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R. Bacchetta, F. Barzaghi, M. Roncarolo (2018)
From IPEX syndrome to FOXP3 mutation: a lesson on immune dysregulationAnnals of the New York Academy of Sciences, 1417
Jocelyn Farmer, Z. Foldvari, B. Ujházi, S. Ravin, Karin Chen, J. Bleesing, C. Schuetz, W. Al-Herz, R. Abraham, A. Joshi, B. Costa-Carvalho, D. Buchbinder, C. Booth, A. Reiff, P. Ferguson, A. Aghamohammadi, Hassan Abolhassani, J. Puck, M. Adeli, C. Cancrini, P. Palma, A. Bertaina, F. Locatelli, G. Matteo, R. Geha, M. Kanariou, L. Lycopoulou, M. Tzanoudaki, J. Sleasman, S. Parikh, Gloria Pinero, Bernard Fischer, G. Dbaibo, E. Unal, T. Patiroglu, M. Karakukcu, K. Al-Saad, M. Dilley, S. Pai, C. Dutmer, E. Gelfand, C. Geier, M. Eibl, H. Wolf, L. Henderson, Melissa Hazen, C. Bonfim, B. Wolska-Kusnierz, M. Butte, Joseph Hernandez, S. Nicholas, P. Stepensky, S. Chandrakasan, M. Miano, E. Westermann-Clark, V. Goda, G. Kriván, S. Holland, O. Fadugba, S. Henrickson, A. Ozen, E. Karakoc‐Aydiner, S. Barış, A. Kıykım, R. Bredius, B. Hoeger, K. Boztug, O. Pashchenko, B. Neven, D. Moshous, J. Villartay, A. Bousfiha, H. Hill, L. Notarangelo, J. Walter (2019)
Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.The journal of allergy and clinical immunology. In practice
C. Cale, L. Morton, D. Goldblatt (2007)
Cutaneous and other lupus‐like symptoms in carriers of X‐linked chronic granulomatous disease: incidence and autoimmune serologyClinical & Experimental Immunology, 148
M. Gutierrez, K. Sullivan, R. Fuleihan, C. Bingham (2018)
Phenotypic characterization of patients with rheumatologic manifestations of common variable immunodeficiency.Seminars in arthritis and rheumatism, 48 2
J. Winkelstein, M. Marino, H. Lederman, S. Jones, K. Sullivan, A. Burks, M. Conley, C. Cunningham-Rundles, H. Ochs (2006)
X-Linked Agammaglobulinemia: Report on a United States Registry of 201 PatientsMedicine, 85
D. Montin, A. Marolda, F. Licciardi, Francesca Robasto, S. Cesare, E. Ricotti, F. Ferro, G. Scaioli, C. Giancotta, D. Amodio, F. Conti, G. Giardino, L. Leonardi, S. Ricci, S. Volpi, L. Baselli, C. Azzari, G. Bossi, R. Consolini, R. Dellepiane, M. Duse, M. Gattorno, B. Martire, M. Putti, A. Soresina, A. Plebani, U. Ramenghi, S. Martino, C. Pignata, C. Cancrini (2019)
Immunophenotype Anomalies Predict the Development of Autoimmune Cytopenia in 22q11.2 Deletion Syndrome.The journal of allergy and clinical immunology. In practice
Kevin Wu, P. Purswani, B. Ujházi, K. Csomos, Mihailova Snezhina, Naumova Elissaveta, S. Stefanov, S. Sharapova, M. Ellison, D. Milojevic, S. Savic, R. Sargur, J. Walter (2019)
Arthritis in Two Patients With Partial Recombination Activating Gene DeficiencyFrontiers in Pediatrics, 7
T. Coulter, Anita Chandra, C. Bacon, J. Babar, J. Curtis, N. Screaton, J. Goodlad, George Farmer, C. Steele, T. Leahy, R. Doffinger, H. Baxendale, J. Bernatoniene, J. Edgar, H. Longhurst, S. Ehl, C. Speckmann, B. Grimbacher, A. Šedivá, Tomáš Milota, S. Faust, Anthony Williams, G. Hayman, Z. Kucuk, P. French, R. Brooker, R. Herriot, C. Cancrini, P. Palma, P. Ariganello, N. Conlon, C. Feighery, P. Gavin, A. Jones, K. Imai, M. Ibrahim, S. Markelj, M. Abinun, S. Nejentsev (2017)
Immune deficiencies , infection , and systemic immune disorders Clinical spectrum and features of activated phosphoinositide 3-kinase d syndrome : A large patient cohort study
(2015)
Autoimmune disease patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to aba- tacept therapy
Somech (2009)
Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cellsJ Allergy Clin Immunol, 124
S. Gadola, Hélène Moins-Teisserenc, John Trowsdale, Wolfgang Gross, Vincenzo Cerundolo (2000)
TAP deficiency syndromeClinical & Experimental Immunology, 121
H. Ochs, D. Hagin (2014)
Primary immunodeficiency disorders: general classification, new molecular insights, and practical approach to diagnosis and treatment.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology, 112 6
This cohort study reported the safety and potential efficacy of JAK inhibitors for the treatment of patients with gain-of-function STAT1 or STAT3-associated disease
Low copy numbers of complement C 4 and homozygous deficiency of C 4 A may predispose to severe disease and earlier disease onset in patients with systemic
(2015)
The Study of Rheumatic Diseases in Childhood and Adolescence
B. Tison, S. Nicholas, S. Abramson, I. Hanson, M. Paul, F. Seeborg, W. Shearer, M. Pérez, L. Noroski, J. Chinen (2011)
Autoimmunity in a cohort of 130 pediatric patients with partial DiGeorge syndrome.The Journal of allergy and clinical immunology, 128 5
Sangmoon Lee, J. Moon, Cho-Rong Lee, Hye-Eun Kim, Sun-Mi Baek, Solha Hwang, G. Kang, J. Seo, C. Shin, H. Kang, J. Ko, Sung Park, Murim Choi (2016)
Abatacept alleviates severe autoimmune symptoms in a patient carrying a de novo variant in CTLA-4.The Journal of allergy and clinical immunology, 137 1
H. Kuehn, W. Ouyang, Bernice Lo, E. Deenick, J. Niemela, D. Avery, J. Schickel, D. Tran, J. Stoddard, Yu Zhang, D. Frucht, B. Dumitriu, P. Scheinberg, L. Folio, C. Frein, S. Price, C. Koh, T. Heller, C. Seroogy, A. Huttenlocher, V. Rao, H. Su, D. Kleiner, L. Notarangelo, Yajesh Rampertaap, K. Olivier, J. McElwee, J. Hughes, S. Pittaluga, J. Oliveira, E. Meffre, T. Fleisher, S. Holland, M. Lenardo, S. Tangye, G. Uzel (2014)
Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4Science, 345
Markert (1991)
Purine nucleoside phosphorylase deficiencyImmunodefic Rev, 3
Schubert (2014)
Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutationsNat Med, 20
A. Arduini, E. Marasco, G. Marucci, M. Pardeo, A. Insalaco, I. Caiello, G. Moneta, G. Prencipe, F. Benedetti, C. Bracaglia (2019)
An unusual presentation of purine nucleoside phosphorylase deficiency mimicking systemic juvenile idiopathic arthritis complicated by macrophage activation syndromePediatric Rheumatology Online Journal, 17
V. Rao, Sharon Webster, V. Dalm, A. Šedivá, P. Hagen, S. Holland, Sergio Rosenzweig, Andreas Christ, B. Sloth, M. Cabański, Aniket Joshi, S. Buck, J. Doucet, D. Guerini, C. Kalis, I. Pylvaenaeinen, Nicolas Soldermann, Anuj Kashyap, G. Uzel, Michael Lenardo, Dhavalkumar Patel, Carrie Lucas, C. Burkhart (2017)
Effective "activated PI3Kδ syndrome"-targeted therapy with the PI3Kδ inhibitor leniolisib.Blood, 130 21
Batsukh Dorjbal, J. Stinson, Chi Ma, M. Weinreich, Bahar Miraghazadeh, J. Hartberger, Stefanie Frey-Jakobs, S. Weidinger, L. Moebus, A. Franke, A. Schäffer, A. Bulashevska, S. Fuchs, S. Ehl, S. Limaye, P. Arkwright, T. Briggs, Claire Langley, C. Bethune, A. Whyte, H. Alachkar, S. Nejentsev, T. DiMaggio, Celeste Nelson, K. Stone, M. Nason, E. Brittain, Andrew Oler, Daniel Veltri, R. Leahy, N. Conlon, M. Poli, A. Borzutzky, J. Cohen, Joie Davis, Michele Lambert, N. Romberg, K. Sullivan, K. Paris, A. Freeman, Laura Lucas, S. Chandrakasan, S. Savic, S. Hambleton, Smita Patel, M. Jordan, A. Theos, J. Lebensburger, Prescott Atkinson, T. Torgerson, I. Chinn, J. Milner, B. Grimbacher, M. Cook, A. Snow (2019)
Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic diseaseThe Journal of Allergy and Clinical Immunology, 143
D. Bogaert, M. Dullaers, B. Lambrecht, K. Vermaelen, E. Baere, F. Haerynck (2016)
Genes associated with common variable immunodeficiency: one diagnosis to rule them all?Journal of Medical Genetics, 53
A. Hirbod‐Mobarakeh, A. Aghamohammadi, N. Rezaei (2014)
Immunoglobulin class switch recombination deficiency type 1 or CD40 ligand deficiency: from bedside to bench and back againExpert Review of Clinical Immunology, 10
L. Notarangelo, G. Stoppoloni, R. Toraldo, E. Mazzolari, A. Coletta, P. Airó, C. Bordignon, A. Ugazio (1992)
Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiencyEuropean Journal of Pediatrics, 151
H. Chapel, M. Lucas, Smita Patel, M. Lee, C. Cunningham-Rundles, E. Resnick, L. Gérard, É. Oksenhendler (2012)
Confirmation and improvement of criteria for clinical phenotyping in common variable immunodeficiency disorders in replicate cohorts.The Journal of allergy and clinical immunology, 130 5
B. Neven, A. Magerus-Chatinet, B. Florkin, D. Gobert, O. Lambotte, L. Somer, Nina Lanzarotti, M. Stolzenberg, B. Bader-Meunier, N. Aladjidi, C. Chantrain, Y. Bertrand, E. Jeziorski, G. Leverger, G. Michel, F. Suarez, É. Oksenhendler, O. Hermine, S. Blanche, C. Picard, A. Fischer, F. Rieux-Laucat (2011)
A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.Blood, 118 18
(2016)
Protein kinase C delta: a gate- keeper of immune homeostasis
V. Modell, J. Orange, J. Quinn, F. Modell (2018)
Global report on primary immunodeficiencies: 2018 update from the Jeffrey Modell Centers Network on disease classification, regional trends, treatment modalities, and physician reported outcomesImmunologic Research, 66
(2018)
erythematosus
R. Somech, A. Simon, A. Lev, I. Dalal, Z. Spirer, I. Goldstein, M. Nagar, N. Amariglio, G. Rechavi, C. Roifman (2009)
Immune deficiencies , infection , and systemic immune disorders Reduced central tolerance in Omenn syndrome leads to immature self-reactive oligoclonal T cells
M. Jamee, Shakiba Moniri, M. Zaki-Dizaji, P. Olbrich, R. Yazdani, F. Jadidi‐Niaragh, F. Aghamahdi, Hassan Abolhassani, A. Condliffe, A. Aghamohammadi, G. Azizi (2019)
Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic ReviewClinical Reviews in Allergy & Immunology
U. Salzer, C. Bacchelli, S. Buckridge, Q. Pan-Hammarström, Stephanie Jennings, V. Lougaris, A. Bergbreiter, T. Hagena, Jennifer Birmelin, A. Plebani, A. Webster, H. Peter, D. Suez, H. Chapel, A. Mclean-Tooke, G. Spickett, Stephanie Anover-Sombke, H. Ochs, S. Urschel, B. Belohradsky, S. Ugrinovic, D. Kumararatne, T. Lawrence, A. Holm, J. Franco, I. Schulze, P. Schneider, E. Gertz, A. Schäffer, L. Hammarström, A. Thrasher, H. Gaspar, B. Grimbacher (2008)
Relevance of biallelic versus monoallelic TNFRSF13B mutations in distinguishing disease-causing from risk-increasing TNFRSF13B variants in antibody deficiency syndromes.Blood, 113 9
Elodie Elkaim, B. Neven, J. Bruneau, Kanako Mitsui-Sekinaka, Aurélie Stanislas, L. Heurtier, C. Lucas, H. Matthews, Marie-Céline Deau, S. Sharapova, J. Curtis, J. Reichenbach, C. Glastre, D. Parry, G. Arumugakani, E. McDermott, S. Kilic, Motoi Yamashita, D. Moshous, Hicham Lamrini, B. Otremba, A. Gennery, T. Coulter, I. Quinti, J. Stéphan, V. Lougaris, N. Brodszki, V. Barlogis, Takaki Asano, L. Galicier, D. Boutboul, S. Nonoyama, A. Cant, K. Imai, C. Picard, S. Nejentsev, T. Molina, M. Lenardo, S. Savic, M. Cavazzana, A. Fischer, A. Durandy, S. Kracker (2016)
Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.The Journal of allergy and clinical immunology, 138 1
J. Toubiana, S. Okada, J. Hiller, M. Oleastro, Macarena Gómez, J. Becerra, M. Ouachée-Chardin, F. Fouyssac, K. Girisha, Amos Etzioni, J. Montfrans, Y. Camcıoğlu, L. Kerns, B. Belohradsky, S. Blanche, A. Bousfiha, C. Rodríguez-Gallego, I. Meyts, K. Kisand, J. Reichenbach, E. Renner, S. Rosenzweig, B. Grimbacher, F. Veerdonk, C. Traidl‐Hoffmann, C. Picard, L. Maródi, T. Morio, Masao Kobayashi, D. Lilić, J. Milner, S. Holland, J. Casanova, A. Puel (2016)
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.Blood, 127 25
J. Walter, F. Rucci, L. Patrizi, M. Recher, S. Regenass, T. Paganini, Marton Keszei, Itai Pessach, P. Lang, P. Poliani, S. Giliani, W. Al-Herz, M. Cowan, J. Puck, J. Bleesing, T. Niehues, C. Schuetz, H. Malech, S. DeRavin, F. Facchetti, A. Gennery, Emma-Maria Andersson, N. Kamani, J. Sekiguchi, Hamid Alenezi, J. Chinen, G. Dbaibo, G. Elghazali, A. Fontana, S. Pašić, Cynthia Detre, C. Terhorst, F. Alt, L. Notarangelo (2010)
Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiencyThe Journal of Experimental Medicine, 207
Elise Ferré, S. Rose, S. Rosenzweig, P. Burbelo, Kimberly Romito, J. Niemela, Lindsey Rosen, Timothy Break, Wenjuan Gu, S. Hunsberger, S. Browne, A. Hsu, Shakuntala Rampertaap, M. Swamydas, Amanda Collar, H. Kong, C. Lee, D. Chascsa, Thomas Simcox, A. Pham, Anamaria Bondici, Mukil Natarajan, Joseph Monsale, D. Kleiner, M. Quezado, I. Alevizos, N. Moutsopoulos, Lynne Yockey, C. Frein, A. Soldatos, K. Calvo, J. Adjemian, M. Similuk, D. Lang, K. Stone, G. Uzel, J. Kopp, R. Bishop, S. Holland, K. Olivier, T. Fleisher, T. Heller, K. Winer, M. Lionakis (2016)
Redefined clinical features and diagnostic criteria in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy.JCI insight, 1 13
M. Jüptner, Friederike Flachsbart, Amke Caliebe, Wolfgang Lieb, Stefan Schreiber, R. Zeuner, Andre Franke, Johann Schröder (2017)
Low copy numbers of complement C4 and homozygous deficiency of C4A may predispose to severe disease and earlier disease onset in patients with systemic lupus erythematosusLupus, 27
H. Ochs (1998)
The Wiskott-Aldrich syndromeSpringer Seminars in Immunopathology, 19
K. Todoric, Jessica Koontz, Daniel Mattox, T. Tarrant (2013)
Autoimmunity in ImmunodeficiencyCurrent Allergy and Asthma Reports, 13
F. Veerdonk, T. Plantinga, A. Hoischen, S. Smeekens, L. Joosten, C. Gilissen, P. Arts, D. Rosentul, A. Carmichael, C. Graaf, B. Kullberg, J. Meer, D. Lilić, J. Veltman, M. Netea (2011)
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.The New England journal of medicine, 365 1
A. Kıykım, I. Ogulur, E. Dursun, L. Charbonnier, Ercan Nain, Ş. Çekiç, D. Doğruel, N. Karaca, M. Cogurlu, O. Bilir, M. Cansever, Hasan Kapaklı, D. Başer, Nurhan Kasap, Ş. Kutluǧ, D. Altintas, A. Al-Shaibi, N. Agrebi, Manolya Kara, A. Guven, A. Somer, Ç. Aydoğmuş, N. Ayaz, A. Metin, M. Aydogan, A. Uncuoglu, T. Patiroglu, A. Yıldıran, S. Guner, S. Keleş, I. Reisli, G. Aksu, N. Kutukculer, S. Kilic, M. Yılmaz, E. Karakoc‐Aydiner, Bernice Lo, A. Ozen, T. Chatila, S. Barış (2019)
Abatacept as a Long-Term Targeted Therapy for LRBA Deficiency.The journal of allergy and clinical immunology. In practice
B. Gathmann, N. Mahlaoui, L. Gérard, É. Oksenhendler, K. Warnatz, I. Schulze, G. Kindle, T. Kuijpers, R. Beem, D. Guzman, S. Workman, P. Soler-Palacín, J. Gracia, T. Witte, R. Schmidt, J. Litzman, E. Hlavackova, V. Thon, M. Borte, S. Borte, D. Kumararatne, C. Feighery, H. Longhurst, M. Helbert, A. Szaflarska, A. Šedivá, B. Belohradsky, A. Jones, U. Baumann, I. Meyts, N. Kutukculer, P. Wågström, N. Galal, J. Roesler, E. Farmaki, N. Zinovieva, P. Ciznar, E. Papadopoulou-Alataki, K. Bienemann, S. Velbri, Z. Panahloo, B. Grimbacher (2014)
Clinical picture and treatment of 2212 patients with common variable immunodeficiency.The Journal of allergy and clinical immunology, 134 1
Alangari (2012)
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiencyJ Allergy Clin Immunol, 130
S. Perazzio, T. Torgerson, L. Andrade (2021)
Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) SyndromeGenetic Syndromes
Beatriz Marciano, C. Zerbe, Liana Falcone, L. Ding, S. DeRavin, Janine Daub, Samantha Kreuzburg, Lynne Yockey, S. Hunsberger, L. Foruraghi, L. Barnhart, K. Matharu, V. Anderson, D. Darnell, C. Frein, D. Fink, K. Lau, D. Priel, J. Gallin, H. Malech, G. Uzel, A. Freeman, D. Kuhns, S. Rosenzweig, S. Holland (2018)
X‐linked carriers of chronic granulomatous disease: Illness, lyonization, and stabilityThe Journal of Allergy and Clinical Immunology, 141
S. Sharapova, I. Guryanova, O. Pashchenko, I. Kondratenko, L. Kostyuchenko, Yulia Rodina, T. Varlamova, A. Bondarenko, L. Chernyshova, Marina Gyseva, M. Belevtsev, N. Minakovskaya, O. Aleinikova (2015)
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)Journal of Clinical Immunology, 36
A. Caudy, Sreelatha Reddy, T. Chatila, J. Atkinson, J. Verbsky (2007)
CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like syndrome, and defective IL-10 expression from CD4 lymphocytes.The Journal of allergy and clinical immunology, 119 2
(1970)
This study highlights that a diagnosis of RAG deficiency is frequently delayed in patients presenting with autoimmunity or hyperinflammation
Coulter (2017)
Clinical spectrum and features of activated phosphoinositide 3-kinase delta syndrome: a large patient cohort studyJ Allergy Clin Immunol, 139
K. Weinacht, L. Charbonnier, Fayhan Alroqi, Ashley Plant, Q. Qiao, Hao Wu, Clement Ma, T. Torgerson, S. Rosenzweig, T. Fleisher, L. Notarangelo, I. Hanson, L. Forbes, T. Chatila
Immune deficiencies , infection , and systemic immune disorders Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 ( STAT 1 ) gain-of-function mutation
T. Fleisher (2015)
Newborn Screening for Severe Combined Immunodeficiency in 11 Screening Programs in the United StatesPediatrics, 136
A. Geer, A. Nieto-Patlán, D. Kuhns, A. Tool, A. Arias, M. Bouaziz, M. Boer, J. Franco, R. Gazendam, J. Hamme, M. Houdt, K. Leeuwen, P. Verkuijlen, T. Berg, J. Alzate, Carlos Arango-Franco, V. Batura, A. Bernasconi, Barbara Boardman, C. Booth, S. Burns, Felipe Cabarcas, N. Bensussan, F. Charbit-Henrion, A. Corveleyn, C. Deswarte, M. Azcoiti, D. Foell, J. Gallin, C. Garcés, M. Guedes, C. Hinze, S. Holland, S. Hughes, P. Ibáñez, H. Malech, I. Meyts, M. Moncada-Velez, K. Moriya, Esmeralda Neves, M. Oleastro, Laura Perez, Vimel Rattina, Carmen Oleaga-Quintas, N. Warner, A. Muise, Jeanette López, E. Trindade, Júlia Vasconcelos, S. Vermeire, H. Wittkowski, A. Worth, L. Abel, M. Dinauer, P. Arkwright, D. Roos, J. Casanova, T. Kuijpers, J. Bustamante (2018)
Inherited p40phox deficiency differs from classic chronic granulomatous diseaseJournal of Clinical Investigation, 128
(2000)
TAP deficiency syn- drome
E. Salzer, E. Santos-Valente, Stefanie Klaver, Sol Ban, W. Emminger, Nina Prengemann, W. Garncarz, L. Müllauer, R. Kain, H. Boztug, A. Heitger, K. Arbeiter, F. Eitelberger, M. Seidel, W. Holter, A. Pollak, W. Pickl, E. Förster-Waldl, K. Boztug (2013)
B-cell deficiency and severe autoimmunity caused by deficiency of protein kinase C δ.Blood, 121 16
A. Magnani, P. Brosselin, J. Beaute, N. Vergnes, R. Mouy, M. Debré, F. Suarez, O. Hermine, O. Lortholary, S. Blanche, A. Fischer, N. Mahlaoui (2014)
Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease.The Journal of allergy and clinical immunology, 134 3
(2013)
Autoimmunity in immunodefi- ciency
B. Cassani, P. Poliani, D. Moratto, C. Sobacchi, V. Marrella, L. Imperatori, D. Vairo, A. Plebani, S. Giliani, P. Vezzoni, F. Facchetti, F. Porta, L. Notarangelo, A. Villa, R. Badolato (2010)
Defect of regulatory T cells in patients with Omenn syndrome.The Journal of allergy and clinical immunology, 125 1
A. Fabre, S. Marchal, V. Barlogis, B. Mari, P. Barbry, P. Rohrlich, L. Forbes, T. Vogel, L. Giovannini-Chami (2019)
Clinical Aspects of STAT3 Gain-of-Function Germline Mutations: A Systematic Review.The journal of allergy and clinical immunology. In practice
G. Azizi, F. Kiaee, E. Hedayat, R. Yazdani, E. Dolatshahi, T. Alinia, L. Sharifi, H. Mohammadi, H. Kavosi, F. Jadidi‐Niaragh, V. Ziaee, Hassan Abolhassani, A. Aghamohammadi (2018)
Rheumatologic complications in a cohort of 227 patients with common variable immunodeficiencyScandinavian Journal of Immunology, 87
J. Schepp, J. Chou, A. Skrabl-Baumgartner, P. Arkwright, Karin Engelhardt, S. Hambleton, T. Morio, E. Röther, K. Warnatz, R. Geha, B. Grimbacher (2017)
14 Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator DeficiencyFrontiers in Immunology, 8
(2013)
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase defi- ciencies
J. Walter, Lindsey Rosen, K. Csomos, Jacob Rosenberg, D. Mathew, Marton Keszei, B. Ujházi, Karin Chen, Y. Lee, I. Tirosh, K. Dobbs, W. Al-Herz, M. Cowan, J. Puck, J. Bleesing, M. Grimley, H. Malech, S. Ravin, A. Gennery, R. Abraham, A. Joshi, T. Boyce, M. Butte, K. Nadeau, I. Balboni, K. Sullivan, J. Akhter, M. Adeli, R. El-Feky, D. El-Ghoneimy, G. Dbaibo, R. Wakim, C. Azzari, P. Palma, C. Cancrini, Kelly Capuder, A. Condino-Neto, B. Costa-Carvalho, J. Oliveira, C. Roifman, D. Buchbinder, A. Kumánovics, J. Franco, T. Niehues, C. Schuetz, T. Kuijpers, C. Yee, J. Chou, Michel Masaad, R. Geha, G. Uzel, R. Gelman, S. Holland, M. Recher, P. Utz, S. Browne, L. Notarangelo (2015)
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.The Journal of clinical investigation, 125 11
Gambineri (2018)
Clinical, immunological, and molecular heterogeneity of 173 patients with the phenotype of immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndromeFront Immunol, 9
O. Zimmerman, B. Rösler, C. Zerbe, Lindsey Rosen, A. Hsu, G. Uzel, A. Freeman, E. Sampaio, S. Rosenzweig, H. Kuehn, Tiffany Kim, Kristina Brooks, Parag Kumar, Xiaowen Wang, M. Netea, F. Veerdonk, S. Holland (2017)
Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal DiseaseOpen Forum Infectious Diseases, 4
(2014)
al.Low thymic output,peripheral homeostasis deregulation, and hastened regulatory T cells differentiation in children with 22q11.2 deletion syndrome
S. Law-Ping-Man, F. Toutain, F. Rieux-Laucat, C. Picard, S. Kammerer-Jacquet, A. Magerus-Chatinet, A. Dupuy, H. Adamski (2018)
Chronic granulomatous skin lesions leading to a diagnosis of TAP1 deficiency syndromePediatric Dermatology, 35
C. Klemann, C. Klemann, Nadezhda Camacho-Ordonez, Linlin Yang, Z. Eskandarian, J. Rojas-Restrepo, N. Frede, A. Bulashevska, M. Heeg, Moudjahed Al-Ddafari, Julian Premm, M. Seidl, S. Ammann, S. Ammann, R. Sherkat, N. Radhakrishnan, K. Warnatz, S. Unger, R. Kobbe, A. Hüfner, T. Leahy, Winnie Ip, S. Burns, S. Burns, M. Fliegauf, B. Grimbacher (2019)
Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations in NFKB2Frontiers in Immunology, 10
M. Maccari, Hassan Abolhassani, A. Aghamohammadi, A. Aiuti, O. Aleinikova, C. Bangs, S. Barış, F. Barzaghi, H. Baxendale, M. Buckland, S. Burns, C. Cancrini, A. Cant, P. Cathébras, M. Cavazzana, Anita Chandra, F. Conti, T. Coulter, L. Devlin, J. Edgar, S. Faust, A. Fischer, M. García-Prat, L. Hammarström, M. Heeg, S. Jolles, E. Karakoc‐Aydiner, G. Kindle, A. Kıykım, D. Kumararatne, B. Grimbacher, H. Longhurst, N. Mahlaoui, Tomáš Milota, F. Moreira, D. Moshous, A. Mukhina, O. Neth, B. Neven, A. Nieters, P. Olbrich, A. Ozen, J. Schmid, C. Picard, S. Prader, W. Rae, J. Reichenbach, Stephan Rusch, S. Savic, Alessia Scarselli, Raphael Scheible, A. Šedivá, S. Sharapova, A. Shcherbina, M. Slatter, P. Soler-Palacín, Aurélie Stanislas, F. Suarez, F. Tucci, A. Uhlmann, J. Montfrans, K. Warnatz, Anthony Williams, P. Wood, S. Kracker, A. Condliffe, S. Ehl (2018)
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome RegistryFrontiers in Immunology, 9
L. Notarangelo, Min-Sung Kim, J. Walter, Y. Lee (2016)
Human RAG mutations: biochemistry and clinical implicationsNature Reviews Immunology, 16
P. Tuijnenburg, Hana Allen, Siobhan Burns, D. Greene, Machiel Jansen, E. Staples, J. Stephens, Keren Carss, D. Biasci, Helen Baxendale, Moira Thomas, Anita Chandra, S. Kiani-Alikhan, Hilary Longhurst, Suranjith Seneviratne, Eric Oksenhendler, Ilenia Simeoni, G. Bree, A. Tool, E. Leeuwen, E. Ebberink, A. Meijer, Salih Tuna, Deborah Whitehorn, Matthew Brown, E. Turro, A. Thrasher, Kenneth Smith, James Thaventhiran, Taco Kuijpers, Zoe Arumugakan, Z. Adhya, H. Alachkar, A. Anantharachagan, R. Antrobus, G. Arumugakani, C. Bacchelli, Helen Baxendale, C. Bethune, Shahnaz Bibi, Barbara Boardman, C. Booth, Michael Browning, M. Brownlie, Siobhan Burns, Anita Chandra, H. Clifford, Nichola Cooper, Sophie Davies, J. Dempster, L. Devlin, R. Doffinger, E. Drewe, D. Edgar, W. Egner, T. El-shanawany, B. Gaspar, Rohit Ghurye, K. Gilmour, S. Goddard, Pavels Gordins, S. Grigoriadou, S. Hackett, R. Hague, L. Harper, G. Hayman, A. Herwadkar, Stephen Hughes, A. Huissoon, S. Jolles, Julie Jones, P. Kelleher, N. Klein, Taco Kuijpers, D. Kumararatne, J. Laffan, Hana Allen, S. Lear, Hilary Longhurst, Lorena Lorenzo, J. Maimaris, A. Manson, E. McDermott, H. Millar, A. Mistry, Valerie Morrisson, S. Murng, Iman Nasir, S. Nejentsev, S. Noorani, Eric Oksenhendler, Mark Ponsford, W. Qasim, Ellen Quinn, I. Quinti, A. Richter, C. Samarghitean, R. Sargur, S. Savic, Suranjith Seneviratne, C. Sewall, F. Shackley, Ilenia Simeoni, Kenneth Smith, E. Staples, H. Stauss, C. Steele, James Thaventhiran, Moira Thomas, A. Thrasher, S. Welch, L. Willcocks, S. Workman, A. Worth, Nigel Yeatman, P. Yong, Sofie Ashford, J. Bradley, Debra Fletcher, Tracey Hammerton, R. James, N. Kingston, W. Ouwehand, C. Penkett, F. Raymond, K. Stirrups, Marijke Veltman, Tim Young, Matthew Brown, Naomi Clements-Brod, John Davis, Eleanor Dewhurst, M. Erwood, A. Frary, R. Linger, Jennifer Martin, S. Papadia, Karola Rehnstrom, W. Astle, A. Attwood, M. Bleda, Keren Carss, L. Daugherty, Sri Deevi, S. Graf, D. Greene, Csaba Halmagyi, M. Haimel, Fengyuan Hu, Vera Matser, Stuart Meacham, K. Megy, O. Shamardina, Catherine Titterton, Salih Tuna, E. Turro, Ping Yu, Julie Ziegenweldt, A. Furnell, R. Mapeta, Simon Staines, J. Stephens, Deborah Whitehorn, Paula Rayner-Matthews, C. Watt (2018)
Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in EuropeansThe Journal of Allergy and Clinical Immunology, 142
L. Forbes, T. Vogel, M. Cooper, Johana Castro-Wagner, E. Schussler, K. Weinacht, Ashley Plant, H. Su, E. Allenspach, M. Slatter, M. Abinun, D. Lilić, C. Cunningham-Rundles, O. Eckstein, P. Olbrich, R. Guillerman, N. Patel, Y. Demirdag, C. Zerbe, A. Freeman, S. Holland, P. Szabolcs, A. Gennery, T. Torgerson, J. Milner, J. Leiding, J. Leiding (2018)
Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations.The Journal of allergy and clinical immunology, 142 5
Emily Leven, P. Maffucci, H. Ochs, P. Scholl, R. Buckley, R. Fuleihan, R. Geha, C. Cunningham, F. Bonilla, M. Conley, R. Ferdman, V. Hernandez-Trujillo, J. Puck, K. Sullivan, E. Secord, M. Ramesh, C. Cunningham-Rundles (2016)
Hyper IgM Syndrome: a Report from the USIDNET RegistryJournal of Clinical Immunology, 36
F. Barzaghi, L. Hernandez, B. Neven, S. Ricci, Z. Kucuk, J. Bleesing, Z. Nademi, M. Slatter, E. Ulloa, A. Shcherbina, A. Roppelt, A. Worth, Juliana Silva, A. Aiuti, L. Murguia-Favela, C. Speckmann, M. Carneiro-Sampaio, J. Fernandes, S. Barış, A. Ozen, E. Karakoc‐Aydiner, A. Kıykım, A. Schulz, S. Steinmann, L. Notarangelo, E. Gambineri, P. Lionetti, W. Shearer, L. Forbes, C. Martinez, D. Moshous, S. Blanche, A. Fisher, F. Ruemmele, Côme Tissandier, M. Ouachée-Chardin, F. Rieux-Laucat, M. Cavazzana, W. Qasim, B. Lucarelli, M. Albert, I. Kobayashi, Laura Alonso, C. Heredia, H. Kanegane, A. Lawitschka, J. Seo, M. González-Vicent, M. Díaz, R. Goyal, M. Sauer, A. Yeşilipek, Minsoo Kim, Y. Yilmaz-Demirdag, M. Bhatia, J. Khlevner, Erick Padilla, S. Martino, D. Montin, O. Neth, Á. Molinos-Quintana, J. Valverde-Fernández, A. Broides, V. Pinsk, A. Ballauf, F. Haerynck, V. Bordon, C. Dhooge, M. Garcia-Lloret, R. Bredius, Krzysztof Ka1wak, E. Haddad, M. Seidel, G. Duckers, S. Pai, C. Dvorak, S. Ehl, F. Locatelli, F. Goldman, A. Gennery, M. Cowan, M. Roncarolo, R. Bacchetta (2017)
Long-term follow-up of IPEX syndrome patients after different therapeutic strategies: An international multicenter retrospective studyThe Journal of allergy and clinical immunology, 141
A. Bousfiha, L. Jeddane, C. Picard, F. Ailal, H. Gaspar, W. Al-Herz, T. Chatila, Y. Crow, Y. Crow, C. Cunningham-Rundles, A. Etzioni, J. Franco, S. Holland, C. Klein, T. Morio, H. Ochs, É. Oksenhendler, J. Puck, M. Tang, M. Tang, S. Tangye, S. Tangye, T. Torgerson, J. Casanova, K. Sullivan (2017)
The 2017 IUIS Phenotypic Classification for Primary ImmunodeficienciesJournal of Clinical Immunology, 38
C. Lucas, H. Kuehn, Fang Zhao, J. Niemela, E. Deenick, U. Palendira, D. Avery, Leen Moens, J. Cannons, M. Biancalana, J. Stoddard, W. Ouyang, D. Frucht, V. Rao, T. Atkinson, A. Agharahimi, Ashleigh Hussey, L. Folio, K. Olivier, T. Fleisher, S. Pittaluga, S. Holland, J. Cohen, J. Oliveira, S. Tangye, P. Schwartzberg, M. Lenardo, G. Uzel (2013)
Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiencyNature Immunology, 15
E. Salzer, E. Santos-Valente, Bärbel Keller, K. Warnatz, K. Boztug (2016)
Protein Kinase C δ: a Gatekeeper of Immune HomeostasisJournal of Clinical Immunology, 36
S. Ferrando-Martínez, R. Lorente, D. Gurbindo, M. José, M. Leal, M. Muñoz-Fernández, R. Correa-Rocha (2014)
Low thymic output, peripheral homeostasis deregulation, and hastened regulatory T cells differentiation in children with 22q11.2 deletion syndrome.The Journal of pediatrics, 164 4
P. Nagpala, R. Newfield, J. Bastian, M. Gottschalk (2007)
Autoimmune thyroiditis and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency.Thyroid : official journal of the American Thyroid Association, 17 6
T. Kanai, Jennifer Jenks, K. Nadeau (2012)
The STAT5b Pathway Defect and AutoimmunityFrontiers in Immunology, 3
Magdeldin Elgizouli, D. Lowe, C. Speckmann, D. Schubert, J. Hülsdünker, Z. Eskandarian, A. Dudek, A. Schmitt-Graeff, J. Wanders, S. Jørgensen, B. Fevang, U. Salzer, A. Nieters, S. Burns, B. Grimbacher (2016)
Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiencyClinical & Experimental Immunology, 183
F. Rucci, P. Poliani, S. Caraffi, T. Paganini, E. Fontana, S. Giliani, F. Alt, L. Notarangelo (2011)
Abnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined ImmunodeficiencyFrontiers in Immunology, 2
M. Kallel-Sellami, L. Laadhar, Y. Zerzeri, S. Makni (2008)
Complement deficiency and systemic lupus erythematosus: consensus and dilemmaExpert Review of Clinical Immunology, 4
A. Alangari, A. Alsultan, N. Adly, M. Massaad, I. Kiani, A. Aljebreen, Emad Raddaoui, A. Almomen, S. Al‐Muhsen, R. Geha (2012)
Immune deficiencies , infection , and systemic immune disorders LPS-responsive beige-like anchor ( LRBA ) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency
Notarangelo (2008)
Wiskott-Aldrich syndromeCurr Opin Hematol, 15
(2007)
and acquired hypothyroidism in an infant with severe combined immunodeficiency due to adenosine deaminase deficiency
Bernice Lo, Kejian Zhang, Wei-Yu Lu, Lixin Zheng, Qian Zhang, C. Kanellopoulou, Yu Zhang, Zhiduo Liu, Jill Fritz, R. Marsh, Ammar Husami, Diane Kissell, Shannon Nortman, Vijaya Chaturvedi, H. Haines, L. Young, J. Mo, A. Filipovich, J. Bleesing, P. Mustillo, Michael Stephens, C. Rueda, C. Chougnet, K. Hoebe, J. McElwee, J. Hughes, E. Karakoc‐Aydiner, H. Matthews, S. Price, H. Su, V. Rao, M. Lenardo, M. Jordan (2015)
Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapyScience, 349
F. Bonilla, D. Khan, Z. Ballas, J. Chinen, M. Frank, Joyce Hsu, Michael Keller, L. Kobrynski, Hirsh Komarow, B. Mazer, R. Nelson, J. Orange, J. Routes, W. Shearer, R. Sorensen, J. Verbsky, D. Bernstein, J. Blessing-Moore, D. Lang, R. Nicklas, J. Oppenheimer, J. Portnoy, Christopher Randolph, D. Schuller, S. Spector, S. Tilles, D. Wallace (2015)
Practice parameter for the diagnosis and management of primary immunodeficiency.The Journal of allergy and clinical immunology, 136 5
C. Staufner (2020)
Purine nucleoside phosphorylase deficiencyAtlas of Inherited Metabolic Diseases
Kwan (2014)
Newborn screening for severe combined immunodeficiency in 11 screening programs in the United StatesJAMA, 312
J. Verbsky, T. Chatila (2013)
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) and IPEX-related disorders: an evolving web of heritable autoimmune diseases.Current opinion in pediatrics, 25 6
E. Crestani, S. Volpi, F. Candotti, S. Giliani, L. Notarangelo, Julia Chu, J. Becerra, D. Buchbinder, J. Chou, R. Geha, M. Kanariou, A. King, C. Mazza, D. Moratto, R. Sokolic, Elizabeth Garabedian, F. Porta, M. Putti, R. Wakim, E. Tsitsikov, S. Pai, L. Notarangelo (2015)
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.The Journal of allergy and clinical immunology, 136 5
M. Morena (2016)
Clinical Phenotypes of Hyper-IgM Syndromes.The journal of allergy and clinical immunology. In practice, 4 6
J. Milner, T. Vogel, L. Forbes, Chi Ma, A. Stray-Pedersen, J. Niemela, J. Lyons, Karin Engelhardt, Yu Zhang, Nermina Topcagic, Elisha Roberson, H. Matthews, J. Verbsky, T. Dasu, A. Vargas‐Hernández, N. Varghese, K. McClain, Lina Karam, K. Nahmod, G. Makedonas, E. Mace, H. Sorte, G. Perminow, V. Rao, M. O’Connell, S. Price, H. Su, Morgan Butrick, J. McElwee, J. Hughes, Joseph Willet, D. Swan, Yaobo Xu, M. Santibanez-Koref, Voytek Slowik, D. Dinwiddie, C. Ciaccio, C. Saunders, S. Septer, S. Kingsmore, Andrew White, A. Cant, S. Hambleton, M. Cooper (2015)
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations.Blood, 125 4
R. Yazdani, G. Azizi, Hassan Abolhassani, A. Aghamohammadi (2017)
Selective IgA Deficiency: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and ManagementScandinavian Journal of Immunology, 85
S. Dupuis-Girod, J. Medioni, E. Haddad, P. Quartier, M. Cavazzana‐Calvo, F. Deist, G. Basile, J. Delaunay, K. Schwarz, J. Casanova, S. Blanche, A. Fischer (2003)
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients.Pediatrics, 111 5 Pt 1
B. Grimbacher, A. Hutloff, M. Schlesier, E. Glocker, K. Warnatz, R. Dräger, H. Eibel, B. Fischer, A. Schäffer, H. Mages, R. Kroczek, H. Peter (2003)
Homozygous loss of ICOS is associated with adult-onset common variable immunodeficiencyNature Immunology, 4
E. Grunebaum, A. Cohen, C. Roifman (2013)
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficienciesCurrent Opinion in Allergy and Clinical Immunology, 13
Nan Chen, Zhi‐Yong Zhang, Dawei Liu, Wei Liu, Xue-mei Tang, Xiaodong Zhao (2015)
The clinical features of autoimmunity in 53 patients with Wiskott–Aldrich syndrome in China: a single-center studyEuropean Journal of Pediatrics, 174
G. López-Herrera, G. Tampella, Q. Pan-Hammarström, P. Herholz, C. Trujillo-Vargas, K. Phadwal, A. Simon, M. Moutschen, Amos Etzioni, A. Mory, I. Srugo, D. Melamed, K. Hultenby, Chonghai Liu, M. Baronio, M. Vitali, P. Philippet, V. Dideberg, A. Aghamohammadi, N. Rezaei, V. Enright, Likun Du, U. Salzer, H. Eibel, D. Pfeifer, H. Veelken, H. Stauss, V. Lougaris, A. Plebani, E. Gertz, A. Schäffer, L. Hammarström, B. Grimbacher (2012)
Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity.American journal of human genetics, 90 6
D. Schubert, C. Bode, R. Kenefeck, T. Hou, J. Wing, A. Kennedy, A. Bulashevska, B. Petersen, A. Schäffer, B. Grüning, S. Unger, N. Frede, U. Baumann, T. Witte, R. Schmidt, G. Dueckers, T. Niehues, S. Seneviratne, M. Kanariou, C. Speckmann, S. Ehl, A. Rensing-Ehl, K. Warnatz, M. Rakhmanov, R. Thimme, P. Hasselblatt, F. Emmerich, T. Cathomen, R. Backofen, P. Fisch, M. Seidl, A. May, A. Schmitt-Graeff, S. Ikemizu, U. Salzer, A. Franke, S. Sakaguchi, S. Lucy, Walker, D. Sansom, Bodo Grimbacher
Nature Medicine Advance Online Publication Autosomal Dominant Immune Dysregulation Syndrome in Humans with Ctla4 Mutations
M. Morsheimer, Terri Whitehorn, J. Heimall, K. Sullivan (2017)
The immune deficiency of chromosome 22q11.2 deletion syndromeAmerican Journal of Medical Genetics Part A, 173
M. Walport (2001)
Complement. Second of two parts.The New England journal of medicine, 344 15
(2011)
Epub ahead of print] 72. van de Veerdonk FL, Plantinga TS, Hoischen A, et al. STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis
H. Yamada, A. Watanabe, A. Mimori, K. Nakano, F. Takeuchi, K. Matsuta, K. Tanimoto, T. Miyamoto, Y. Yukiyama, K. Tokunaga (1990)
Lack of gene deletion for complement C4A deficiency in Japanese patients with systemic lupus erythematosus.The Journal of rheumatology, 17 8
Weinacht (2017)
Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutationJ Allergy Clin Immunol, 139
J. Atkinson (1988)
Complement deficiency: predisposing factor to autoimmune syndromes.Clinical and experimental rheumatology, 7 Suppl 3
Purpose of review Here we review the rheumatologic and autoimmune features of primary immune deficiencies with a focus on recently recognized genetic diseases, the spectrum of autoimmunity in PID, and targeted therapies. Recent findings Primary immune deficiencies (PIDs) were initially described as genetic diseases of the immune system leading to susceptibility to infection. It is now well recognized that immune dysfunction and dysregulation also cause noninfectious complications including autoimmunity. The increased application of molecular testing for PID has revealed the diversity of clinical disease. Recent discoveries of diseases with prominent autoimmunity include activated phosphoinositide 3-kinase δ syndrome and PIDs caused by gain-of-function in STAT1 and STAT3. Similarly, identification of larger cohorts of patients with molecular diagnoses in more common PIDs, such as common variable immune deficiency (CVID), has led to increased understanding of the range of autoimmunity in PIDs. Understanding the molecular basis of these PIDs has the potential to lead to targeted therapy to treat associated autoimmunity. Summary Autoimmunity and rheumatologic disease can be presenting symptoms and/or complicating features of primary immunodeficiencies. Evaluation for PIDs in patients who have early-onset, multiple, and/or atypical autoimmunity can enhance diagnosis and therapeutic options. aDivision of Rheumatology bDivision of Allergy, Immunology & Pulmonary Medicine, Department of Pediatrics, Washington University School of Medicine, St, Louis, Missouri, USA Correspondence to Megan A. Cooper, Division of Rheumatology, Department of Pediatrics, Washington University School of Medicine, St, Louis, Missouri, USA. Tel: +1 314 454 6124; e-mail: addresscooper_m@wustl.edu
Current Opinion in Allergy and Clinical Immunology – Wolters Kluwer Health
Published: Dec 1, 2019
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