WHIM syndrome [DS:H00097]
Chronic granulomatous disease [DS:H00098]
Leukocyte adhesion deficiency [DS:H00099]
Classic complement pathway component defects [DS:H00102]
Late complement pathway defects [DS:H00103]
Alternative complement pathway component defects [DS:H00104]
Mannose-binding lectin pathway component defects [DS:H00105]
Complement regulatory protein defects [DS:H00106]
Other phagocyte defects [DS:H00101]
IFN-gamma/IL-12 axis [DS:H00089]
Defects of toll-like receptor signaling [DS:H00096]
NK cell defects [DS:H00090]

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

Hambleton S, Goodbourn S, Young DF, Dickinson P, Mohamad SM, Valappil M, McGovern N, Cant AJ, Hackett SJ, Ghazal P, Morgan NV, Randall RE

STAT2 deficiency and susceptibility to viral illness in humans.

Proc Natl Acad Sci U S A 110:3053-8 (2013)
DOI:10.1073/pnas.1220098110

Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S

Human IFNAR2 deficiency: Lessons for antiviral immunity.

Sci Transl Med 7:307ra154 (2015)
DOI:10.1126/scitranslmed.aac4227

Cuchet-Lourenco D, Eletto D, Wu C, Plagnol V, Papapietro O, Curtis J, Ceron-Gutierrez L, Bacon CM, Hackett S, Alsaleem B, Maes M, Gaspar M, Alisaac A, Goss E, AlIdrissi E, Siegmund D, Wajant H, Kumararatne D, AlZahrani MS, Arkwright PD, Abinun M, Doffinger R, Nejentsev S

Biallelic RIPK1 mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation.

Science 361:810-813 (2018)
DOI:10.1126/science.aar2641

Fernandez IZ, Baxter RM, Garcia-Perez JE, Vendrame E, Ranganath T, Kong DS, Lundquist K, Nguyen T, Ogolla S, Black J, Galambos C, Gumbart JC, Dawany N, Kelsen JR, de Zoeten EF, Quinones R, Eissa H, Verneris MR, Sullivan KE, Rochford R, Blish CA, Kedl RM, Dutmer CM, Hsieh EWY

A novel human IL2RB mutation results in T and NK cell-driven immune dysregulation.

J Exp Med 216:1255-1267 (2019)
DOI:10.1084/jem.20182015

Bravo Garcia-Morato M, Calvo Apalategi A, Bravo-Gallego LY, Blazquez Moreno A, Simon-Fuentes M, Garmendia JV, Mendez Echevarria A, Del Rosal Rabes T, Dominguez-Soto A, Lopez-Granados E, Reyburn HT, Rodriguez Pena R

Impaired control of multiple viral infections in a family with complete IRF9 deficiency.

J Allergy Clin Immunol 144:309-312.e10 (2019)
DOI:10.1016/j.jaci.2019.02.019

Merselis LC, Jiang SY, Nelson SF, Lee H, Prabaker KK, Baker JL, Munson GP, Butte MJ

MPEG1/Perforin-2 Haploinsufficiency Associated Polymicrobial Skin Infections and Considerations for Interferon-gamma Therapy.

Front Immunol 11:601584 (2020)
DOI:10.3389/fimmu.2020.601584

Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZC, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS

Human NK cell deficiency as a result of biallelic mutations in MCM10.

J Clin Invest 130:5272-5286 (2020)
DOI:10.1172/JCI134966

Bolze A, Byun M, McDonald D, Morgan NV, Abhyankar A, Premkumar L, Puel A, Bacon CM, Rieux-Laucat F, Pang K, Britland A, Abel L, Cant A, Maher ER, Riedl SJ, Hambleton S, Casanova JL

Whole-exome-sequencing-based discovery of human FADD deficiency.

Am J Hum Genet 87:873-81 (2010)
DOI:10.1016/j.ajhg.2010.10.028

Le Voyer T, Neehus AL, Yang R, Ogishi M, Rosain J, Alroqi F, Alshalan M, Blumental S, Al Ali F, Khan T, Ata M, Rozen L, Demulder A, Bastard P, Gruber C, Roynard M, Seeleuthener Y, Rapaport F, Bigio B, Chrabieh M, Sng D, Berteloot L, Boddaert N, Rozenberg F, Al-Muhsen S, Bertoli-Avella A, Abel L, Bogunovic D, Marr N, Mansouri D, Al Mutairi F, Beziat V, Weil D, Mahdaviani SA, Ferster A, Zhang SY, Reversade B, Boisson-Dupuis S, Casanova JL, Bustamante J

Inherited deficiency of stress granule ZNFX1 in patients with monocytosis and mycobacterial disease.

Proc Natl Acad Sci U S A 118:2102804118 (2021)
DOI:10.1073/pnas.2102804118

Lamborn IT, Jing H, Zhang Y, Drutman SB, Abbott JK, Munir S, Bade S, Murdock HM, Santos CP, Brock LG, Masutani E, Fordjour EY, McElwee JJ, Hughes JD, Nichols DP, Belkadi A, Oler AJ, Happel CS, Matthews HF, Abel L, Collins PL, Subbarao K, Gelfand EW, Ciancanelli MJ, Casanova JL, Su HC

Recurrent rhinovirus infections in a child with inherited MDA5 deficiency.

J Exp Med 214:1949-1972 (2017)
DOI:10.1084/jem.20161759

Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, Jamal S, Manguiat A, Rezaei N, Amirzargar AA, Plebani A, Hannesschlager N, Gross O, Ruland J, Grimbacher B

A homozygous CARD9 mutation in a family with susceptibility to fungal infections.

N Engl J Med 361:1727-35 (2009)
DOI:10.1056/NEJMoa0810719

Abolhassani H, Landegren N, Bastard P, Materna M, Modaresi M, Du L, Aranda-Guillen M, Sardh F, Zuo F, Zhang P, Marcotte H, Marr N, Khan T, Ata M, Al-Ali F, Pescarmona R, Belot A, Beziat V, Zhang Q, Casanova JL, Kampe O, Zhang SY, Hammarstrom L, Pan-Hammarstrom Q

Inherited IFNAR1 Deficiency in a Child with Both Critical COVID-19 Pneumonia and Multisystem Inflammatory Syndrome.

J Clin Immunol 42:471-483 (2022)
DOI:10.1007/s10875-022-01215-7

Boisson B, Laplantine E, Dobbs K, Cobat A, Tarantino N, Hazen M, Lidov HG, Hopkins G, Du L, Belkadi A, Chrabieh M, Itan Y, Picard C, Fournet JC, Eibel H, Tsitsikov E, Pai SY, Abel L, Al-Herz W, Casanova JL, Israel A, Notarangelo LD

Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia.

J Exp Med 212:939-51 (2015)
DOI:10.1084/jem.20141130

Rosain J, Neehus AL, Manry J, Yang R, Le Pen J, Daher W, Liu Z, Chan YH, Tahuil N, Turel O, Bourgey M, Ogishi M, Doisne JM, Izquierdo HM, Shirasaki T, Le Voyer T, Guerin A, Bastard P, Moncada-Velez M, Han JE, Khan T, Rapaport F, Hong SH, Cheung A, Haake K, Mindt BC, Perez L, Philippot Q, Lee D, Zhang P, Rinchai D, Al Ali F, Ahmad Ata MM, Rahman M, Peel JN, Heissel S, Molina H, Kendir-Demirkol Y, Bailey R, Zhao S, Bohlen J, Mancini M, Seeleuthner Y, Roelens M, Lorenzo L, Soudee C, Paz MEJ, Gonzalez ML, Jeljeli M, Soulier J, Romana S, L'Honneur AS, Materna M, Martinez-Barricarte R, Pochon M, Oleaga-Quintas C, Michev A, Migaud M, Levy R, Alyanakian MA, Rozenberg F, Croft CA, Vogt G, Emile JF, Kremer L, Ma CS, Fritz JH, Lemon SM, Spaan AN, Manel N, Abel L, MacDonald MR, Boisson-Dupuis S, Marr N, Tangye SG, Di Santo JP, Zhang Q, Zhang SY, Rice CM, Beziat V, Lachmann N, Langlais D, Casanova JL, Gros P, Bustamante J

Human IRF1 governs macrophagic IFN-gamma immunity to mycobacteria.

Cell 186:621-645.e33 (2023)
DOI:10.1016/j.cell.2022.12.038