低ガンマグロブリン血症
WordNet
- an abnormally low concentration of gamma globulin in the blood and increased risk of infection
Wikipedia preview
出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/08 08:46:40」(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 (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
- Application of diagnostic and treatment criteria for common variable immunodeficiency disorder.
- Ameratunga R1,2, Storey P2, Barker R1, Jordan A2, Koopmans W1, Woon ST1.
- Expert review of clinical immunology.Expert Rev Clin Immunol.2016 Mar;12(3):257-66. doi: 10.1586/1744666X.2016.1126509. Epub 2016 Feb 15.
- Common variable immunodeficiency disorder (CVID) is the most frequent symptomatic primary immune deficiency disorder in adults. It probably comprises a spectrum of polygenic disorders, with hypogammaglobulinemia being the overarching feature. While the majority of patients with CVID can be identifie
- PMID 26623716
- Acral lympho-histiocytic dermatitis in X-linked agammaglobulinemia: a case report showing clonal CD8(+) T cells with indolent clinical behaviour.
- Gualdi G1, Lorenzi L2, Arisi M1, Maffeis M3, Soresina A3, Marocolo D2, Plebani A3, Calzavara-Pinton PG1, Facchetti F2.
- Journal of the European Academy of Dermatology and Venereology : JEADV.J Eur Acad Dermatol Venereol.2016 Mar;30(3):461-3. doi: 10.1111/jdv.12839. Epub 2014 Nov 11.
- PMID 25388899
- CMV Immunoglobulins for the Treatment of CMV Infections in Thoracic Transplant Recipients.
- Schulz U1, Solidoro P, Müller V, Szabo A, Gottlieb J, Wilkens H, Enseleit F.
- Transplantation.Transplantation.2016 Mar;100 Suppl 3:S5-S10. doi: 10.1097/TP.0000000000001097.
- Intravenous ganciclovir and, increasingly, oral valganciclovir are now considered the mainstay of treatment for cytomegalovirus (CMV) infection or CMV disease. Under certain circumstances, CMV immunoglobulin (CMVIG) may be an appropriate addition or, indeed, alternative. Data on monotherapy with CMV
- PMID 26900992
Japanese Journal
- 妊娠高血圧症候群,特発性血小板減少性紫斑病合併妊娠にて分娩後,早発卵巣不全に陥り,その後免疫不全症を発症した1例
- 笹 秀典,古谷 健一,高橋 明美,菊地 まゆみ
- 母性衛生 54(2), 394-399, 2013-07-00
- 【緒言】早発卵巣不全(premature ovarian failure : POF)は,その原因は不明であり,その後の経過も改善しない場合が多い。長い経過を経て, POFのフォローが内科的難病の診断に役立ったと思われる症例を経験した。【症例】症例は, 31歳,妊娠28週時,妊娠高血圧症候群(PIH),特発性血小板減少性紫斑病(ITP)の診断で緊急搬送となるも,翌日胎児死亡となった。約1年半後自然 …
- NAID 110009624964
- Ectopic Cervical Thymoma Accompanied by Goods Syndrome
- Nagoya Akihiro,Kanzaki Ryu,Nakagiri Tomoyuki,Inoue Masayoshi,Susaki Yoshiyuki,Inoue Shinya,Okumura Meinoshin
- Annals of Thoracic and Cardiovascular Surgery, 2013
- … The atypical clinical course, including hypogammaglobulinemia, led us to the correct diagnosis; …
- NAID 130003377806
- A case of surgically treated Good syndrome
- 渡邊 譲,岡部 直行,長谷川 剛生,大杉 純,鈴木 弘行
- 日本呼吸器外科学会雑誌 27(1), 106-112, 2013
- … Based on the presence of hypogammaglobulinemia, Good syndrome was diagnosed. …
- NAID 130003368730
Related Links
- Hypogammaglobulinemia. Hypogammaglobulinemia refers to a set of clinicolaboratory entities with varied causes and manifestations. ... Hypogammaglobulinemia refers to a set of clinicolaboratory entities with varied ...
- I was just diagnosed with Hypogammaglobulinemia and scheduled to start weekly Vivaglobin infusions this month. I am wondering what type of infusion you are taking? I also have a rare disease called Sweets Syndrome which you ...
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
|
IgM
|
IgA1
|
IgA2
|
IgD
|
IgE
|
| 重鎖
|
γ1
|
γ2
|
γ3
|
γ4
|
μ
|
α1
|
α2
|
δ
|
ε
|
| 分子量
|
146
|
146
|
165
|
146
|
970
|
160
|
160
|
184
|
188
|
| 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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| 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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+
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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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| 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
- 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
[★]
- 英
- hypogammaglobulinemia、hypogammaglobulinemic
- 関
- 無ガンマグロブリン血症、低ガンマグロブリン血症、低γグロブリン血症
[★]
- 関
- hypogammaglobulinaemia、hypogammaglobulinemia
[★]
低ガンマグロブリン血症、低γグロブリン血症
- 関
- hypogammaglobulinemia、hypogammaglobulinemic