, Fermand JP, Jaccard A; Centre national de référence pour l’amylose AL et les autres maladies par dépôts d’immunoglobulines monoclonales
Orphanet J Rare Dis 2012 Aug 21;7:54. doi: 10.1186/1750-1172-7-54. PMID: 22909024Free PMC Article

Clinical prediction guides

Causal association of immune cells and polycystic ovarian syndrome: a Mendelian randomization study.
Aru N, Yang C, Chen Y, Liu J
Front Endocrinol (Lausanne) 2023;14:1326344. Epub 2023 Dec 22 doi: 10.3389/fendo.2023.1326344. PMID: 38189053Free PMC Article
Autoimmunity and immunodeficiency associated with monoallelic LIG4 mutations via haploinsufficiency.
Jauch AJ, Bignucolo O, Seki S, Ghraichy M, Delmonte OM, von Niederhäusern V, Higgins R, Ghosh A, Nishizawa M, Tanaka M, Baldrich A, Köppen J, Hirsiger JR, Hupfer R, Ehl S, Rensing-Ehl A, Hopfer H, Prince SS, Daley SR, Marquardsen FA, Meyer BJ, Tamm M, Daikeler TD, Diesch T, Kühne T, Helbling A, Berkemeier C, Heijnen I, Navarini AA, Trück J, de Villartay JP, Oxenius A, Berger CT, Hess C, Notarangelo LD, Yamamoto H, Recher M
J Allergy Clin Immunol 2023 Aug;152(2):500-516. Epub 2023 Mar 31 doi: 10.1016/j.jaci.2023.03.022. PMID: 37004747Free PMC Article
β-Coronaviruses Use Lysosomes for Egress Instead of the Biosynthetic Secretory Pathway.
Ghosh S, Dellibovi-Ragheb TA, Kerviel A, Pak E, Qiu Q, Fisher M, Takvorian PM, Bleck C, Hsu VW, Fehr AR, Perlman S, Achar SR, Straus MR, Whittaker GR, de Haan CAM, Kehrl J, Altan-Bonnet G, Altan-Bonnet N
Cell 2020 Dec 10;183(6):1520-1535.e14. Epub 2020 Oct 27 doi: 10.1016/j.cell.2020.10.039. PMID: 33157038Free PMC Article
DOCK8 deficiency.
Su HC, Jing H, Zhang Q
Ann N Y Acad Sci 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. PMID: 22236427
Infections and immunodeficiency in Down syndrome.
Ram G, Chinen J
Clin Exp Immunol 2011 Apr;164(1):9-16. Epub 2011 Feb 24 doi: 10.1111/j.1365-2249.2011.04335.x. PMID: 21352207Free PMC Article

Recent systematic reviews

Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Maccora I, Ramanan AV, Wiseman D, Marrani E, Mastrolia MV, Simonini G
J Clin Immunol 2023 Jan;43(1):1-30. Epub 2022 Aug 19 doi: 10.1007/s10875-022-01343-0. PMID: 35984545Free PMC Article
Tooth agenesis and orofacial clefting: genetic brothers in arms?
Phan M, Conte F, Khandelwal KD, Ockeloen CW, Bartzela T, Kleefstra T, van Bokhoven H, Rubini M, Zhou H, Carels CE
Hum Genet 2016 Dec;135(12):1299-1327. Epub 2016 Oct 3 doi: 10.1007/s00439-016-1733-z. PMID: 27699475Free PMC Article
The etiologies of non-CF bronchiectasis in childhood: a systematic review of 989 subjects.
Brower KS, Del Vecchio MT, Aronoff SC
BMC Pediatr 2014 Dec 10;14:4. doi: 10.1186/s12887-014-0299-y. PMID: 25492164Free PMC Article
Mucosal inflammation as a potential etiological factor in irritable bowel syndrome: a systematic review.
Ford AC, Talley NJ
J Gastroenterol 2011 Apr;46(4):421-31. Epub 2011 Feb 18 doi: 10.1007/s00535-011-0379-9. PMID: 21331765

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