Immunodeficiency affecting cellular and humoral Immunity: Difference between revisions

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==DCLRE1C deficiency==
==DCLRE1C deficiency==
*[[Autosomal recessive]] (AR) transmission.   
*[[Autosomal recessive]] (AR) transmission.   
*It is caused by mutation in the gene encoding [[Artemis (protein)|Artemis]] in [[chromosome 10]].<ref>{{Cite journal
*It is caused by [[mutation]] in the [[gene]] encoding [[Artemis (protein)|Artemis]] in [[chromosome 10]].<ref>{{Cite journal
  | author = [[L. Li]], [[D. Drayna]], [[D. Hu]], [[A. Hayward]], [[S. Gahagan]], [[H. Pabst]] & [[M. J. Cowan]]
  | author = [[L. Li]], [[D. Drayna]], [[D. Hu]], [[A. Hayward]], [[S. Gahagan]], [[H. Pabst]] & [[M. J. Cowan]]
  | title = The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p
  | title = The gene for severe combined immunodeficiency disease in Athabascan-speaking Native Americans is located on chromosome 10p

Revision as of 17:41, 14 December 2018


Immunodeficiency Main Page

Home

Overview

Classification

Immunodeficiency Affecting Cellular and Humoral Immunity

Combined Immunodeficiency

Predominantly Antibody Deficiency

Diseases of Immune Dysregulation

Congenital Defects of Phagocytes

Defects in Intrinsic and Innate Immunity

Auto-inflammatory Disorders

Complement Deficiencies

Phenocopies of Primary Immunodeficiency

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ali Akram, M.B.B.S.[2], Zahir Ali Shaikh, MD[3], Anmol Pitliya, M.B.B.S. M.D.[4], Syed Musadiq Ali M.B.B.S.[5]

Overview

  • Immunodeficiency disorders are associated with or predispose patients to various complications, including infections, autoimmune disorders, and lymphomas and other cancers. Primary immunodeficiencies are genetically determined and can be hereditary; secondary immunodeficiencies are acquired and much more common. combined immune defect affecting both types of ‘acquired’ immunity, i.e. both cellular and humoral responses. Acquired immunity remembers when it encounters an invading foreign cell or molecule (‘antigen’) and quickly mounts a specific response on subsequent encounters. Cellular acquired responses are mediated by T cells (also called T lymphocytes), which kill infected cells, help B cells and control the immune response. Humoral immunity is mediated by B cells (B lymphocytes) which produce antibodies (immunoglobulins) that help T cells and other immune cells to recognize and attack antigens.

Classification


 
 
Immunodeficiency affecting cellular and humoral immunity
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Severe combined immunodeficiencies SCID, defined
by CD3 T cell lymphopenia
 
Combined immunodeficiencies generally less pronounced
than severe combined immunodeficiency
 


Severe Combined Immunodeficiency (SCID)


 
 
 
 
 
 
 
 
 
Severe combined immunodeficiencies SCID, defined by CD3 T cell lymphopenia
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD19 NL: SCID T-ve B+ve
 
 
 
 
 
 
 
CD19 ↓: SCID T-ve B-ve
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
SCID T-ve B+ve NK-ve
 
 
 
SCID T-ve B+ve NK+ve
 
SCID T-ve B-ve NK-ve
 
 
 
SCID T-ve B-ve NK+ve
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
yc deficiency
 
 
 
 
IL7Ra .
 
 
ADA def
 
Microcephaly present
 
 
Microcephaly absent
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
JAK-3 def
 
 
 
 
CD3D, CD3E, CD247
 
 
Reticular dysgenesis
 
 
 
DNA Ligase IV def
 
 
 
RAG1/2 def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD45 def
 
 
 
 
 
 
 
XLF def
 
 
 
DCLRE1C def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Coronin-1A def
 
 
 
 
 
 
 
DNA PKcs def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Winged helix def
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 


Combined Immunodeficiencies Generally Less Pronounced than Severe Combined Immunodeficiency


 
 
 
 
 
 
 
 
 
 
 
 
 
Combined immunodeficiencies generally less pronounced than severe combined immunodeficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Low CD4: MHC II Expression?
 
 
Low CD8
 
 
Low B Cells
 
 
 
Ig: Often Normal
 
 
Ig Low
 
 
Normal Ig but Low Specific Antibody Response
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Absent: MHCII deficiency
 
 
 
CD8 deficiency
 
 
 
DOCK8 deficiency
 
 
 
 
CD3Y deficiency
 
 
 
DOCK2 deficiency
 
 
 
IL2IR deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Present: MAGT 1 deficiency,LCK deficiency, UNC119 deficiency
 
 
 
ZAP70 deficiency
 
 
 
MST1 deficiency
 
 
 
 
RHOH deficiency
 
 
 
CARDII deficiency(LOF)
 
 
 
MALT1 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
MHC1 deficiency
 
 
 
IL21 deficiency
 
 
 
 
TCR alpha deficiency
 
 
 
BCL10 deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
NIK deficiency
 
 
 
 
BCL11B deficiency
 
 
 
IKBKB deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Moesin deficiency
 
 
 
 
OX40 deficiency
 
 
 
ICOS deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
LAT deficiency
 
 
 
TFRC deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
RelB deficiency
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
CD40 ligand deficiency(CD154)
 
 
 
 
 
 
 


γc (IL-2Rγ) deficiency

JAK-3 deficiency

IL7a

CD3D

CD3E

CD247

CD45 deficiency

Coronin-1A deficiency

Winged helix deficiency/Nude SCID

ADA deficiency

Reticular dysgenesis

DNA Ligase IV deficiency

CERNUNNOS/XLF deficiency

DNA PKcs deficiency

RAG 1/2 deficiency

DCLRE1C deficiency

Combined Immunodeficiencies Generally Less Pronounced than Severe Combined Immunodeficiency

Major Histocompatibility Complex II Deficiency

  • Major Histocompatibility Complex class II deficiency, called as the bare lymphocyte syndrome type II.[31]
  • It is a rare autosomal recessive disorder.
  • Lack of constitutive and inducible MHC class II expression in all cell types and tissues.

Magnesium Transporter Gene (MAGT1) Deficiency, Lymphocyte-Specific Protein Tyrosine Kinase (LCK) Deficiency, UNC119 Deficiency

  • Magnesium transporter gene (MAGT1) deficiency, T-cell tyrosine kinase Lck deficiency and Signaling adaptor protein Uncoordinated 119 (Unc119) deficiency related with a condition called Idiopathic CD4 lymphopenia. [32]
  • MAGT1 deficiency stops the Mg (2+) influx, which impairs responses to antigen receptor engagement and successive steps like activation of phospholipase Cγ1 and Ca(2+) influx in T cells but not B cells.[33]
  • Lck is vital for both CD4 and CD8 T-cell development and function. LCK deficiency decrease T cell proliferation.[34]
  • Unc119 is necessary for activation of T-cell tyrosine kinase Lck. Unc119-deficiency reduce the activity of LCK and decrease interleukin 2 production and cellular proliferation.[35]

CD8 Deficiency

  • CD8 glycoproteins play vital role in both the maturation and function of MHC class I-restricted T lymphocytes.[36]
  • CD8 deficiency is autosomal recessive familial condition.
  • There is single mutation in the CD8α gene that is due to missense mutation (gly90-->ser) in both alleles of the immunoglobulin domain of the CD8 alpha gene.

Zeta-Chain-Associated Protein Kinase 70 (ZAP70) Deficiency

  • ZAP70 gene encodes a tyrosine kinase that is important for T-cell signaling.[37]
  • ZAP70 deficiency, results in loss of the activity of this kinase.
  • ZAP70 is expressed mostly in T and NK cells, deficiency causes dysregulated T cells.[38]

Major Histocompatibility Complex 1 Deficiency

  • It is autosomal recessive disorder also called as Bare lymphocyte syndrome type I.[39]
  • It is extremely rare condition, less than 30 patients reported worldwide.
  • There is homozygous inactivating mutation of transporter associated with antigen processing (TAP), which helps in peptide loading on MHC1.[40]

Dedicator of Cytokinesis 8 (DOCK8) Deficiency

Macrophage Stimulating 1 Deficiency

  • Macrophage stimulating 1 encoded by gene contains four kringle domains and a serine protease domain.[42]
  • Macrophage Stimulating 1 (MST1) deficiency causes increased cell death of naive and proliferating T cells.[43]
  • MST1-deficient T cells poorly expressed the transcription factor FOXO1, the IL-7 receptor, and BCL2.

Interleukin 21 Deficiency

  • IL21 is produced by activated T cells.[44]
  • IL21 targets lymphoid and myeloid cells and regulates innate and acquired immune responses.
  • Homozygous loss-of-function mutations in the interleukin-21 receptor gene is one cause of IL21 deficiency.[45]
  • IL-21 deficiency causes impaired proliferation and immunoglobulin class-switching in B cells.

NF-κB inducing kinase Deficiency

  • It is caused by mutation in MAP3K14.

Moesin Deficiency

  • It present early in life with lymphopenia and hypogammaglobulinemia.
  • There is poor immune response to vaccine antigens, and increased susceptibility to bacterial and varicella zoster virus (VZV) infections.
  • This immunodeficiency is caused by genetic defects of the moesin (MSN) gene.

CD3Y Deficiency

  • Deficiency of the CD3Y component of the TcR/CD3 complex is associated with a long-term severe defect of peripheral blood CD4+ CD45RA+ and CD8+ lymphocytes, whereas CD4+CD45RO+, B and natural killer lymphocytes are unaffected.[49]
  • These results suggest that the CD3Y site of the TcR/CD3 complex is required for the peripheral representation of certain T cell types.

RHOH Deficiency

  • Ras homolog gene family H (RhoH) is a membrane-bound adaptor protein that helps in proximal T-cell receptor signaling.[50]
  • Ras homolog gene family H (RHOH) deficiency leads to T cell defects and persistent HPV infections.[51]
  • RHOH encodes an atypical Rho GTPase expressed predominantly in hematopoietic cells.

T-cell Receptor Alpha Deficiency

  • The alpha chain is synthesized by recombination joining of single V segment with a J segment. Recombination of many different V segments with several J segments provides a wide range of antigen recognition.[52]
  • T-cell receptor-alpha deficiency is autosomal recessive disorder.[53]
  • It is caused by homozygous mutation in the TRAC gene on chromosome 14q11.

BCL11B Deficiency

  • BCL11B is required for T-cell differentiation and have vital role in the transcriptional regulation of these genes.[54]
  • BCL11B gene encodes a zinc-finger transcription factor involved in hematopoietic progenitor cell development.[55]
  • Bcl11b deficiency results in structural brain defects, reduced learning capacity, and impaired immune cell development.[56]

OX40 Deficiency

  • It is an autosomal recessive disorder. [57]
  • OX40 is a co-stimulatory receptor expressed on activated T cells.
  • Its ligand, OX40L, is expressed on various cell types, including endothelial cells.
  • OX40L was abundantly expressed in Kaposi Sarcoma lesions.
  • OX40 deficiency causes low proportion of effector memory CD4(+) T cells in the peripheral blood.

LAT Deficiency

  • Linker for Activation of T cell (LAT) is substrate of the ZAP70 tyrosine kinase.[58]
  • LAT is phosphorylated on multiple tyrosines and serve as docking sites for many effector molecules.
  • Germ line LAT deficiency causes early thymocyte developmental arrest and complete absence of peripheral T cells.
  • LAT mutations results in premature LAT truncation, diminishing known tyrosine phosphorylation sites.

DOCK2 Deficiency

  • Dedicator of cytokinesis 2 gene (DOCK2) deficiency is autosomal recessive disorder.[59]
  • It causes defect in the chemokine-induced migration and actin polymerization.
  • DOCK2 deficiency affects T cells, B cells function and NK-cell degranulation.

CARD11 Deficiency

  • It is autosomal recessive primary immunodeficiency with normal numbers of T and B lymphocytes, but defective intracellular signaling.[60]
  • Caspase recruitment domain 11 (CARD11) is fundamental signaling component that mediates TCR-induced NF-kappa B activation.[61]
  • Deficiency in CARD11 proceeds to impaired activation of NF-kappa B and also defect in interleukin-2 (IL-2) production.

BCL10 Deficiency

  • BCL10 is an autosomal recessive disorder.[62]
  • Complete BCL10 deficiency affects both hematopoietic and nonhematopoietic immunity.
  • It presents with Homozygous loss-of-expression and loss-of-function mutation of BCL10.
  • NF-κB-mediated fibroblast functions were drastically affected.

IKBKB Deficiency

  • IKBKB encodes IκB kinase 2 (IKK2, also known as IKKβ).[63]
  • Deficiency of IKBKB causes loss of expression of IKK2, also known as IKK-nuclear factor κB (NF-κB) pathway.
  • IKBKB deficiency results in impairment of adaptive and innate immunity.

ICOS Deficiency

  • Inducible co-stimulator (ICOS) deficiency causes combined B- and T-cell immunodeficiency.[64]
  • Genetic diagnosis is the only tool to differentiate ICOS deficiency from other immunological defects.
  • Antibody deficiency, autoimmunity, and combined immunodeficiency should be screened for ICOS mutations.
  • ICOS deficiency was the first monogenic defect that cause common variable immunodeficiency (CVID)-like disease.

TFRC Deficiency

  • TFRC deficiency is autosomal recessive disorder.[65]
  • TFRC gene encodes the transferrin receptor, which is essential for cellular iron uptake.
  • TFRC gene mutation causes defected TfR1 internalization motif and receptor endocytosis.

ReIB Deficiency

  • RelB is an NF-κB family transcription factor.[66]
  • Homozygous mutation in the gene for the NFκB transcription factor RelB causes repeated infection.
  • This mutation introduces a premature stop codon, which results in an ablation of RelB expression.
  • There is diminished antibody response to immunizations.

CD40 ligand Deficiency

  • CD40 ligand (CD40L) deficiency leads to opportunistic infections.[67]
  • CD40 ligand (CD154), present on activated CD4-positive T cells.[68]
  • Ligand for CD40 (CD40L) is a membrane glycoprotein on activated T cells that induces B cell proliferation and immunoglobulin secretion.[69]
  • CD40L defects results in the failure of B cells to undergo immunoglobulin class switching.

IL21R Deficiency

  • IL21R is type I cytokine receptors, which also include receptors for hematopoietic growth factors.[70]
  • IL21R deficiency ceases proliferation and maturation of natural killer (NK) and B-cell.
  • IL21R deficiency also stop immunoglobulin class-switching in B cells, cytokine production in T cells, and NK cell cytotoxicity.[45]

MALT1 Deficiency

  • MALT1 vital for immune receptor-driven signaling pathways which leads to NF-κB activation.[71]
  • MALT1 deficiency leads to reduced T cell proliferation, defective IL-2 and TNF-α production, as well as impaired Th17 differentiation.
  • MALT1 deficiency also impaired nuclear factor-κB activation and IL-2 production.[72]

References

  1. ↑ W. H. HITZIG & H. WILLI (1961). "[Hereditary lymphoplasmocytic dysgenesis ("alymphocytosis with agammaglobulinemia")]". Schweizerische medizinische Wochenschrift. 91: 1625–1633. PMID 13907792. Unknown parameter |month= ignored (help)
  2. ↑ Fred S. Rosen (2002). "Successful gene therapy for severe combined immunodeficiency". The New England journal of medicine. 346 (16): 1241–1243. doi:10.1056/NEJM200204183461612. PMID 11961154. Unknown parameter |month= ignored (help)
  3. ↑ F. Candotti, S. A. Oakes, J. A. Johnston, S. Giliani, R. F. Schumacher, P. Mella, M. Fiorini, A. G. Ugazio, R. Badolato, L. D. Notarangelo, F. Bozzi, P. Macchi, D. Strina, P. Vezzoni, R. M. Blaese, J. J. O'Shea & A. Villa (1997). "Structural and functional basis for JAK3-deficient severe combined immunodeficiency". Blood. 90 (10): 3996–4003. PMID 9354668. Unknown parameter |month= ignored (help)
  4. ↑ Joseph L. Roberts, Andrea Lengi, Stephanie M. Brown, Min Chen, Yong-Jie Zhou, John J. O'Shea & Rebecca H. Buckley (2004). "Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation". Blood. 103 (6): 2009–2018. doi:10.1182/blood-2003-06-2104. PMID 14615376. Unknown parameter |month= ignored (help)
  5. ↑ A. Puel, S. F. Ziegler, R. H. Buckley & W. J. Leonard (1998). "Defective IL7R expression in T(-)B(+)NK(+) severe combined immunodeficiency". Nature genetics. 20 (4): 394–397. doi:10.1038/3877. PMID 9843216. Unknown parameter |month= ignored (help)
  6. ↑ C. M. Roifman, J. Zhang, D. Chitayat & N. Sharfe (2000). "A partial deficiency of interleukin-7R alpha is sufficient to abrogate T-cell development and cause severe combined immunodeficiency". Blood. 96 (8): 2803–2807. PMID 11023514. Unknown parameter |month= ignored (help)
  7. ↑ P. van den Elsen, G. Bruns, D. S. Gerhard, D. Pravtcheva, C. Jones, D. Housman, F. A. Ruddle, S. Orkin & C. Terhorst (1985). "Assignment of the gene coding for the T3-delta subunit of the T3-T-cell receptor complex to the long arm of human chromosome 11 and to mouse chromosome 9". Proceedings of the National Academy of Sciences of the United States of America. 82 (9): 2920–2924. PMID 3857625. Unknown parameter |month= ignored (help)
  8. ↑ Grace P. Yu, Kari C. Nadeau, David R. Berk, Genevieve de Saint Basile, Nathalie Lambert, Perrine Knapnougel, Joseph Roberts, Kristina Kavanau, Elizabeth Dunn, E. Richard Stiehm, David B. Lewis, Dale T. Umetsu, Jennifer M. Puck & Morton J. Cowan (2011). "Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID". Pediatric transplantation. 15 (7): 733–741. doi:10.1111/j.1399-3046.2011.01563.x. PMID 21883749. Unknown parameter |month= ignored (help)
  9. ↑ D. P. Gold, J. J. van Dongen, C. C. Morton, G. A. Bruns, P. van den Elsen, A. H. Geurts van Kessel & C. Terhorst (1987). "The gene encoding the epsilon subunit of the T3/T-cell receptor complex maps to chromosome 11 in humans and to chromosome 9 in mice". Proceedings of the National Academy of Sciences of the United States of America. 84 (6): 1664–1668. PMID 2882512. Unknown parameter |month= ignored (help)
  10. ↑ A. M. Weissman, D. Hou, D. G. Orloff, W. S. Modi, H. Seuanez, S. J. O'Brien & R. D. Klausner (1988). "Molecular cloning and chromosomal localization of the human T-cell receptor zeta chain: distinction from the molecular CD3 complex". Proceedings of the National Academy of Sciences of the United States of America. 85 (24): 9709–9713. PMID 2974162. Unknown parameter |month= ignored (help)
  11. ↑ M. F. Seldin, H. C. Morse, R. C. LeBoeuf & A. D. Steinberg (1988). "Establishment of a molecular genetic map of distal mouse chromosome 1: further definition of a conserved linkage group syntenic with human chromosome 1q". Genomics. 2 (1): 48–56. PMID 3384439. Unknown parameter |month= ignored (help)
  12. ↑ Lawrence R. Shiow, David W. Roadcap, Kenneth Paris, Susan R. Watson, Irina L. Grigorova, Tonya Lebet, Jinping An, Ying Xu, Craig N. Jenne, Niko Foger, Ricardo U. Sorensen, Christopher C. Goodnow, James E. Bear, Jennifer M. Puck & Jason G. Cyster (2008). "The actin regulator coronin 1A is mutant in a thymic egress-deficient mouse strain and in a patient with severe combined immunodeficiency". Nature immunology. 9 (11): 1307–1315. doi:10.1038/ni.1662. PMID 18836449. Unknown parameter |month= ignored (help)
  13. ↑ M. Schorpp, M. Hofmann, T. N. Dear & T. Boehm (1997). "Characterization of mouse and human nude genes". Immunogenetics. 46 (6): 509–515. PMID 9321431.
  14. ↑ Saulius Zuklys, Adam Handel, Saule Zhanybekova, Fatima Govani, Marcel Keller, Stefano Maio, Carlos E. Mayer, Hong Ying Teh, Katrin Hafen, Giuseppe Gallone, Thomas Barthlott, Chris P. Ponting & Georg A. Hollander (2016). "Foxn1 regulates key target genes essential for T cell development in postnatal thymic epithelial cells". Nature immunology. 17 (10): 1206–1215. doi:10.1038/ni.3537. PMID 27548434. Unknown parameter |month= ignored (help)
  15. ↑ C. Pignata, M. Fiore, V. Guzzetta, A. Castaldo, G. Sebastio, F. Porta & A. Guarino (1996). "Congenital Alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency in two sibs". American journal of medical genetics. 65 (2): 167–170. doi:10.1002/(SICI)1096-8628(19961016)65:2<167::AID-AJMG17>3.0.CO;2-O. PMID 8911612. Unknown parameter |month= ignored (help)
  16. ↑ S. Amorosi, M. D'Armiento, G. Calcagno, I. Russo, M. Adriani, A. M. Christiano, L. Weiner, J. L. Brissette & C. Pignata (2008). "FOXN1 homozygous mutation associated with anencephaly and severe neural tube defect in human athymic Nude/SCID fetus". Clinical genetics. 73 (4): 380–384. doi:10.1111/j.1399-0004.2008.00977.x. PMID 18339010. Unknown parameter |month= ignored (help)
  17. ↑ Lizzy Rivers & H. Bobby Gaspar (2015). "Severe combined immunodeficiency: recent developments and guidance on clinical management". Archives of disease in childhood. 100 (7): 667–672. doi:10.1136/archdischild-2014-306425. PMID 25564533. Unknown parameter |month= ignored (help)
  18. ↑ Linda M. Griffith, Morton J. Cowan, Luigi D. Notarangelo, Jennifer M. Puck, Rebecca H. Buckley, Fabio Candotti, Mary Ellen Conley, Thomas A. Fleisher, H. Bobby Gaspar, Donald B. Kohn, Hans D. Ochs, Richard J. O'Reilly, J. Douglas Rizzo, Chaim M. Roifman, Trudy N. Small & William T. Shearer (2009). "Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management". The Journal of allergy and clinical immunology. 124 (6): 1152–1160. doi:10.1016/j.jaci.2009.10.022. PMID 20004776. Unknown parameter |month= ignored (help)
  19. ↑ H. Ratech, M. A. Greco, G. Gallo, D. L. Rimoin, H. Kamino & R. Hirschhorn (1985). "Pathologic findings in adenosine deaminase-deficient severe combined immunodeficiency. I. Kidney, adrenal, and chondro-osseous tissue alterations". The American journal of pathology. 120 (1): 157–169. PMID 4014441. Unknown parameter |month= ignored (help)
  20. ↑ R. Hirschhorn, P. S. Paageorgiou, H. H. Kesarwala & L. T. Taft (1980). "Amerioration of neurologic abnormalities after "enzyme replacement" in adenosine deaminase deficiency". The New England journal of medicine. 303 (7): 377–380. doi:10.1056/NEJM198008143030706. PMID 6156414. Unknown parameter |month= ignored (help)
  21. ↑ M. E. Bollinger, F. X. Arredondo-Vega, I. Santisteban, K. Schwarz, M. S. Hershfield & H. M. Lederman (1996). "Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency". The New England journal of medicine. 334 (21): 1367–1371. doi:10.1056/NEJM199605233342104. PMID 8614422. Unknown parameter |month= ignored (help)
  22. ↑ M. S. Hershfield (1995). "PEG-ADA: an alternative to haploidentical bone marrow transplantation and an adjunct to gene therapy for adenosine deaminase deficiency". Human mutation. 5 (2): 107–112. doi:10.1002/humu.1380050202. PMID 7749407.
  23. ↑ R. H. Buckley, S. E. Schiff, R. I. Schiff, L. Markert, L. W. Williams, J. L. Roberts, L. A. Myers & F. E. Ward (1999). "Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency". The New England journal of medicine. 340 (7): 508–516. doi:10.1056/NEJM199902183400703. PMID 10021471. Unknown parameter |month= ignored (help)
  24. ↑ R. J. Levinsky & K. Tiedeman (1983). "Successful bone-marrow transplantation for reticular dysgenesis". Lancet (London, England). 1 (8326 Pt 1): 671–672. PMID 6132037. Unknown parameter |month= ignored (help)
  25. ↑ M. O'Driscoll, K. M. Cerosaletti, P. M. Girard, Y. Dai, M. Stumm, B. Kysela, B. Hirsch, A. Gennery, S. E. Palmer, J. Seidel, R. A. Gatti, R. Varon, M. A. Oettinger, H. Neitzel, P. A. Jeggo & P. Concannon (2001). "DNA ligase IV mutations identified in patients exhibiting developmental delay and immunodeficiency". Molecular cell. 8 (6): 1175–1185. PMID 11779494. Unknown parameter |month= ignored (help)
  26. ↑ Dietke Buck, Laurent Malivert, Regina de Chasseval, Anne Barraud, Marie-Claude Fondaneche, Ozden Sanal, Alessandro Plebani, Jean-Louis Stephan, Markus Hufnagel, Francoise le Deist, Alain Fischer, Anne Durandy, Jean-Pierre de Villartay & Patrick Revy (2006). "Cernunnos, a novel nonhomologous end-joining factor, is mutated in human immunodeficiency with microcephaly". Cell. 124 (2): 287–299. doi:10.1016/j.cell.2005.12.030. PMID 16439204. Unknown parameter |month= ignored (help)
  27. ↑ J. D. Sipley, J. C. Menninger, K. O. Hartley, D. C. Ward, S. P. Jackson & C. W. Anderson (1995). "Gene for the catalytic subunit of the human DNA-activated protein kinase maps to the site of the XRCC7 gene on chromosome 8". Proceedings of the National Academy of Sciences of the United States of America. 92 (16): 7515–7519. PMID 7638222. Unknown parameter |month= ignored (help)
  28. ↑ K. Schwarz, G. H. Gauss, L. Ludwig, U. Pannicke, Z. Li, D. Lindner, W. Friedrich, R. A. Seger, T. E. Hansen-Hagge, S. Desiderio, M. R. Lieber & C. R. Bartram (1996). "RAG mutations in human B cell-negative SCID". Science (New York, N.Y.). 274 (5284): 97–99. PMID 8810255. Unknown parameter |month= ignored (help)
  29. ↑ J. L. Stephan, V. Vlekova, F. Le Deist, S. Blanche, J. Donadieu, G. De Saint-Basile, A. Durandy, C. Griscelli & A. Fischer (1993). "Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients". The Journal of pediatrics. 123 (4): 564–572. PMID 8410508. Unknown parameter |month= ignored (help)
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  47. ↑ Rezaei, Nima, Asghar Aghamohammadi, and Luigi Notarangelo. Primary immunodeficiency diseases : definition, diagnosis, and management. Berlin, Germany: Springer, 2016. Print
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  53. ↑ Morgan NV, Goddard S, Cardno TS, McDonald D, Rahman F, Barge D, Ciupek A, Straatman-Iwanowska A, Pasha S, Guckian M, Anderson G, Huissoon A, Cant A, Tate WP, Hambleton S, Maher ER (February 2011). "Mutation in the TCRα subunit constant gene (TRAC) leads to a human immunodeficiency disorder characterized by a lack of TCRαβ+ T cells". J. Clin. Invest. 121 (2): 695–702. doi:10.1172/JCI41931. PMC 3026716. PMID 21206088.
  54. ↑ Kastner P, Chan S, Vogel WK, Zhang LJ, Topark-Ngarm A, Golonzhka O, Jost B, Le Gras S, Gross MK, Leid M (August 2010). "Bcl11b represses a mature T-cell gene expression program in immature CD4(+)CD8(+) thymocytes". Eur. J. Immunol. 40 (8): 2143–54. doi:10.1002/eji.200940258. PMC 2942964. PMID 20544728.
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