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Yu X, Almeida J, Darko S, van der Burg M, Deravin SS, Malech H, Gennery A, Chinn I, Markert ML, Douek DC, Milner JD. Human syndromes of immunodeficiency and dysregulation are characterized by distinct defects in T-cell receptor repertoire development. J Allergy Clin Immunol. 2014 Jan 7. pii: S0091-6749(13)01782-X. doi: 10.1016/j.jaci.2013.11.018.

Habel A, Herriot R, Kumararatne D, Allgrove J, Baker K, Baxendale H, Bu'lock F, Firth H, Gennery A, Holland A, Illingworth C, Mercer N, Pannebakker M, Parry A, Roberts A, Tsai-Goodman B. Towards a safety net for management of 22q11.2 deletion syndrome: guidelines for our times. Eur J Pediatr. 2014 Jan 3.

Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. J Allergy Clin Immunol. 2014 Jan 25. pii: S0091-6749(13)01908-8. doi: 10.1016/j.jaci.2013.11.038.

Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H. A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency.J Allergy Clin Immunol. 2014 Jan7. pii: S0091-6749(13)01840-X. doi: 10.1016/j.jaci.2013.11.021.

Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, Walter JE, Ehl S. Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - Contribution to new findings of immune dysregulation in connective tissue disorders. Clin Immunol. 2014 Jan;150(1):43-50. doi: 10.1016/j.clim.2013.11.008. Epub 2013 Nov 19.

Ouederni M, Sanal O, Ikinciogullari A, Tezcan I, Dogu F, Sologuren I, Pedraza-Sánchez S, Keser M, Tanir G, Nieuwhof C, Colino E, Kumararatne D, Levy J, Kutukculer N, Aytekin C, Herrera-Ramos E, Bhatti M, Karaca N, Barbouche R, Broides A, Goudouris E, Franco JL, Parvaneh N, Reisli I, Strickler A, Shcherbina A, Somer A, Segal A, Angel-Moreno A, Lezana-Fernandez JL, Bejaoui M, Bobadilla-Del Valle M, Kachboura S, Sentongo T, Ben-Mustapha I, Bustamante J, Picard C, Puel A, Boisson-Dupuis S, Abel L, Casanova JL, Rodríguez-Gallego C. Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. Clin Infect Dis. 2014 Jan;58(2):204-13. doi: 10.1093/cid/cit722. Epub 2013 Nov 1.

Chopra C, Davies G, Taylor M, Anderson M, Bainbridge S, Tighe P, McDermott EM. Immune Deficiency in Ataxia Telangiectasia - A Longitudinal Study of 44 patients. Clin Exp Immunol. 2014 Jan 6. doi: 10.1111/cei.12262.

Bigorgne AE, Farin HF, Lemoine R, Nizar M, Lambert N, Gil M, Schulz A, Philippet P, Schlesser P, Abrahamsen TG, Oymar K, Davies EG, Ellingsen CL, Leteurtre E, Moreau-Massart B, Berrebi D, Bole-Feysot C, Nischke P, Brousse N, Fischer A, Clevers H, de Saint Basile G. TTC7A mutations disrupt intestinal epithelial apicobasal polarity. J Clin Invest. 2014 Jan 2;124(1):328-37.

Puga I, Cols M, Barra CM, He B, Cassis L, Gentile M, Comerma L, Chorny A, Shan M, Xu W, Magri G, Knowles DM, Tam W, Chiu A, Bussel JB, Serrano S, Lorente JA, Bellosillo B, Lloreta J, Juanpere N, Alameda F, Baró T, de Heredia CD, Torán N, Català A, Torrebadell M, Fortuny C, Cusí V, Carreras C, Diaz GA, Blander JM, Farber CM, Silvestri G, Cunningham-Rundles C, Calvillo M, Dufour C, Notarangelo LD, Lougaris V, Plebani A, Casanova JL, Ganal SC, Diefenbach A, Aróstegui JI, Juan M, Yagüe J, Mahlaoui N, Donadieu J, Chen K, Cerutti A. Corrigendum: B cell-helper neutrophils stimulate the diversification and production of immunoglobulin in the marginal zone of the spleen. Nat Immunol. 2014 Jan 21;15(2):205. doi: 10.1038/ni0214-205a.

Xu W, Narayanan P, Kang N, Clayton S, Ohne Y, Shi P, Herve MC, Balderas R, Picard C, Casanova JL, Gorvel JP, Oh S, Pascual V, Banchereau J. Human plasma cells express granzyme B. Eur J Immunol. 2014 Jan;44(1):275-84. doi: 10.1002/eji.201343711. Epub 2013 Oct 20.

Cipe FE, Aydogmus C, Babayigit Hocaoglu A, Kilic M, Kaya GD, Yilmaz Gulec E. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency. Case Rep Pediatr. 2014;2014:614238. doi: 10.1155/2014/614238. Epub 2014 Jan 8.

Leitner NR, Lassnig C, Rom R, Heider S, Bago-Horvath Z, Eferl R, Müller S, Kolbe T, Kenner L, Rülicke T, Strobl B, Müller M. Inducible, dose-adjustable and time-restricted reconstitution of stat1 deficiency in vivo. PLoS One. 2014 Jan 29;9(1):e86608. doi: 10.1371/journal.pone.0086608.

Bodemer C, Sauvage V, Mahlaoui N, Cheval J, Couderc T, Leclerc-Mercier S, Debré M, Pellier I, Gagnieur L, Fraitag S, Fischer A, Blanche S, Lecuit M, Eloit M. Live rubella virus vaccine long-term persistence as an antigenic trigger of cutaneous granulomas in patients with primary immunodeficiency. Clin Microbiol Infect. 2014 Jan 30. doi: 10.1111/1469-0691.12573.

Das CK, Mirdha BR, Singh S, Seth R, Bagga A, Lodha R, Kabra SK. Use of Induced Sputum to Determine the Prevalence of Pneumocystis jirovecii in Immunocompromised Children With Pneumonia. J Trop Pediatr. 2014 Jan 13.

Somech R, Etzioni A. A call to include severe combined immunodeficiency in newborn screening program. Rambam Maimonides Med J. 2014 Jan 21;5(1):e0001. doi: 10.5041/RMMJ.10135.

Schuetz C, Neven B, Dvorak CC, Leroy S, Ege MJ, Pannicke U, Schwarz K, Schulz AS, Hoenig M, Sparber-Sauer M, Gatz SA, Denzer C, Blanche S, Moshous D, Picard C, Horn BN, de Villartay JP, Cavazzana M, Debatin KM, Friedrich W, Fischer A, Cowan MJ. SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID. Blood 2014 Jan 9;123(2):281-9. doi: 10.1182/blood-2013-01-476432.

Van Zelm MC, Bartol SJ, Driessen GJ, Mascart F, Reisli I, Franco JL, Wolska-Kusnierz B, Kanegane H, Boon L, van Dongen JJ, van der Burg M. Human CD19 and CD40L deficiencies impair antibody selection and differentially affect somatic hypermutation. J Allergy Clin Immunol. 2014 Jan 10. pii: S0091-6749(13)01778-8. doi: 10.1016/j.jaci.2013.11.015.

Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H. A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency. J Allergy Clin Immunol. 2014 Jan 7. pii: S0091-6749(13)01840-X. doi: 10.1016/j.jaci.2013.11.021.

Wang N, Lu P, Ling B, Zhu Z, Hammarström L. Caucasian Origin of Disease Associated HLA Haplotypes in Chinese Blood Donors with IgA Deficiency. J Clin Immunol. 2014 Jan 9.

Cabral-Marques O, Klaver S, Schimke LF, Ascendino EH, Khan TA, Pereira PV, Falcai A, Vargas-Hernández A, Santos-Argumedo L, Bezrodnik L, Moreira I,Seminario G, Di Giovanni D, Raccio AG, Porras O, Weber CW, Ferreira JF, Tavares FS, de Carvalho E, Valente CF, Kuntze G, Galicchio M, King A, Rosário-Filho NA, Grota MB, Dos Santos Vilela MM, Di Gesu RS, Lima S, de Souza Moura L, Talesnik E, Mansour E, Roxo-Junior P, Aldave JC, Goudouris E, Pinto-Mariz F,Berrón-Ruiz L, Staines-Boone T, Calderón WO, Del Carmen Zarate-Hernández M, Grumach AS, Sorensen R, Durandy A, Torgerson TR, Carvalho BT,Espinosa-Rosales F, Ochs HD, Condino-Neto A. First Report of the Hyper-IgM Syndrome Registry of the Latin American Society for Immunodeficiencies: Novel Mutations, Unique Infections, and Outcomes. J Clin Immunol. 2014 Jan 9.

Pachlopnik Schmid J, Güngör T, Seger R. Modern management of primary T-cell immunodeficiencies. Pediatr Allergy Immunol. 2014 Jan 3. doi: 10.1111/pai.12179.

Marek A, Stern M, Chalandon Y, Ansari M, Ozsahin H, Güngör T, Gerber B, Kühne T, Passweg JR, Gratwohl A, Tichelli A, Seger R, Schanz U, Halter J, Stussi G; Swiss Blood Stem Cell Transplantation. The impact of T-cell depletion techniques on the outcome after haploidentical hematopoietic SCT. Bone Marrow Transplant. 2014 Jan;49(1):55-61. doi: 10.1038/bmt.2013.132.

Sowerwine KJ, Shaw PA, Gu W, Ling JC, Collins MT, Darnell DN, Anderson VL, Davis J, Hsu A, Welch P, Puck JM, Holland SM, Freeman AF. Bone Density and Fractures in Autosomal Dominant Hyper IgE Syndrome.J Clin Immunol. 2014 Jan 9.

Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ. Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations. Blood. 2014 Jan 7.

Dhanju R, Min W,  Ackerley C, Cimpean L, Palaniyar N, Roifman CM, Grunebaum E. Pulmonary alveolar proteinosis in adenosine deaminase-deficient mice. J Allergy Clin Immunol. 2014 Jan 15. pii: S0091-6749(13)01849-6. doi: 10.1016/j.jaci.2013.11.029.

Hennig C, Ilginus C, Boztug K, Skokowa J, Marodi L, Szaflarska A, Sass M, Pignata C, Kilic SS, Caragol I, Baumann U, Klein C, Welte K, Hansen G. High-content cytometry and transcriptomic biomarker profiling of human B-cell activation. J Allergy Clin Immunol. 2014 Jan;133(1):172-80.e1-10.

Müller ML, Chiang SC, Meeths M, Tesi B, Entesarian M, Nilsson D, Wood SM, Nordenskjöld M, Henter JI, Naqvi A, Bryceson YT. An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2. Front Immunol. 2014 Jan 14;4:515. doi: 10.3389/fimmu.2013.00515.

Séïté JF, Goutsmedt C, Youinou P, Pers JO, Hillion S. Intravenous immunoglobulin induces a functional silencing program similar to anergy in human B cells. J Allergy Clin Immunol. 2014 Jan;133(1):181-8.e1-9. doi: 10.1016/j.jaci.2013.08.042.

Arkwright PD, Riley P, Hughes SM, Alachkar H, Wynn RF. Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2014 Jan;133(1):265-7. doi: 10.1016/j.jaci.2013.07.035.

Shapiro RS, Wasserman RL, Bonagura V, Gupta S. Emerging Paradigm of Primary Immunodeficiency Disease: Individualizing Immunoglobulin Dose and Delivery to Enhance Outcomes. J Clin Immunol. 2014 Jan 30.

Cochino AV, Janda A, Ravcukova B, Plaiasu V, Ochiana D, Gherghina I, Freiberger T. X-Linked agammaglobulinemia in a child with Klinefelter's syndrome. J Clin Immunol. 2014 Jan 30.

Wolach O, Kuijpers T, Ben-Ari J, Gavrieli R, Feinstein-Goren N, Alders M, Garty BZ, Wolach B. Variable Clinical expressivity of STAT3 Mutation in Hyperimmunoglobulin E Syndrome: Genetic andClinical Studies of Six Patients.J Clin Immunol. 2014 Jan 23.

Kainulainen L, Lassila O, Ruuskanen O. Cartilage-Hair Hypoplasia: Follow-Up of Immunodeficiency in Two Patients. J Clin Immunol. 2014 Jan 9.

Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, Avery DT, Moens L, Cannons JL, Biancalana M, Stoddard J, Ouyang W, Frucht DM, Rao VK, Atkinson TP, Agharahimi A, Hussey AA, Folio LR, Olivier KN, Fleisher TA, Pittaluga S, Holland SM, Cohen JI, Oliveira JB, Tangye SG, Schwartzberg PL, Lenardo MJ, Uzel G. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol. 2014 Jan;15(1):88-97. doi: 10.1038/ni.2771.

Cunha C, Aversa F, Lacerda JF, Busca A, Kurzai O, Grube M, Löffler J, Maertens JA, Bell AS, Inforzato A, Barbati E, Almeida B, Santos e Sousa P, Barbui A, Potenza L, Caira M, Rodrigues F, Salvatori G, Pagano L, Luppi M, Mantovani A, Velardi A, Romani L, Carvalho A. Genetic PTX3 deficiency and aspergillosis in stem-cell transplantation. N Engl J Med. 2014 Jan 30;370(5):421-32. doi: 10.1056/NEJMoa1211161.