無ガンマグロブリン血症、無γグロブリン血症
WordNet
- a rare immunological disorder characterized by the virtual absence of gamma globulin in the blood and consequent susceptibility to infection
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/12/03 23:08:23」(JST)
[Wiki en表示]
| Hypogammaglobulinemia |
| Classification and external resources |
| Specialty |
hematology |
| ICD-10 |
D80.0-D80.1 |
| ICD-9-CM |
279.00 |
| DiseasesDB |
6426 |
| MedlinePlus |
001307 |
| eMedicine |
med/1120 ped/54 |
| Patient UK |
Hypogammaglobulinemia |
| MeSH |
D000361 |
Hypogammaglobulinemia is a type of primary immune deficiency disease.[1]
Hypogammaglobulinemia is a characteristic of common variable immunodeficiency.[2]
Contents
- 1 Terminology
- 2 Types
- 3 References
- 4 External links
Terminology
"Hypogammaglobulinemia" is largely synonymous with "agammaglobulinemia". When the latter term is used (as in "X-linked agammaglobulinemia") it implies that gamma globulins are not merely reduced, but completely absent. Modern assays have allowed most agammaglobulinemias to be more precisely defined as hypogammaglobulinemias,[3] but the distinction is not usually clinically relevant.
"Hypogammaglobulinemia" is distinguished from dysgammaglobulinemia, which is a reduction in some types of gamma globulins, but not others.[4]
Types
| Type |
OMIM |
Gene |
| AGM1 |
601495 |
IGHM |
| AGM2 |
613500 |
IGLL1 |
| AGM3 |
613501 |
CD79A |
| AGM4 |
613502 |
BLNK |
| AGM5 |
613506 |
LRRC8A |
| AGM6 |
612692 |
CD79B |
References
- ^ "hypogammaglobulinemia" at Dorland's Medical Dictionary
- ^ "common variable immunodeficiency" at Dorland's Medical Dictionary
- ^ "agammaglobulinemia" at Dorland's Medical Dictionary
- ^ "Dysgammaglobulinemia" at Dorland's Medical Dictionary
External links
- "Hypogammaglobulinemia" at Dorland's Medical Dictionary
- Rose, M. E.; Lang, D. M. (2006). "Evaluating and managing hypogammaglobulinemia". Cleveland Clinic journal of medicine 73 (2): 133–7, 140, 143–4. PMID 16478038.
- Robert Y Li, et al.: "Hypogammaglobulinemia", Medscape. Accessed 2009-07-17.
- Saul Greenberg: "Hypogammaglobulinemia ". Accessed 2009-07-17.
|
Immune disorders: Lymphoid and complement immunodeficiency (D80–D85, 279.0–4)
|
|
| Primary |
| Antibody/humoral (B) |
| Hypogammaglobulinemia |
- X-linked agammaglobulinemia
- Transient hypogammaglobulinemia of infancy
|
|
| Dysgammaglobulinemia |
- IgA deficiency
- IgG deficiency
- IgM deficiency
- Hyper IgM syndrome (1
- 2
- 3
- 4
- 5)
- Wiskott-Aldrich syndrome
- Hyper-IgE syndrome
|
|
| Other |
- Common variable immunodeficiency
- ICF syndrome
|
|
|
| T cell deficiency (T) |
- thymic hypoplasia: hypoparathyroid (Di George's syndrome)
- euparathyroid (Nezelof syndrome
- Ataxia telangiectasia)
peripheral: Purine nucleoside phosphorylase deficiency
|
|
| Severe combined (B+T) |
- x-linked: X-SCID
autosomal: Adenosine deaminase deficiency
- Omenn syndrome
- ZAP70 deficiency
- Bare lymphocyte syndrome
|
|
|
| Acquired |
|
|
Leukopenia:
Lymphocytopenia |
- Idiopathic CD4+ lymphocytopenia
|
|
| Complement deficiency |
- C1-inhibitor (Angioedema/Hereditary angioedema)
- Complement 2 deficiency/Complement 4 deficiency
- MBL deficiency
- Properdin deficiency
- Complement 3 deficiency
- Terminal complement pathway deficiency
- Paroxysmal nocturnal hemoglobinuria
- Complement receptor deficiency
|
|
|
Index of the immune system
|
|
| Description |
- Physiology
- cells
- autoantigens
- autoantibodies
- complement
- surface antigens
- IG receptors
|
|
| Disease |
- Allergies
- Immunodeficiency
- Immunoproliferative immunoglobulin disorders
- Hypersensitivity and autoimmune disorders
- Neoplasms and cancer
|
|
| Treatment |
- Procedures
- Drugs
- antihistamines
- immunostimulants
- immunosuppressants
- monoclonal antibodies
|
|
|
|
Disorders of globin and globulin proteins
|
|
| Globin |
- Hemoglobinopathy
- Thalassemia
- alpha
- beta
- delta
- Sickle-cell disease
- HPFH
|
|
| Globulin |
|
|
| Serpin |
- Serpinopathy: Alpha 1-antitrypsin deficiency
- Antithrombin III deficiency
- Hereditary angioedema
- FENIB
|
|
- See also
- globular proteins
- globins
- antibodies
- serpins
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
|
|
|
Cell surface receptor deficiencies
|
|
G protein-coupled receptor
(including hormone) |
| Class A |
- TSHR (Congenital hypothyroidism 1)
- LHCGR (Luteinizing hormone insensitivity, Leydig cell hypoplasia, Male-limited precocious puberty)
- FSHR (Follicle-stimulating hormone insensitivity, XX gonadal dysgenesis)
- GnRHR (Gonadotropin-releasing hormone insensitivity)
- EDNRB (ABCD syndrome, Waardenburg syndrome 4a, Hirschsprung's disease 2)
- AVPR2 (Nephrogenic diabetes insipidus 1)
- PTGER2 (Aspirin-induced asthma)
|
|
| Class B |
- PTH1R (Jansen's metaphyseal chondrodysplasia)
|
|
| Class C |
- CASR (Familial hypocalciuric hypercalcemia)
|
|
| Class F |
- FZD4 (Familial exudative vitreoretinopathy 1)
|
|
|
Enzyme-linked receptor
(including
growth factor) |
| RTK |
- ROR2 (Robinow syndrome)
- FGFR1 (Pfeiffer syndrome, KAL2 Kallmann syndrome)
- FGFR2 (Apert syndrome, Antley–Bixler syndrome, Pfeiffer syndrome, Crouzon syndrome, Jackson–Weiss syndrome)
- FGFR3 (Achondroplasia, Hypochondroplasia, Thanatophoric dysplasia, Muenke syndrome)
- INSR (Donohue syndrome
- Rabson–Mendenhall syndrome)
- NTRK1 (Congenital insensitivity to pain with anhidrosis)
- KIT (KIT Piebaldism, Gastrointestinal stromal tumor)
|
|
| STPK |
- AMHR2 (Persistent Müllerian duct syndrome II)
- TGF beta receptors: Endoglin/Alk-1/SMAD4 (Hereditary hemorrhagic telangiectasia)
- TGFBR1/TGFBR2 (Loeys–Dietz syndrome)
|
|
| GC |
- GUCY2D (Leber's congenital amaurosis 1)
|
|
|
| JAK-STAT |
- Type I cytokine receptor: GH (Laron syndrome)
- CSF2RA (Surfactant metabolism dysfunction 4)
- MPL (Congenital amegakaryocytic thrombocytopenia)
|
|
| TNF receptor |
- TNFRSF1A (TNF receptor associated periodic syndrome)
- TNFRSF13B (Selective immunoglobulin A deficiency 2)
- TNFRSF5 (Hyper-IgM syndrome type 3)
- TNFRSF13C (CVID4)
- TNFRSF13B (CVID2)
- TNFRSF6 (Autoimmune lymphoproliferative syndrome 1A)
|
|
| Lipid receptor |
- LRP: LRP2 (Donnai–Barrow syndrome)
- LRP4 (Cenani–Lenz syndactylism)
- LRP5 (Worth syndrome, Familial exudative vitreoretinopathy 4, Osteopetrosis 1)
- LDLR (LDLR Familial hypercholesterolemia)
|
|
| Other/ungrouped |
- Immunoglobulin superfamily: AGM3, 6
- Integrin: LAD1
- Glanzmann's thrombasthenia
- Junctional epidermolysis bullosa with pyloric atresia
EDAR (EDAR hypohidrotic ectodermal dysplasia)
- PTCH1 (Nevoid basal-cell carcinoma syndrome)
- BMPR1A (BMPR1A juvenile polyposis syndrome)
- IL2RG (X-linked severe combined immunodeficiency)
|
|
- See also
- cell surface receptors
|
Index of cells
|
|
| Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
| Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
|
|
|
UpToDate Contents
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English Journal
- Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK.
- Bryan BA1, Battersby A1, Shillitoe BM1, Barge D2, Bourne H2, Flood T2, Cant AJ2, Stroud C2, Gennery AR3,4.
- Journal of clinical immunology.J Clin Immunol.2016 Jul;36(5):472-9. doi: 10.1007/s10875-016-0284-3. Epub 2016 Apr 18.
- INTRODUCTION: Patients with congenital agammaglobulinemia, characterized by a defect in B lymphocyte differentiation causing B alymphocytosis, require life-long IgG replacement. There is scant literature regarding the effectiveness of IgG treatment at preventing mucosal (particularly sinopulmonary t
- PMID 27091141
- Nucleotide variation in Sabin type 3 poliovirus from an Albanian infant with agammaglobulinemia and vaccine associated poliomyelitis.
- Foiadelli T1, Savasta S2, Battistone A3, Kota M4, Passera C2, Fiore S3, Bino S4, Amato C3, Lozza A5, Marseglia GL2, Fiore L3.
- BMC infectious diseases.BMC Infect Dis.2016 Jun 10;16(1):277. doi: 10.1186/s12879-016-1587-y.
- BACKGROUND: Vaccine-associated paralytic poliomyelitis (VAPP) and immunodeficient long-term polio excretors constitute a significant public health burden and are a major concern for the WHO global polio eradication endgame.CASE PRESENTATION: Poliovirus type 3 characterized as Sabin-like was isolated
- PMID 27287521
- Xq22.1 contiguous gene deletion syndrome of X-linked agammaglobulinemia and Mohr-Tranebjærg syndrome.
- Shaker M1, Lorigiano TH2, Vadlamudi A3.
- Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology.Ann Allergy Asthma Immunol.2016 Jun;116(6):578-9. doi: 10.1016/j.anai.2016.03.014. Epub 2016 Apr 2.
- PMID 27048950
Japanese Journal
- Genetic analysis of contiguous X-chromosome deletion syndrome encompassing the BTK and TIMM8A genes
- Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age
- Pediatrics international : official journal of the Japan Pediatric Society 53(4), 611-612, 2011-08-01
- NAID 10029559433
Related Links
- 19 Jun 2012 ... Agammaglobulinemia. Agammaglobulinemia, or hypogammaglobulinemia, is the most common of the primary immunodeficiencies, accounting for approximately 50% of cases.
Related Pictures
★リンクテーブル★
[★]
- 英
- immunoglobulin, Ig
- 同
- 抗体
- 商
- HBグロブリン、ヴェノグロブリン、ガンマーグロブリン、ガンマガード、ガンマグロブリン、グロブリン、グロベニン-I、サイモグロブリン、サングロポール、ゼットブリン、テタノセーラ、テタノブリン、テタノブリンIH、はぶ抗毒素、ヒスタグロビン、ベニロン-I、ヘパトセーラ、ヘブスブリン、ヘブスブリンIH、ポリグロビン、まむし抗毒素、抗Dグロブリン、抗D人免疫グロブリン、抗HBs人免疫グロブリン、破傷風グロブリン
- 関
- 免疫、T細胞受容体、リンパ球抗原受容体
- IgM、IgD、IgG、IgA、IgE
構造
- H鎖とL鎖からなり、Igドメインをそれぞれ4つ(IgMとIgEは5つ)、2つもつ。
胎児の免疫グロブリン
- 胎児は母胎より免疫グロブリンをもらうが、生後六ヶ月で消失する (標準予防策実践マニュアル 南江堂 第2刷 p.12)
- 自分で抗体を作る能力は3-6歳で完成する (標準予防策実践マニュアル 南江堂 第2刷 p.12)
免疫グロブリンの特性 (IMM.161)
| 抗体
|
IgG1
|
IgG2
|
IgG3
|
IgG4
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IgM
|
IgA1
|
IgA2
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IgD
|
IgE
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| 重鎖
|
γ1
|
γ2
|
γ3
|
γ4
|
μ
|
α1
|
α2
|
δ
|
ε
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| 分子量
|
146
|
146
|
165
|
146
|
970
|
160
|
160
|
184
|
188
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| 補体活性化(古典的経路)
|
++
|
+
|
+++
|
-
|
++++
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-
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-
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-
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-
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| 補体活性化(代替経路)
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-
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-
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-
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-
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-
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+
|
-
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-
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-
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| 胎盤通過
|
+++
|
+
|
++
|
±
|
-
|
-
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-
|
-
|
-
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| 食細胞FcRへの結合
|
+
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-
|
+
|
±
|
-
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+
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+
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-
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+
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| 肥満細胞・好塩基球への結合
|
-
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-
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-
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-
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-
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-
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-
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-
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+++
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| staphylococcal Protein Aとの反応性
|
+
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+
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±
|
+
|
-
|
-
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-
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-
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-
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免疫グロブリンの遺伝子再構成 (IMM.144)
多様性の獲得機構
- 多数のV遺伝子
- VJとJDV遺伝子の組み換え
- 組み換え時の不正確性(塩基欠損、付加、N塩基)(CDR3)
- 体細胞突然変異(CDR1,CDR2)
- H鎖とL鎖の組み合わせ
シグナル伝達
基準値
- 小児基準値研究班(編)：日本人小児の臨床検査基準値。日本公衆衛生協会、1997
- SPE.704
|
|
IgG
|
IgA
|
IgM
|
| ♂
|
♀
|
♂
|
♀
|
♂
|
♀
|
| 1ヶ月
|
400 ～ 1030
|
ー ～ 24
|
21 ～ 96
|
| 6ヶ月
|
290 ～ 950
|
8 ～ 50
|
46 ～ 176
|
| 1歳
|
460 ～ 1220
|
470 ～ 1210
|
16 ～ 128
|
14 ～ 98
|
57 ～ 260
|
81 ～ 314
|
| 3歳
|
530 ～ 1340
|
540 ～ 1340
|
25 ～ 174
|
22 ～ 150
|
63 ～ 279
|
86 ～ 332
|
| 6歳
|
630 ～ 1490
|
650 ～ 1530
|
45 ～ 258
|
38 ～ 238
|
72 ～ 305
|
92 ～ 353
|
| 12歳
|
750 ～ 1660
|
790 ～ 1740
|
71 ～ 352
|
63 ～ 373
|
72 ～ 306
|
100 ～ 380
|
| 成人
|
680 ～ 1620
|
84 ～ 438
|
380 ～ 1620
|
臨床関連
免疫グロブリンの量的変化による疾患
[★]
- 英
- agammaglobulinemia
- 同
- 無γグロブリン血症、低γグロブリン血症？？？？？？？
- 関
- 免疫不全症候群、抗体欠乏症、グッド症候群
[show details]
[★]
- 英
- hypogammaglobulinemia、hypogammaglobulinaemia
- 関
- 低ガンマグロブリン症、低ガンマグロブリン血症
- 無γグロブリン血症 agammaglobulinemia
[★]
X連鎖無ガンマグロブリン血症、ブルトン型無ガンマグロブリン血症
[★]
X連鎖無ガンマグロブリン血症, ブルトン型無ガンマグロブリン血症
[★]
X連鎖無ガンマグロブリン血症、XLA
[★]
Bruton型無γ-グロブリン血症