KEGG DISEASE: T-B+Severe combined immunodeficiency

DISEASE: T-B+Severe combined immunodeficiency

Entry

H00091                      Disease

Name

T-B+Severe combined immunodeficiency

Supergrp

Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

Description

Severe combined immunodeficiency (SCID) comprises a heterogeneous group of monogenic disorders that result in early-onset severe infections by a range of pathogens (such as bacteria, viruses and fungi). Typically, patients with SCID have a severe defect in T-cell differentiation, along with direct or indirect impairment of B-cell development and function. SCIDs with lack of circulating T cells but a normal number of B cells accounts for 30 to 50% of all cases of human SCIDs. The most frequent form of SCID, X-linked SCID (SCID-X1), is caused by mutations in the gamma-chain-encoding gene. Gamma-chain is a common subunit shared by several cytokine receptors. It results in an absence of both mature T lymphocytes and NK lymphocytes. The second most common variant is autosomal recessive and due to mutations of the JAK3 gene. IL-7R alpha gene mutations result in a pure T-cell deficiency. Rare cases of SCID consisting of pure T-cell deficiencies have been attributed to defects in key proteins involved in pre-TCR/TCR signaling. Deficiency in the CD45 phosphatase has been reported in two cases of SCID, while defects in CD3 delta, CD3 epsilon and CD3 zeta have also been described.

Category

Primary immunodeficiency

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H00091  T-B+Severe combined immunodeficiency
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06504  Base excision repair
   H00091  T-B+Severe combined immunodeficiency
  nt06502  Nucleotide excision repair
   H00091  T-B+Severe combined immunodeficiency
  nt06506  Double-strand break repair
   H00091  T-B+Severe combined immunodeficiency
Signal transduction
  nt06518  JAK-STAT signaling
   H00091  T-B+Severe combined immunodeficiency
Immune system
  nt06537  TCR/BCR signaling
   H00091  T-B+Severe combined immunodeficiency

Pathway

hsa04630

JAK-STAT signaling pathway

hsa04660

T cell receptor signaling pathway

Network

nt06502 Nucleotide excision repair
nt06504 Base excision repair
nt06506 Double-strand break repair
nt06518 JAK-STAT signaling
nt06537 TCR/BCR signaling

Gene

JAK3 [HSA:3718] [KO:K11218]
(SCIDX1) IL2RG [HSA:3561] [KO:K05070]
(IMD8) CORO1A [HSA:11151] [KO:K13882]
(IMD18) CD3E [HSA:916] [KO:K06451]
(IMD19) CD3D [HSA:915] [KO:K06450]
(IMD25) CD247 [HSA:919] [KO:K06453]
(IMD49) BCL11B [HSA:64919] [KO:K22046]
(IMD104) IL7R [HSA:3575] [KO:K05072]
(IMD105) PTPRC [HSA:5788] [KO:K06478]
(IMD122) POLD3 [HSA:10714] [KO:K03504]

Other DBs

ICD-11:

4A01.10

MeSH:

D053632 C563440 C565712

OMIM:

600802 300400 615401 615615 615617 610163 617237 608971 619924 620869

Reference

PMID:15661024

Authors

Fischer A, Le Deist F, Hacein-Bey-Abina S, Andre-Schmutz I, Basile Gde S, de Villartay JP, Cavazzana-Calvo M.

Title

Severe combined immunodeficiency. A model disease for molecular immunology and therapy.

Journal

Immunol Rev 203:98-109 (2005)
DOI:10.1111/j.0105-2896.2005.00223.x

Reference

PMID:18424339

Authors

Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.

Title

Genetic diagnosis of primary immune deficiencies.

Journal

Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004

Reference

PMID:17952897

Authors

Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.

Title

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

Journal

J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053

Reference

PMID:26482257

Authors

Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, Cunningham-Rundles C, Etzioni A, Holland SM, Klein C, Nonoyama S, Ochs HD, Oksenhendler E, Puck JM, Sullivan KE, Tang ML, Franco JL, Gaspar HB

Title

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015.

Journal

J Clin Immunol 35:696-726 (2015)
DOI:10.1007/s10875-015-0201-1

Reference

PMID:7659163 (JAK3)

Authors

Macchi P, Villa A, Giliani S, Sacco MG, Frattini A, Porta F, Ugazio AG, Johnston JA, Candotti F, O'Shea JJ, et al.

Title

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID).

Journal

Nature 377:65-8 (1995)
DOI:10.1038/377065a0

Reference

PMID:8462096 (SCIDX1)

Authors

Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ

Title

Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans.

Journal

Cell 73:147-57 (1993)
DOI:10.1016/0092-8674(93)90167-o

Reference

PMID:19097825 (IMD8)

Authors

Shiow LR, Paris K, Akana MC, Cyster JG, Sorensen RU, Puck JM

Title

Severe combined immunodeficiency (SCID) and attention deficit hyperactivity disorder (ADHD) associated with a Coronin-1A mutation and a chromosome 16p11.2 deletion.

Journal

Clin Immunol 131:24-30 (2009)
DOI:10.1016/j.clim.2008.11.002

Reference

PMID:15546002 (IMD18 IMD19)

Authors

de Saint Basile G, Geissmann F, Flori E, Uring-Lambert B, Soudais C, Cavazzana-Calvo M, Durandy A, Jabado N, Fischer A, Le Deist F

Title

Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3.

Journal

J Clin Invest 114:1512-7 (2004)
DOI:10.1172/JCI22588

Reference

PMID:16672702 (IMD25)

Authors

Rieux-Laucat F, Hivroz C, Lim A, Mateo V, Pellier I, Selz F, Fischer A, Le Deist F

Title

Inherited and somatic CD3zeta mutations in a patient with T-cell deficiency.

Journal

N Engl J Med 354:1913-21 (2006)
DOI:10.1056/NEJMoa053750

Reference

PMID:27959755 (IMD49)

Authors

Punwani D, Zhang Y, Yu J, Cowan MJ, Rana S, Kwan A, Adhikari AN, Lizama CO, Mendelsohn BA, Fahl SP, Chellappan A, Srinivasan R, Brenner SE, Wiest DL, Puck JM

Title

Multisystem Anomalies in Severe Combined Immunodeficiency with Mutant BCL11B.

Journal

N Engl J Med 375:2165-2176 (2016)
DOI:10.1056/NEJMoa1509164

Reference

PMID:9843216 (IMD104)

Authors

Puel A, Ziegler SF, Buckley RH, Leonard WJ

Title

Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency.

Journal

Nat Genet 20:394-7 (1998)
DOI:10.1038/3877

Reference

PMID:10700239 (IMD105)

Authors

Kung C, Pingel JT, Heikinheimo M, Klemola T, Varkila K, Yoo LI, Vuopala K, Poyhonen M, Uhari M, Rogers M, Speck SH, Chatila T, Thomas ML

Title

Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.

Journal

Nat Med 6:343-5 (2000)
DOI:10.1038/73208

Reference

PMID:37030525 (IMD122)

Authors

Mehawej C, Chouery E, Azar-Atallah S, Shebaby W, Delague V, Mansour I, Mustapha M, Lefranc G, Megarbane A

Title

POLD3 deficiency is associated with severe combined immunodeficiency, neurodevelopmental delay, and hearing impairment.

Journal

Clin Immunol 251:109326 (2023)
DOI:10.1016/j.clim.2023.109326

LinkDB

» Japanese version

DISEASE: Combined immunodeficiency

Entry

H00093                      Disease

Name

Combined immunodeficiency

Subgroup

Bare lymphocyte syndrome type 1 [DS:H00984]
Bare lymphocyte syndrome type 2 [DS:H00985]
Immunodeficiency with hyper-IgM [DS:H00086]
Combined cellular and humoral deficiencies and multiple granulomas (CCHDG)

Supergrp

Disorders of adaptive immunity [DS:H02526]
Primary immunodeficiency disease [DS:H01725]

Description

The term combined immunodeficiency (CID) is used to distinguish patients with low, but not absent, T-cell function from those with severe CID (SCID) characterized by profound deficiencies of T- and B-cell (and sometimes NK- cell) function. Hyper-IgM syndrome (HIM) [DS:H00086] represents a group of distinct entities characterized by defective normal or elevated IgM in the presence of diminished IgG and IgA levels. The genetic anomaly in X-linked hyper-IgM syndrome has been mapped to Xq26, and resides in mutations of the CD40 ligand gene. ZAP-70 deficiency is inherited in an autosomal recessive manner. Recurrent and opportunistic infections occur within the first year of life. The mutations in genes responsible for CRAC channel function, ORAI1 and STIM1, cause the defect in Ca2+ influx.

Category

Primary immunodeficiency

Brite

Human diseases in ICD-11 classification [BR:br08403]
04 Diseases of the immune system
  Primary immunodeficiencies
   4A01  Primary immunodeficiencies due to disorders of adaptive immunity
    H00093  Combined immunodeficiency
Pathway-based classification of diseases [BR:br08402]
Replication and repair
  nt06509  DNA replication
   H00093  Combined immunodeficiency
Signal transduction
  nt06530  PI3K signaling
   H00093  Combined immunodeficiency
  nt06518  JAK-STAT signaling
   H00093  Combined immunodeficiency
  nt06516  TNF signaling
   H00093  Combined immunodeficiency
  nt06528  Calcium signaling
   H00093  Combined immunodeficiency
Immune system
  nt06537  TCR/BCR signaling
   H00093  Combined immunodeficiency

Pathway

hsa04020 Calcium signaling pathway

hsa04151 PI3K-Akt signaling pathway

hsa04660 T cell receptor signaling pathway

Network

nt06509 DNA replication
nt06516 TNF signaling
nt06518 JAK-STAT signaling
nt06528 Calcium signaling
nt06530 PI3K signaling
nt06537 TCR/BCR signaling

Gene

(CIDX/IMD6) IL2RG [HSA:3561] [KO:K05070]
(IMD9) ORAI1 [HSA:84876] [KO:K16056]
(IMD10) STIM1 [HSA:6786] [KO:K16059]
(IMD11) CARD11 [HSA:84433] [KO:K07367]
(IMD12) MALT1 [HSA:10892] [KO:K07369]
(IMD15) IKBKB [HSA:3551] [KO:K07209]
(IMD16) TNFRSF4 [HSA:7293] [KO:K05142]
(IMD17) CD3G [HSA:917] [KO:K06452]
(IMD21) GATA2 [HSA:2624] [KO:K17894]
(IMD22) LCK [HSA:3932] [KO:K05856]
(IMD24) CTPS1 [HSA:1503] [KO:K01937]
(IMD37) BCL10 [HSA:8915] [KO:K07368]
(IMD40) DOCK2 [HSA:1794] [KO:K12367]
(IMD48) ZAP70 [HSA:7535] [KO:K07360]
(IMD50) MSN [HSA:4478] [KO:K05763]
(IMD55) GINS1 [HSA:9837] [KO:K10732]
(IMD59) HYOU1 [HSA:10525] [KO:K09486]
(IMD71) ARPC1B [HSA:10095] [KO:K05757]
(IMD85) TOM1 [HSA:10043] [KO:K26401]
(IMD97) PIK3CG [HSA:5294] [KO:K21289]
(IMD110) STK4 [HSA:6789] [KO:K04411]
(IMD112) MAP3K14 [HSA:9020] [KO:K04466]
(IMD116) CD8A [HSA:925] [KO:K06458]
(IMD119) ICOSLG [HSA:23308] [KO:K06710]
(IMD120) POLD1 [HSA:5424] [KO:K02327]
(IMD128) COPG1 [HSA:22820] [KO:K17267]
(IMD131) IRF4 [HSA:3662] [KO:K09445]
(IMD132) ITPR3 [HSA:3710] [KO:K04960]
(CCHDG) RAG1 [HSA:5896] [KO:K10628]
(CCHDG) RAG2 [HSA:5897] [KO:K10988]

Other DBs

ICD-11:

4A01.1

MeSH:

D053632

Reference

PMID:17162365

Authors

Kumar A, Teuber SS, Gershwin ME.

Title

Current perspectives on primary immunodeficiency diseases.

Journal

Clin Dev Immunol 13:223-59 (2006)
DOI:10.1080/17402520600800705

Reference

PMID:9737224

Authors

Ten RM.

Title

Primary immunodeficiencies.

Journal

Mayo Clin Proc 73:865-72 (1998)
DOI:10.4065/73.9.865

Reference

PMID:15096561

Authors

Lim MS, Elenitoba-Johnson KS.

Title

The molecular pathology of primary immunodeficiencies.

Journal

J Mol Diagn 6:59-83 (2004)
DOI:10.1016/S1525-1578(10)60493-X

Reference

PMID:18424339

Authors

Morra M, Geigenmuller U, Curran J, Rainville IR, Brennan T, Curtis J, Reichert V, Hovhannisyan H, Majzoub J, Miller DT.

Title

Genetic diagnosis of primary immune deficiencies.

Journal

Immunol Allergy Clin North Am 28:387-412, x (2008)
DOI:10.1016/j.iac.2008.01.004

Reference

PMID:17952897

Authors

Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarstrom L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J.

Title

Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee.

Journal

J Allergy Clin Immunol 120:776-94 (2007)
DOI:10.1016/j.jaci.2007.08.053

Reference

PMID:20004777 (CD40LG, CD40, CD3G, CD8A, ZAP70)

Authors

Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartrom L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J

Title

Primary immunodeficiencies: 2009 update.

Journal

J Allergy Clin Immunol 124:1161-78 (2009)
DOI:10.1016/j.jaci.2009.10.013

Reference

PMID:7883965 (IMD6)

Authors

Schmalstieg FC, Leonard WJ, Noguchi M, Berg M, Rudloff HE, Denney RM, Dave SK, Brooks EG, Goldman AS

Title

Missense mutation in exon 7 of the common gamma chain gene causes a moderate form of X-linked combined immunodeficiency.

Journal

J Clin Invest 95:1169-73 (1995)
DOI:10.1172/JCI117765

Reference

PMID:20189884 (IMD9 IMD10)

Authors

Feske S, Picard C, Fischer A

Title

Immunodeficiency due to mutations in ORAI1 and STIM1.

Journal

Clin Immunol 135:169-82 (2010)
DOI:10.1016/j.clim.2010.01.011

Reference

PMID:23374270 (IMD11)

Authors

Stepensky P, Keller B, Buchta M, Kienzler AK, Elpeleg O, Somech R, Cohen S, Shachar I, Miosge LA, Schlesier M, Fuchs I, Enders A, Eibel H, Grimbacher B, Warnatz K

Title

Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects.

Journal

J Allergy Clin Immunol 131:477-85.e1 (2013)
DOI:10.1016/j.jaci.2012.11.050

Reference

PMID:23727036 (IMD12)

Authors

Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, Chouery E, Mikhael R, Gorka O, Gewies A, Portales P, Nakayama T, Hosokawa H, Revy P, Herrod H, Le Deist F, Lefranc G, Ruland J, Geha RS

Title

A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency.

Journal

J Allergy Clin Immunol 132:151-8 (2013)
DOI:10.1016/j.jaci.2013.04.047

Reference

PMID:30337470 (IMD15)

Authors

Cardinez C, Miraghazadeh B, Tanita K, da Silva E, Hoshino A, Okada S, Chand R, Asano T, Tsumura M, Yoshida K, Ohnishi H, Kato Z, Yamazaki M, Okuno Y, Miyano S, Kojima S, Ogawa S, Andrews TD, Field MA, Burgio G, Morio T, Vinuesa CG, Kanegane H, Cook MC

Title

Gain-of-function IKBKB mutation causes human combined immune deficiency.

Journal

J Exp Med 215:2715-2724 (2018)
DOI:10.1084/jem.20180639

Reference

PMID:26215166 (IMD16)

Authors

Webb GJ, Hirschfield GM, Lane PJ

Title

OX40, OX40L and Autoimmunity: a Comprehensive Review.

Journal

Clin Rev Allergy Immunol 50:312-32 (2016)
DOI:10.1007/s12016-015-8498-3

Reference

PMID:17277165 (IMD17)

Authors

Recio MJ, Moreno-Pelayo MA, Kilic SS, Guardo AC, Sanal O, Allende LM, Perez-Flores V, Mencia A, Modamio-Hoybjor S, Seoane E, Regueiro JR

Title

Differential biological role of CD3 chains revealed by human immunodeficiencies.

Journal

J Immunol 178:2556-64 (2007)
DOI:10.4049/jimmunol.178.4.2556

Reference

PMID:21670465 (IMD21)

Authors

Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, Frucht DM, Vinh DC, Auth RD, Freeman AF, Olivier KN, Uzel G, Zerbe CS, Spalding C, Pittaluga S, Raffeld M, Kuhns DB, Ding L, Paulson ML, Marciano BE, Gea-Banacloche JC, Orange JS, Cuellar-Rodriguez J, Hickstein DD, Holland SM

Title

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Journal

Blood 118:2653-5 (2011)
DOI:10.1182/blood-2011-05-356352

Reference

PMID:22985903 (IMD22)

Authors

Hauck F, Randriamampita C, Martin E, Gerart S, Lambert N, Lim A, Soulier J, Maciorowski Z, Touzot F, Moshous D, Quartier P, Heritier S, Blanche S, Rieux-Laucat F, Brousse N, Callebaut I, Veillette A, Hivroz C, Fischer A, Latour S, Picard C

Title

Primary T-cell immunodeficiency with immunodysregulation caused by autosomal recessive LCK deficiency.

Journal

J Allergy Clin Immunol 130:1144-1152.e11 (2012)
DOI:10.1016/j.jaci.2012.07.029

Reference

PMID:24870241 (IMD24)

Authors

Martin E, Palmic N, Sanquer S, Lenoir C, Hauck F, Mongellaz C, Fabrega S, Nitschke P, Esposti MD, Schwartzentruber J, Taylor N, Majewski J, Jabado N, Wynn RF, Picard C, Fischer A, Arkwright PD, Latour S

Title

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation.

Journal

Nature 510:288-92 (2014)
DOI:10.1038/nature13386

Reference

PMID:25365219 (IMD37)

Authors

Torres JM, Martinez-Barricarte R, Garcia-Gomez S, Mazariegos MS, Itan Y, Boisson B, Rholvarez R, Jimenez-Reinoso A, del Pino L, Rodriguez-Pena R, Ferreira A, Hernandez-Jimenez E, Toledano V, Cubillos-Zapata C, Diaz-Almiron M, Lopez-Collazo E, Unzueta-Roch JL, Sanchez-Ramon S, Regueiro JR, Lopez-Granados E, Casanova JL, Perez de Diego R

Title

Inherited BCL10 deficiency impairs hematopoietic and nonhematopoietic immunity.

Journal

J Clin Invest 124:5239-48 (2014)
DOI:10.1172/JCI77493

Reference

PMID:26083206 (IMD40)

Authors

Dobbs K, Dominguez Conde C, Zhang SY, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, Massaad MJ, Rounioja S, Alwahadneh AM, Serwas NK, Capuder K, Ciftci E, Felgentreff K, Ohsumi TK, Pedergnana V, Boisson B, Haskologlu S, Ensari A, Schuster M, Moretta A, Itan Y, Patrizi O, Rozenberg F, Lebon P, Saarela J, Knip M, Petrovski S, Goldstein DB, Parrott RE, Savas B, Schambach A, Tabellini G, Bock C, Chatila TA, Comeau AM, Geha RS, Abel L, Buckley RH, Ikinciogullari A, Al-Herz W, Helminen M, Dogu F, Casanova JL, Boztug K, Notarangelo LD

Title

Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections.

Journal

N Engl J Med 372:2409-22 (2015)
DOI:10.1056/NEJMoa1413462

Reference

PMID:8202712 (IMD48)

Authors

Elder ME, Lin D, Clever J, Chan AC, Hope TJ, Weiss A, Parslow TG

Title

Human severe combined immunodeficiency due to a defect in ZAP-70, a T cell tyrosine kinase.

Journal

Science 264:1596-9 (1994)
DOI:10.1126/science.8202712

Reference

PMID:27405666 (IMD50)

Authors

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

Title

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

Journal

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

Reference

PMID:28414293 (IMD55)

Authors

Cottineau J, Kottemann MC, Lach FP, Kang YH, Vely F, Deenick EK, Lazarov T, Gineau L, Wang Y, Farina A, Chansel M, Lorenzo L, Piperoglou C, Ma CS, Nitschke P, Belkadi A, Itan Y, Boisson B, Jabot-Hanin F, Picard C, Bustamante J, Eidenschenk C, Boucherit S, Aladjidi N, Lacombe D, Barat P, Qasim W, Hurst JA, Pollard AJ, Uhlig HH, Fieschi C, Michon J, Bermudez VP, Abel L, de Villartay JP, Geissmann F, Tangye SG, Hurwitz J, Vivier E, Casanova JL, Smogorzewska A, Jouanguy E

Title

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency.

Journal

J Clin Invest 127:1991-2006 (2017)
DOI:10.1172/JCI90727

Reference

PMID:27913302 (IMD59)

Authors

Haapaniemi EM, Fogarty CL, Keskitalo S, Katayama S, Vihinen H, Ilander M, Mustjoki S, Krjutskov K, Lehto M, Hautala T, Eriksson O, Jokitalo E, Velagapudi V, Varjosalo M, Seppanen M, Kere J

Title

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1.

Journal

J Allergy Clin Immunol 139:1391-1393.e11 (2017)
DOI:10.1016/j.jaci.2016.09.050

Reference

PMID:30254128 (IMD71)

Authors

Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Alvarez-Alvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupre L, Bustamante J, Gattorno M, Aiuti A

Title

T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.

Journal

Blood 132:2362-2374 (2018)
DOI:10.1182/blood-2018-07-863431

Reference

PMID:31263572 (IMD85)

Authors

Keskitalo S, Haapaniemi EM, Glumoff V, Liu X, Lehtinen V, Fogarty C, Rajala H, Chiang SC, Mustjoki S, Kovanen P, Lohi J, Bryceson YT, Seppanen M, Kere J, Heiskanen K, Varjosalo M

Title

Dominant TOM1 mutation associated with combined immunodeficiency and autoimmune disease.

Journal

NPJ Genom Med 4:14 (2019)
DOI:10.1038/s41525-019-0088-5

Reference

PMID:33054089 (IMD97)

Authors

Thian M, Hoeger B, Kamnev A, Poyer F, Kostel Bal S, Caldera M, Jimenez-Heredia R, Huemer J, Pickl WF, Gross M, Ehl S, Lucas CL, Menche J, Hutter C, Attarbaschi A, Dupre L, Boztug K

Title

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation.

Journal

Haematologica 105:e488 (2020)
DOI:10.3324/haematol.2019.231399

Reference

PMID:22174160 (IMD110)

Authors

Nehme NT, Schmid JP, Debeurme F, Andre-Schmutz I, Lim A, Nitschke P, Rieux-Laucat F, Lutz P, Picard C, Mahlaoui N, Fischer A, de Saint Basile G

Title

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival.

Journal

Blood 119:3458-68 (2012)
DOI:10.1182/blood-2011-09-378364

Reference

PMID:29230214 (IMD112)

Authors

Schlechter N, Glanzmann B, Hoal EG, Schoeman M, Petersen BS, Franke A, Lau YL, Urban M, van Helden PD, Esser MM, Moller M, Kinnear C

Title

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency.

Journal

Front Immunol 8:1624 (2017)
DOI:10.3389/fimmu.2017.01624

Reference

PMID:11435463 (IMD116)

Authors

de la Calle-Martin O, Hernandez M, Ordi J, Casamitjana N, Arostegui JI, Caragol I, Ferrando M, Labrador M, Rodriguez-Sanchez JL, Espanol T

Title

Familial CD8 deficiency due to a mutation in the CD8 alpha gene.

Journal

J Clin Invest 108:117-23 (2001)
DOI:10.1172/JCI10993

Reference

PMID:30498080 (IMD119)

Authors

Roussel L, Landekic M, Golizeh M, Gavino C, Zhong MC, Chen J, Faubert D, Blanchet-Cohen A, Dansereau L, Parent MA, Marin S, Luo J, Le C, Ford BR, Langelier M, King IL, Divangahi M, Foulkes WD, Veillette A, Vinh DC

Title

Loss of human ICOSL results in combined immunodeficiency.

Journal

J Exp Med 215:3151-3164 (2018)
DOI:10.1084/jem.20180668

Reference

PMID:31449058 (IMD120)

Authors

Conde CD, Petronczki OY, Baris S, Willmann KL, Girardi E, Salzer E, Weitzer S, Ardy RC, Krolo A, Ijspeert H, Kiykim A, Karakoc-Aydiner E, Forster-Waldl E, Kager L, Pickl WF, Superti-Furga G, Martinez J, Loizou JI, Ozen A, van der Burg M, Boztug K

Title

Polymerase delta deficiency causes syndromic immunodeficiency with replicative stress.

Journal

J Clin Invest 129:4194-4206 (2019)
DOI:10.1172/JCI128903

Reference

PMID:33529166 (IMD128)

Authors

Bainter W, Platt CD, Park SY, Stafstrom K, Wallace JG, Peters ZT, Massaad MJ, Becuwe M, Salinas SA, Jones J, Beaussant-Cohen S, Jaber F, Yang JS, Walther TC, Orange JS, Rao C, Rakoff-Nahoum S, Tsokos M, Naseem SUR, Al-Tamemi S, Chou J, Hsu VW, Geha RS

Title

Combined immunodeficiency due to a mutation in the gamma1 subunit of the coat protein I complex.

Journal

J Clin Invest 131:140494 (2021)
DOI:10.1172/JCI140494

Reference

PMID:29408330 (IMD131)

Authors

Bravo Garcia-Morato M, Aracil Santos FJ, Briones AC, Blazquez Moreno A, Del Pozo Mate A, Dominguez-Soto A, Beato Merino MJ, Del Pino Molina L, Torres Canizales J, Marin AV, Vallespin Garcia E, Feito Rodriguez M, Plaza Lopez Sabando D, Jimenez-Reinoso A, Mozo Del Castillo Y, Sanz Santaeufemia FJ, de Lucas-Laguna R, Cardenas PP, Casamayor Polo L, Coronel Diaz M, Vales-Gomez M, Roldan Santiago E, Ferreira Cerdan A, Nevado Blanco J, Corbi AL, Reyburn HT, Regueiro JR, Lopez-Granados E, Rodriguez Pena R

Title

New human combined immunodeficiency caused by interferon regulatory factor 4 (IRF4) deficiency inherited by uniparental isodisomy.

Journal

J Allergy Clin Immunol 141:1924-1927.e18 (2018)
DOI:10.1016/j.jaci.2017.12.995

Reference

PMID:39560673 (IMD132)

Authors

Blanco E, Camps C, Bahal S, Kerai MD, Ferla MP, Rochussen AM, Handel AE, Golwala ZM, Spiridou Goncalves H, Kricke S, Klein F, Zhang F, Zinghirino F, Evans G, Keane TM, Lizot S, Kusters MAA, Iro MA, Patel SV, Morris EC, Burns SO, Radcliffe R, Vasudevan P, Price A, Gillham O, Valdebenito GE, Stewart GS, Worth A, Adams SP, Duchen M, Andre I, Adams DJ, Santili G, Gilmour KC, Hollander GA, Davies EG, Taylor JC, Griffiths GM, Thrasher AJ, Dhalla F, Kreins AY

Title

Dominant negative variants in ITPR3 impair T cell Ca2+ dynamics causing combined immunodeficiency.

Journal

J Exp Med 222:277095 (2025)
DOI:10.1084/jem.20220979

Reference

PMID:20489056 (CCHDG)

Authors

De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL

Title

Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

Journal

Blood 116:1263-71 (2010)
DOI:10.1182/blood-2010-02-267583

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