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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1964 1
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1979 6
1980 11
1981 4
1982 3
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1984 9
1985 17
1986 21
1987 19
1988 35
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1991 48
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1993 51
1994 47
1995 55
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1999 67
2000 67
2001 59
2002 56
2003 45
2004 36
2005 57
2006 36
2007 51
2008 65
2009 59
2010 50
2011 71
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2014 76
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2,179 results

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Quoted phrase not found in phrase index: "Syndrome with combined immunodeficiency"
Page 1
Gene therapy for severe combined immunodeficiencies and beyond.
Fischer A, Hacein-Bey-Abina S. Fischer A, et al. J Exp Med. 2020 Jan 6;217(2):e20190607. doi: 10.1084/jem.20190607. J Exp Med. 2020. PMID: 31826240 Free PMC article. Review.
Ex vivo retrovirally mediated gene therapy has been shown within the last 20 yr to correct the T cell immunodeficiency caused by gammac-deficiency (SCID X1) and adenosine deaminase (ADA) deficiency. The rationale was brought up by the observation of th …
Ex vivo retrovirally mediated gene therapy has been shown within the last 20 yr to correct the T cell immunodeficiency caused by gamm …
HIV and the spectrum of human disease.
Lucas S, Nelson AM. Lucas S, et al. J Pathol. 2015 Jan;235(2):229-41. doi: 10.1002/path.4449. J Pathol. 2015. PMID: 25251832 Review.
Infection with the human immunodeficiency virus (HIV) causes systemic T cell destruction and reduced cell-mediated immunity that leads to a wide range of opportunistic infections and cancers. ...Antiretroviral treatment has enabled HIV-infected persons to live with chronic …
Infection with the human immunodeficiency virus (HIV) causes systemic T cell destruction and reduced cell-mediated immunity that lead …
WHIM Syndrome-linked CXCR4 mutations drive osteoporosis.
Anginot A, Nguyen J, Abou Nader Z, Rondeau V, Bonaud A, Kalogeraki M, Boutin A, Lemos JP, Bisio V, Koenen J, Hanna Doumit Sakr L, Picart A, Coudert A, Provot S, Dulphy N, Aurrand-Lions M, Mancini SJC, Lazennec G, McDermott DH, Guidez F, Blin-Wakkach C, Murphy PM, Cohen-Solal M, Espéli M, Rouleau M, Balabanian K. Anginot A, et al. Nat Commun. 2023 Apr 12;14(1):2058. doi: 10.1038/s41467-023-37791-4. Nat Commun. 2023. PMID: 37045841 Free PMC article.
WHIM Syndrome is a rare immunodeficiency caused by gain-of-function CXCR4 mutations. Here we report a decrease in bone mineral density in 25% of WHIM patients and bone defects leading to osteoporosis in a WHIM mouse model. Imbalanced bone tissue is observed i …
WHIM Syndrome is a rare immunodeficiency caused by gain-of-function CXCR4 mutations. Here we report a decrease in bone mineral …
DOCK8 deficiency.
Su HC, Jing H, Zhang Q. Su HC, et al. Ann N Y Acad Sci. 2011 Dec;1246:26-33. doi: 10.1111/j.1749-6632.2011.06295.x. Ann N Y Acad Sci. 2011. PMID: 22236427 Review.
The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome and some forms of combined immunodeficiency without elevated serum IgE has led to studies into the immunopathogenesis of t …
The discovery that loss-of-function mutations in the gene DOCK8 are responsible for most forms of autosomal recessive hyper-IgE syndrome …
Clinical and functional spectrum of RAC2-related immunodeficiency.
Donkó Á, Sharapova SO, Kabat J, Ganesan S, Hauck FH, Bergerson JRE, Marois L, Abbott J, Moshous D, Williams KW, Campbell N, Martin PL, Lagresle-Peyrou C, Trojan T, Kuzmenko NB, Deordieva EA, Raykina EV, Abers MS, Abolhassani H, Barlogis V, Milla C, Hall G, Mousallem T, Church J, Kapoor N, Cros G, Chapdelaine H, Franco-Jarava C, Lopez-Lerma I, Miano M, Leiding JW, Klein C, Stasia MJ, Fischer A, Hsiao KC, Martelius T, Sepännen MRJ, Barmettler S, Walter J, Masmas TN, Mukhina AA, Falcone EL, Kracker S, Shcherbina A, Holland SM, Leto TL, Hsu AP. Donkó Á, et al. Blood. 2024 Apr 11;143(15):1476-1487. doi: 10.1182/blood.2023022098. Blood. 2024. PMID: 38194689
Mutations in the small Rho-family guanosine triphosphate hydrolase RAC2, critical for actin cytoskeleton remodeling and intracellular signal transduction, are associated with neonatal severe combined immunodeficiency (SCID), infantile neutrophilic disorder resemblin …
Mutations in the small Rho-family guanosine triphosphate hydrolase RAC2, critical for actin cytoskeleton remodeling and intracellular signal …
Evaluation of Clinical and Immunological Alterations Associated with ICF Syndrome.
Bilgic Eltan S, Nain E, Catak MC, Ezen E, Sefer AP, Karimi N, Kiykim A, Kolukisa B, Baser D, Bulutoglu A, Kasap N, Yorgun Altunbas M, Yalcin Gungoren E, Kendir Demirkol Y, Kutlug S, Hancioglu G, Dilek F, Yildiran A, Ozen A, Karakoc-Aydiner E, Erman B, Baris S. Bilgic Eltan S, et al. J Clin Immunol. 2023 Dec 22;44(1):26. doi: 10.1007/s10875-023-01620-6. J Clin Immunol. 2023. PMID: 38129713
PURPOSE: Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive combined immunodeficiency. ...Perturbed T-cell responses with increased cT(FH) and decreased Treg cells may provide further insight …
PURPOSE: Immunodeficiency with centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive co …
Defining combined immunodeficiency.
Roifman CM, Somech R, Kavadas F, Pires L, Nahum A, Dalal I, Grunebaum E. Roifman CM, et al. J Allergy Clin Immunol. 2012 Jul;130(1):177-83. doi: 10.1016/j.jaci.2012.04.029. Epub 2012 Jun 2. J Allergy Clin Immunol. 2012. PMID: 22664165
BACKGROUND: Although the extreme condition of typical profound T-cell dysfunction (TD), severe combined immunodeficiency (SCID), has been carefully defined, we are currently in the process of better defining less typical T-cell deficiencies, which tend to present wi …
BACKGROUND: Although the extreme condition of typical profound T-cell dysfunction (TD), severe combined immunodeficiency (SCID …
HyperIgE in hypomorphic recombination-activating gene defects.
Castiello MC, Brandas C, Capo V, Villa A. Castiello MC, et al. Curr Opin Immunol. 2023 Feb;80:102279. doi: 10.1016/j.coi.2022.102279. Epub 2022 Dec 16. Curr Opin Immunol. 2023. PMID: 36529093 Free article. Review.
Increased immunogloblulin-E (IgE) levels associated with eosinophilia represent a common finding observed in Omenn syndrome, a severe immunodeficiency caused by decreased V(D)J recombination, leading to restricted T- and B-cell receptor repertoire. ...The lac …
Increased immunogloblulin-E (IgE) levels associated with eosinophilia represent a common finding observed in Omenn syndrome, a …
Graft-vs-host reaction.
Grogan TM, Odom RB, Burgess JH. Grogan TM, et al. Arch Dermatol. 1977 Jun;113(6):806-12. Arch Dermatol. 1977. PMID: 17368
Observations surrounding the clinical manifestations and pathological studies of a neonate who died at 9 weeks of age, indicate that distinctive cutaneous, histopathologic, and ultrastructural findings occur when graft-vs-host reaction (GVHR) complicates combined im …
Observations surrounding the clinical manifestations and pathological studies of a neonate who died at 9 weeks of age, indicate that …
Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.
Ozturk E, Catak MC, Kiykim A, Baser D, Bilgic Eltan S, Yalcin K, Kasap N, Nain E, Bulutoglu A, Akgun G, Can Y, Sefer AP, Babayeva R, Caki-Kilic S, Tezcan Karasu G, Yesilipek A, Ozen A, Karakoc-Aydiner E, Baris S. Ozturk E, et al. J Clin Immunol. 2022 Jul;42(5):1036-1050. doi: 10.1007/s10875-022-01262-0. Epub 2022 Apr 22. J Clin Immunol. 2022. PMID: 35451701
PURPOSE: Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity characterized by absence or loss of function in T cells. ...CONCLUSION: This study identifies diagnostic and therapeutic approaches predictive of fav …
PURPOSE: Severe combined immunodeficiency (SCID) is one of the most severe forms of inborn errors of immunity characterized by …
2,179 results