Agammaglobulinemias [DS:H00085]
Hyper IgM syndromes, autosomal recessive type [DS:H00086]
Common variable immunodeficiency [DS:H00088]
T-B+Severe combined immunodeficiency (SCIDs) [DS:H00091]
T-B-Severe combined immunodeficiency (SCIDs) [DS:H00092]
T+B+Severe combined immunodeficiencies (SCIDs) [DS:H01244]
Combined immunodeficiency [DS:H00093]
Activated PI3K-delta syndrome [DS:H01387]
Other humoral immunodeficiencies [DS:H00087]
Autoimmune lymphoproliferative syndromes [DS:H00108]
Familial hemophagocytic lymphohistiocytosis [DS:H00109]
Immunodeficiency associated with DNA repair defects [DS:H00094]

Primary immunodeficiency disease [DS:H01725]

McCusker C, Warrington R

Primary immunodeficiency.

Allergy Asthma Clin Immunol 7 Suppl 1:S11 (2011)
DOI:10.1186/1710-1492-7-S1-S11

Gorska MM, Alam R

A mutation in the human Uncoordinated 119 gene impairs TCR signaling and is associated with CD4 lymphopenia.

Blood 119:1399-406 (2012)
DOI:10.1182/blood-2011-04-350686

Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency.

Nat Genet 48:74-8 (2016)
DOI:10.1038/ng.3465

Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, Andre-Schmutz I

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

J Allergy Clin Immunol 138:1681-1689.e8 (2016)
DOI:10.1016/j.jaci.2016.04.032

Keller B, Zaidman I, Yousefi OS, Hershkovitz D, Stein J, Unger S, Schachtrup K, Sigvardsson M, Kuperman AA, Shaag A, Schamel WW, Elpeleg O, Warnatz K, Stepensky P

Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LAT.

J Exp Med 213:1185-99 (2016)
DOI:10.1084/jem.20151110

Sharfe N, Merico D, Karanxha A, Macdonald C, Dadi H, Ngan B, Herbrick JA, Roifman CM

The effects of RelB deficiency on lymphocyte development and function.

J Autoimmun 65:90-100 (2015)
DOI:10.1016/j.jaut.2015.09.001

Afzali B, Gronholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence ADJ

BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency.

Nat Immunol 18:813-823 (2017)
DOI:10.1038/ni.3753

Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, Andre-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S

Loss of ARHGEF1 causes a human primary antibody deficiency.

J Clin Invest 129:1047-1060 (2019)
DOI:10.1172/JCI120572

Mao H, Yang W, Latour S, Yang J, Winter S, Zheng J, Ni K, Lv M, Liu C, Huang H, Chan KW, Pui-Wah Lee P, Tu W, Fischer A, Lau YL

RASGRP1 mutation in autoimmune lymphoproliferative syndrome-like disease.

J Allergy Clin Immunol 142:595-604.e16 (2018)
DOI:10.1016/j.jaci.2017.10.026

Record J, Malinova D, Zenner HL, Plagnol V, Nowak K, Syed F, Bouma G, Curtis J, Gilmour K, Cale C, Hackett S, Charras G, Moulding D, Nejentsev S, Thrasher AJ, Burns SO

Immunodeficiency and severe susceptibility to bacterial infection associated with a loss-of-function homozygous mutation of MKL1.

Blood 126:1527-35 (2015)
DOI:10.1182/blood-2014-12-611012

Thaventhiran JED, Lango Allen H, Burren OS, Rae W, Greene D, Staples E, Zhang Z, Farmery JHR, Simeoni I, Rivers E, Maimaris J, Penkett CJ, Stephens J, Deevi SVV, Sanchis-Juan A, Gleadall NS, Thomas MJ, Sargur RB, Gordins P, Baxendale HE, Brown M, Tuijnenburg P, Worth A, Hanson S, Linger RJ, Buckland MS, Rayner-Matthews PJ, Gilmour KC, Samarghitean C, Seneviratne SL, Sansom DM, Lynch AG, Megy K, Ellinghaus E, Ellinghaus D, Jorgensen SF, Karlsen TH, Stirrups KE, Cutler AJ, Kumararatne DS, Chandra A, Edgar JDM, Herwadkar A, Cooper N, Grigoriadou S, Huissoon AP, Goddard S, Jolles S, Schuetz C, Boschann F, Lyons PA, Hurles ME, Savic S, Burns SO, Kuijpers TW, Turro E, Ouwehand WH, Thrasher AJ, Smith KGC

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Nature 583:90-95 (2020)
DOI:10.1038/s41586-020-2265-1

Cook SA, Comrie WA, Poli MC, Similuk M, Oler AJ, Faruqi AJ, Kuhns DB, Yang S, Vargas-Hernandez A, Carisey AF, Fournier B, Anderson DE, Price S, Smelkinson M, Abou Chahla W, Forbes LR, Mace EM, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Lupski JR, Orange JS, Cuvelier GDE, Al Hassani M, Al Kaabi N, Al Yafei Z, Jyonouchi S, Raje N, Caldwell JW, Huang Y, Burkhardt JK, Latour S, Chen B, ElGhazali G, Rao VK, Chinn IK, Lenardo MJ

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.

Science 369:202-207 (2020)
DOI:10.1126/science.aay5663

Lyszkiewicz M, Zietara N, Frey L, Pannicke U, Stern M, Liu Y, Fan Y, Puchalka J, Hollizeck S, Somekh I, Rohlfs M, Yilmaz T, Unal E, Karakukcu M, Patiroglu T, Kellerer C, Karasu E, Sykora KW, Lev A, Simon A, Somech R, Roesler J, Hoenig M, Keppler OT, Schwarz K, Klein C

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.

Nat Commun 11:1031 (2020)
DOI:10.1038/s41467-020-14809-9

Stepensky P, Rensing-Ehl A, Gather R, Revel-Vilk S, Fischer U, Nabhani S, Beier F, Brummendorf TH, Fuchs S, Zenke S, Firat E, Pessach VM, Borkhardt A, Rakhmanov M, Keller B, Warnatz K, Eibel H, Niedermann G, Elpeleg O, Ehl S

Early-onset Evans syndrome, immunodeficiency, and premature immunosenescence associated with tripeptidyl-peptidase II deficiency.

Blood 125:753-61 (2015)
DOI:10.1182/blood-2014-08-593202

Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I

Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.

J Infect Dis 223:645-654 (2021)
DOI:10.1093/infdis/jiab025

Lev A, Lee YN, Sun G, Hallumi E, Simon AJ, Zrihen KS, Levy S, Beit Halevi T, Papazian M, Shwartz N, Somekh I, Levy-Mendelovich S, Wolach B, Gavrieli R, Vernitsky H, Barel O, Javasky E, Stauber T, Ma CA, Zhang Y, Amariglio N, Rechavi G, Hendel A, Yablonski D, Milner JD, Somech R

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects.

J Exp Med 218:e20201062 (2021)
DOI:10.1084/jem.20201062

Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM

Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.

Nat Genet 53:500-510 (2021)
DOI:10.1038/s41588-021-00803-4

Yamashita M, Kuehn HS, Okuyama K, Okada S, Inoue Y, Mitsuiki N, Imai K, Takagi M, Kanegane H, Takeuchi M, Shimojo N, Tsumura M, Padhi AK, Zhang KYJ, Boisson B, Casanova JL, Ohara O, Rosenzweig SD, Taniuchi I, Morio T

A variant in human AIOLOS impairs adaptive immunity by interfering with IKAROS.

Nat Immunol 22:893-903 (2021)
DOI:10.1038/s41590-021-00951-z

Kong XF, Martinez-Barricarte R, Kennedy J, Mele F, Lazarov T, Deenick EK, Ma CS, Breton G, Lucero KB, Langlais D, Bousfiha A, Aytekin C, Markle J, Trouillet C, Jabot-Hanin F, Arlehamn CSL, Rao G, Picard C, Lasseau T, Latorre D, Hambleton S, Deswarte C, Itan Y, Abarca K, Moraes-Vasconcelos D, Ailal F, Ikinciogullari A, Dogu F, Benhsaien I, Sette A, Abel L, Boisson-Dupuis S, Schroder B, Nussenzweig MC, Liu K, Geissmann F, Tangye SG, Gros P, Sallusto F, Bustamante J, Casanova JL

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.

Nat Immunol 19:973-985 (2018)
DOI:10.1038/s41590-018-0178-z

Fournier B, Tusseau M, Villard M, Malcus C, Chopin E, Martin E, Jorge Cordeiro D, Fabien N, Fusaro M, Gauthier A, Garnier N, Goncalves D, Lounis S, Lenoir C, Mathieu AL, Moreews M, Perret M, Picard C, Picard C, Poitevin F, Viel S, Bertrand Y, Walzer T, Belot A, Latour S

DEF6 deficiency, a mendelian susceptibility to EBV infection, lymphoma, and autoimmunity.

J Allergy Clin Immunol 147:740-743.e9 (2021)
DOI:10.1016/j.jaci.2020.05.052