Publications 2025

Mellor-Heineke S, Skokowa J, Gerschmann N, Deordieva E, Tesakov I, Kinsey S, Klaudel-Dreszler M, Farruggia P, Sukova M, Sundin M, El Chazli Y, Masmas TN, Willems L, Ebetsberger-Dachs G, Erichsen HC, Steinberg-Shemer O, Shcherbina A, Welte K, Zeidler C (2025)
Genetic and clinical characteristics of patients with Shwachman Diamond syndrome with special consideration of treatment with granulocyte-colony stimulating factor
Haematologica (in press)
DOI 10.3324/haematol.2024.286119, PubMed 40145295

Publications 2024

Chen R, Lukianova E, Schim van der Loeff I, Spegarova JS, Willet JDP, James KD, Ryder EJ, Griffin H, IJspeert H, Gajbhiye A, Lamoliatte F, Marin-Rubio JL, Woodbine L, Lemos H, Swan DJ, Pintar V, Sayes K, Ruiz-Morales ER, Eastham S, Dixon D, Prete M, Prigmore E, Jeggo P, Boyes J, Mellor A et al. (2024)
NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome
Sci Immunol, 9 (95), eade5705
DOI 10.1126/sciimmunol.ade5705, PubMed 38787962

Publications 2021

Berg AK, Diseth TH, Abrahamsen TG, Halvorsen K, Reinfjell T, Erichsen HC (2021)
Primary antibody deficiency: The impact on the quality of life and mental health of affected children and their parents
Acta Paediatr, 110 (5), 1645-1652
DOI 10.1111/apa.15752, PubMed 33420742

Publications 2020

Strand J, Gul KA, Erichsen HC, Lundman E, Berge MC, Trømborg AK, Sørgjerd LK, Ytre-Arne M, Hogner S, Halsne R, Gaup HJ, Osnes LT, Kro GAB, Sorte HS, Mørkrid L, Rowe AD, Tangeraas T, Jørgensen JV, Alme C, Bjørndalen TEH, Rønnestad AE, Lang AM, Rootwelt T, Buechner J, Øverland T et al. (2020)
Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency
Front Immunol, 11, 1417
DOI 10.3389/fimmu.2020.01417, PubMed 32754152

Publications 2019

Kellner ES, Krupski C, Kuehn HS, Rosenzweig SD, Yoshida N, Kojima S, Boutboul D, Latour S, Barlogis V, Galambrun C, Stray-Pedersen A, Erichsen HC, Marsh RA (2019)
Allogeneic hematopoietic stem cell transplant outcomes for patients with dominant negative IKZF1/IKAROS mutations
J Allergy Clin Immunol, 144 (1), 339-342
DOI 10.1016/j.jaci.2019.03.025, PubMed 30965037

Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Levi Mortera S, Camerini S et al. (2019)
A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function
J Exp Med, 216 (12), 2778-2799
DOI 10.1084/jem.20190147, PubMed 31601675

Volpi S, Cicalese MP, Tuijnenburg P, Tool ATJ, Cuadrado E, Abu-Halaweh M, Ahanchian H, Alzyoud R, Akdemir ZC, Barzaghi F, Blank A, Boisson B, Bottino C, Brigida I, Caorsi R, Casanova JL, Chiesa S, Chinn IK, Dückers G, Enders A, Erichsen HC, Forbes LR, Gambin T, Gattorno M, Karimiani EG et al. (2019)
A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency
J Allergy Clin Immunol, 143 (6), 2296-2299
DOI 10.1016/j.jaci.2019.02.003, PubMed 30771411

Publications 2017

Davies EG, Cheung M, Gilmour K, Maimaris J, Curry J, Furmanski A, Sebire N, Halliday N, Mengrelis K, Adams S, Bernatoniene J, Bremner R, Browning M, Devlin B, Erichsen HC, Gaspar HB, Hutchison L, Ip W, Ifversen M, Leahy TR, McCarthy E, Moshous D, Neuling K, Pac M, Papadopol A et al. (2017)
Thymus transplantation for complete DiGeorge syndrome: European experience
J Allergy Clin Immunol, 140 (6), 1660-1670.e16
DOI 10.1016/j.jaci.2017.03.020, PubMed 28400115

Publications 2016

Sorte HS, Osnes LT, Fevang B, Aukrust P, Erichsen HC, Backe PH, Abrahamsen TG, Kittang OB, Øverland T, Jhangiani SN, Muzny DM, Vigeland MD, Samarakoon P, Gambin T, Akdemir ZH, Gibbs RA, Rødningen OK, Lyle R, Lupski JR, Stray-Pedersen A (2016)
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction
Mol Genet Genomic Med, 4 (6), 604-616
DOI 10.1002/mgg3.237, PubMed 27896283

Stray-Pedersen A, Sorte HS, Samarakoon P, Gambin T, Chinn IK, Coban Akdemir ZH, Erichsen HC, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OK, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR et al. (2016)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
J Allergy Clin Immunol, 139 (1), 232-245
DOI 10.1016/j.jaci.2016.05.042, PubMed 27577878

Publications 2015

Tesi B, Lagerstedt-Robinson K, Chiang SC, Ben Bdira E, Abboud M, Belen B, Devecioglu O, Fadoo Z, Yeoh AE, Erichsen HC, Möttönen M, Akar HH, Hästbacka J, Kaya Z, Nunes S, Patiroglu T, Sabel M, Saribeyoglu ET, Tvedt TH, Unal E, Unal S, Unuvar A, Meeths M, Henter JI, Nordenskjöld M et al. (2015)
Targeted high-throughput sequencing for genetic diagnostics of hemophagocytic lymphohistiocytosis
Genome Med, 7, 130
DOI 10.1186/s13073-015-0244-1, PubMed 26684649

Publications 2014

Stray-Pedersen A, Backe PH, Sorte HS, Mørkrid L, Chokshi NY, Erichsen HC, Gambin T, Elgstøen KB, Bjørås M, Wlodarski MW, Krüger M, Jhangiani SN, Muzny DM, Patel A, Raymond KM, Sasa GS, Krance RA, Martinez CA, Abraham SM, Speckmann C, Ehl S, Hall P, Forbes LR, Merckoll E, Westvik J et al. (2014)
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia
Am J Hum Genet, 95 (1), 96-107
DOI 10.1016/j.ajhg.2014.05.007, PubMed 24931394

Publications 2008

Erichsen HC, Peters U, Eck P, Welch R, Schoen RE, Yeager M, Levine M, Hayes RB, Chanock S (2008)
Genetic variation in sodium-dependent vitamin C transporters SLC23A1 and SLC23A2 and risk of advanced colorectal adenoma
Nutr Cancer, 60 (5), 652-9
DOI 10.1080/01635580802033110, PubMed 18791929

Publications 2007

Eck P, Erichsen HC, Taylor JG, Corpe C, Chanock SJ, Levine M (2007)
Genomic and functional analysis of the sodium-dependent vitamin C transporter SLC23A1-SVCT1
Genes Nutr, 2 (1), 143-5
DOI 10.1007/s12263-007-0040-7, PubMed 18850166

Erichsen HC (2007)
Single nucleotide polymorphisms in genes encoding vitaminC transport proteins and inflammatory cytokines: risk of colon adenoma and preterm birth
In Series of dissertations submitted to the Faculty of Medicine, University of Oslo, Unipub, Oslo, no. 477, 1 b. (flere pag.)
BIBSYS 070353905, ISBN 978-82-8072-683-4

Publications 2005

Engel SA, Erichsen HC, Savitz DA, Thorp J, Chanock SJ, Olshan AF (2005)
Risk of spontaneous preterm birth is associated with common proinflammatory cytokine polymorphisms
Epidemiology, 16 (4), 469-77
DOI 10.1097/01.ede.0000164539.09250.31, PubMed 15951664

Engel SA, Olshan AF, Savitz DA, Thorp J, Erichsen HC, Chanock SJ (2005)
Risk of small-for-gestational age is associated with common anti-inflammatory cytokine polymorphisms
Epidemiology, 16 (4), 478-86
DOI 10.1097/01.ede.0000164535.36412.6b, PubMed 15951665

Erichsen HC, Engel SA, Eck PK, Welch R, Yeager M, Levine M, Siega-Riz AM, Olshan AF, Chanock SJ (2005)
Genetic variation in the sodium-dependent vitamin C transporters, SLC23A1, and SLC23A2 and risk for preterm delivery
Am J Epidemiol, 163 (3), 245-54
DOI 10.1093/aje/kwj035, PubMed 16357110

Publications 2004

Eck P, Erichsen HC, Taylor JG, Yeager M, Hughes AL, Levine M, Chanock S (2004)
Comparison of the genomic structure and variation in the two human sodium-dependent vitamin C transporters, SLC23A1 and SLC23A2
Hum Genet, 115 (4), 285-94
DOI 10.1007/s00439-004-1167-x, PubMed 15316768

Publications 2003

Choi EH, Foster CB, Taylor JG, Erichsen HC, Chen RA, Walsh TJ, Anttila VJ, Ruutu T, Palotie A, Chanock SJ (2003)
Association between chronic disseminated candidiasis in adult acute leukemia and common IL4 promoter haplotypes
J Infect Dis, 187 (7), 1153-6
DOI 10.1086/368345, PubMed 12660931