Infectious Disease Book

//fpnotebook.com/

Humoral Immunodeficiency

Aka: Humoral Immunodeficiency, Humoral Immunity Disorder, Humoral Immune Defect, Humoral Disorder, B-Cell Disorder, Immunoglobulin Disorder, Immunoglobulin Deficiency, Antibody Disorder, Agammaglobulinemia, Hypogammaglobulinemia, X-Linked Agammaglobulinemia, XLA, Bruton's Agammaglobulinemia, Common Variable Immunodeficiency, CVID, Transient Hypogammaglobulinemia of Infancy, Hyper Immunoglobulin E, Hyper-IgE Syndrome, Job Syndrome, Hyper Immunoglobulin M, HIGM, Hyper-IgM Syndrome
  1. See Also
    1. Primary Immunodeficiency
    2. Immune System
    3. Humoral Immunity (Immunoglobulin)
    4. T-Lymphocyte
    5. B-Lymphocyte
    6. Antigen Processing
    7. Complement Pathway
  2. Epidemiology
    1. Antibody or humoral or B-Cell Disorders account for Immunodeficiency in 78% of U.S. cases and 55% in Europe
  3. Physiology
    1. See Humoral Immunity (Immunoglobulin)
  4. Pathophysiology
    1. Humoral Immunodeficiency presents after 3 months of age (when maternal antibodies are no longer present)
    2. B Cell deficiency or maturation defect results in Antibody deficiency
    3. Results in recurrent respiratory (ears, sinus, lungs) infections with encapsulated organisms
      1. Streptococcus Pneumoniae
      2. HaemophilusInfluenzae
  5. Causes: No B-Cells: Agammaglobulinemia
    1. X-Linked Agammaglobulinemia or XLA (84% of Agammaglobulinemia cases in Europe)
      1. Bruton Tyrosine Kinase defect (Btk gene) results in defective B-Cell maturation
      2. Absent peripheral B-Cells results in very low serum IgG, IgA and IgM
      3. Infants may have no Tonsils or Lymph Nodes on exam
      4. Severe respiratory infections with encapsulated Bacteria (e.g. pneumococcus, H. Influenzae)
      5. Chronic Diarrhea (echoviruses and coxsackie virus), recurrent varicella
  6. Causes: Decreased B Cells or Antibody (Hypogammaglobulinemia)
    1. IgG Subclass Deficiency of IgG2, IgG3, IgG4 (26% of U.S. cases)
    2. IgA Deficiency (30% of U.S. cases and most common B-Cell Disorder overall in U.S.)
      1. Low levels or absent IgA
      2. Prone to respiratory or gastrointestinal infections
      3. May be associated with IgG2 or IgG4 deficiency
    3. Common Variable Immunodeficiency or CVID (15% in U.S. and 46% in Europe of cases)
      1. Bimodal onset in preschool and in young adults
      2. Two Immunoglobulin subtypes are low (typically including Low total IgG, as well as IgM and IgA)
      3. B-Cells may be decreased in number and have defective function (T Cells may also be defective)
      4. Similar to X-Linked Agammaglobulinemia, but more mild
      5. Ear, sinus and lung infections occur as with other Antibody Disorders (e.g. pneumococcus, H. Influenzae)
      6. CVID also present with malabsorption from Infectious Diarrhea
        1. Examples: C. difficile, Giardia, Salmonella, Campylobacter, Yersinia
    4. Transient Hypogammaglobulinemia of Infancy (3% of U.S. cases)
      1. Increased mild Bacterial respiratory infections
      2. Normal nadir that corrects by age 2-4 years
  7. Causes: Increased Immunoglobulin (Hypergammaglobulinemia)
    1. Hyper-Immunoglobulin E (IgE) Syndrome (Job Syndrome)
      1. Significantly increased IgE levels
      2. Skin disorders (e.g. Eczema) and infections
      3. Recurrent lung infections (staphylococcal empyema)
    2. Hyper-Immunoglobulin M or Hyper-IgM Syndrome (HIGM)
      1. CD40 Ligand deficiency (most common cause, X-Linked)
      2. T-Lymphocytes are unable to trigger B-Cells to switch Immunoglobulin production of IgM to IgG, IgA and IgE
      3. IgM levels increase, but other Antibody levels are deficient
      4. Results in recurrent and severe infections (including opportunistic infections)
      5. Results in increased malignancy risk
  8. Resources
    1. National Primary Immunodeficiency Resource Center
      1. http://npi.jmfworld.org
    2. Immune Deficiency Foundation
      1. http://www.primaryimmune.org
  9. References
    1. Mahmoudi (2014) Immunology Made Ridiculously Simple, MedMaster, Miami, FL
    2. Cooper (2003) Am Fam Physician 68:2001-11 [PubMed]
    3. Reust (2013) Am Fam Physician 87(11): 773-8 [PubMed]
    4. Rosen (1995) N Engl J Med 333(7):431-440 [PubMed]

Agammaglobulinemia (C0001768)

Definition (SCTSPA) Ausencia de la fracción gamma de las globulinas séricas
Definition (MSHCZE) nepřítomnost gamaglobulinů (protilátek) v krvi (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (SNOMEDCT_US) Absence of the gamma fraction of serum globulin
Definition (MSH) An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood.
Concepts Disease or Syndrome (T047)
MSH D000361
SnomedCT 81282009, 267512002, 190977001, 119249001
English Agammaglobulinemia, Agammaglobulinemias, agammaglobulinemia (diagnosis), agammaglobulinemia, Agammaglobulinaemia -RETIRED-, Agammaglobulinemia [Disease/Finding], agammaglobulinaemia, Agammaglobulinemia (disorder), Agammaglobulinaemia, Agammaglobulinemia (finding), Agammaglobulinemia, NOS, Agammaglobulinemia -RETIRED-, Agammaglobulinemia NOS
Dutch agammaglobulinemie, Agammaglobulinemie, Globulinemie, agamma-
German Agammaglobulinaemie, Agammaglobulinämie
Swedish Gammaglobulinbrist
Japanese ムガンマグロブリンケッショウ, ムガンマグロブリンケツショウ, 低ガンマグロブリン血, 無γグロブリン血症, 低γ-グロブリン血, 無γグロブリン血, 低γ-グロブリン血症, 低γグロブリン血, 無γ-グロブリン血症, 低ガンマグロブリン血症, 無ガンマグロブリン血, 低γグロブリン血症, 無γ-グロブリン血, ガンマグロブリン欠乏血症, 無ガンマグロブリン血症
Czech agamaglobulinémie, Agamaglobulinemie
Finnish Agammaglobulinemia
Russian AGAMMAGLOBULINEMIIA, GIPOGAMMAGLOBULINEMIIA, АГАММАГЛОБУЛИНЕМИЯ, ГИПОГАММАГЛОБУЛИНЕМИЯ
Polish Agammaglobulinemia, Hipogammaglobulinemia
Hungarian Agammaglobulinaemia, Agammaglobulinemia
Norwegian Agammaglobulinemi
Spanish agammaglobulinemia - RETIRADO -, agammaglobulinemia - RETIRADO - (concepto no activo), agammaglobulinemia (hallazgo), agammaglobulinemia, Agammaglobulinemia
French Agammaglobulinémie
Italian Agammaglobulinemia
Portuguese Agamaglobulinemia
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Common Variable Immunodeficiency (C0009447)

Definition (NCI) A primary immunodeficiency characterized by low levels or absence of all the immunoglobulin classes and lack of B-lymphocytes or plasma cells. It results in recurrent bacterial infections. Complications include autoimmune phenomena and cancer development.
Definition (MSH) Heterogeneous group of immunodeficiency syndromes characterized by hypogammaglobulinemia of most isotypes, variable B-cell defects, and the presence of recurrent bacterial infections.
Concepts Disease or Syndrome (T047)
MSH D017074
ICD9 279.06
ICD10 D83, D83.9
SnomedCT 191010004, 23238000
English Immunodeficiency, Common Variable, Common Variable Immunodeficiencies, Immunodeficiencies, Common Variable, Acquired hypogammaglobulinaem, Acquired hypogammaglobulinaemia, Acquired hypogammaglobulinemia, CVI-Common variabl imunodefncy, CVID - Comm variab immunodefic, Comm var hypogammaglobulinaem, Common variable immunodefic, Common variable immunodeficiency, unspecified, COMMON VARIABLE IMMUNODEFIC, IMMUNODEFIC COMMON VARIABLE, common variable hypogammaglobulinemia (diagnosis), common variable hypogammaglobulinemia, Late onset immunoglob defic, Immunodeficiency common variable, Common variabl immunodef, Common Variable Immunodeficiency [Disease/Finding], Common Variable Hypogammaglobulinemias, Variable Hypogammaglobulinemias, Common, Hypogammaglobulinemia, Common Variable, Hypogammaglobulinemias, Common Variable, Variable Hypogammaglobulinemia, Common, Common Variable Hypogammaglobulinemia, Common Variable Immunodeficiency, common immunodeficiency variable, common variable immunodeficiency, cvid, CVID, IMMUNODEFICIENCY, COMMON VARIABLE, Common Variable Immune Deficiency, Common variable immunodeficiency (disorder), Secondary Hypogammaglobulinemia, Common variable immunodeficiency, CVAG, Common variable agammaglobulinemia, CVI - Common variable immunodeficiency, CVID - Common variable immunodeficiency, Common variable hypogammaglobulinaemia, Common variable hypogammaglobulinemia, Late onset immunoglobulin deficiency, Common variable agammaglobulinaemia, Common variable agammaglobulinemia (disorder), common variable; agammaglobulinemia, common variable; immunodeficiency, immunodeficiency; common variable, acquired; agammaglobulinemia, agammaglobulinemia; acquired, agammaglobulinemia; common variable, Primary acquired hypogammaglobulinaemia, Primary acquired hypogammaglobulinemia, Acquired Agammaglobulinemia, Acquired dysgammaglobulinemia, Acquired primary hypogammaglobulinemia, Congenital dysgammaglobulinemia, Congenital non-sex-linked hypogammaglobulinemia, Primary dysgammaglobulinemia, Sporadic hypogammaglobulinemia
Italian Immunodeficienza comune variabile, Ipogammaglobulinemia primitiva acquisita, Immunodeficit comune variabile
Dutch primair verworven hypogammaglobulinemie, normale variabele immunodeficiëntie, agammaglobulinemie; common variable, agammaglobulinemie; verworven, common variable; agammaglobulinemie, common variable; immunodeficiëntie, immunodeficiëntie; common variable, verworven; agammaglobulinemie, 'Common variable'-immunodeficiëntie, niet gespecificeerd, immunodeficiëntie algemeen variabel, 'Common variable'-immunodeficiëntie, Deficiëntie, 'common variable'-immuno-, Immunodeficiëntie; common variable
French Hypogammaglobulinémie acquise primitive, Hypogammaglobulinémie primitive acquise, DICV, Immunodéficience commune variable, Hypogammaglobulinémie commune variable, Déficit immunitaire commun variable
German primaere erworbene Hypogammaglobulinaemie, allgemeiner variabler Immundefekt, Variabler Immundefekt [common variable immunodeficiency], Variabler Immundefekt, nicht naeher bezeichnet, Immunmangel allgemein variabel, Immundefekt, kombinierter variabler, Variables Immundefektsyndrom
Portuguese Hipogamaglobulinemia adquirida primária, Imunodeficiência comum variável, Imunodeficiência de Variável Comum
Spanish Hipogammaglobulinemia adquirida primaria, agammaglobulinemia variable común (trastorno), agammaglobulinemia variable común, inmunodeficiencia variable común, Inmunodeficiencia variable común, Inmunodeficiencia Común Variable, Inmunodeficiencia Variable Común
Swedish Vanlig variabel immunbrist
Japanese ブンルイフノウガタメンエキフゼンショウ, ゲンパツセイコウテンセイテイガンマグロブリンケツショウ, ゲンパツセイコウテンセイテイガンマグロブリンケッショウ, 原発性後天性低γグロブリン血症, 分類不能型免疫不全症, 分類不能型免疫不全, 免疫不全症-分類不能型
Czech imunodeficience běžná variabilní, Primárně získaná hypogamaglobulinemie, Běžná variabilní imunodeficience, Primární získaná hypogamaglobulinemie
Finnish Tavallinen vaihteleva immuunivajavuus
Russian IMMUNODEFITSIT OBSHCHII VARIABEL'NYI, OBSHCHAIA VAR'IRUIUSHCHAIA IMMUNONEDOSTATOCHNOST', ИММУНОДЕФИЦИТ ОБЩИЙ ВАРИАБЕЛЬНЫЙ, ОБЩАЯ ВАРЬИРУЮЩАЯ ИММУНОНЕДОСТАТОЧНОСТЬ
Korean 공통 가변성 면역결핍증, 상세불명의 공통 가변성 면역결핍증
Polish Niedobór odporności pospolity zmienny
Hungarian Variábilis immundeficiencia, Primaer szerzett hypogammaglobulinaemia, Variábilis immunhiány, Primer szerzett hypogammaglobulinemia
Norwegian Vanlig variabel immunsvikt, Vanlig variabel hypogammaglobulinemi, Immunsvikt, vanlig variabel, Vanlig variabel immundefekt
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Hypogammaglobulinemia (C0086438)

Definition (SCTSPA) Concentración sérica disminuida de la fracción gamma de las globulinas séricas
Definition (SNOMEDCT_US) Decreased concentration of the gamma fraction of serum globulin
Definition (NCI) A decreased level of serum immunoglobulins. It may be inherited or acquired. It is caused by decreased or inefficient production of immunoglobulins from B cells or by a decrease in the numbers of B cells themselves. Low levels of immunoglobulins will affect the immune system's ability to combat bacterial infection. Supplementation of immunoglobulins is needed to prevent worsening outcomes.
Definition (NCI_NCI-GLOSS) A condition in which the level of immunoglobulins (antibodies) in the blood is low and the risk of infection is high.
Definition (CSP) condition characterized by abnormally low levels of all classes of gamma globulins in the blood.
Concepts Disease or Syndrome (T047)
MSH D000361
ICD9 279.00
ICD10 D80.1
SnomedCT 119250001, 190978006, 81282009
English Hypogammaglobulinemias, HYPOGAMMAGLOBULINEMIA, Hypogammaglobulinemia NOS, HYPOGAMMAGLOBULINAEMIA, hypogammaglobulinemia (diagnosis), hypogammaglobulinemia, Hypogammaglobulinem NOS, Hypogammaglobulinemia NOS (finding), Hypogammaglobulinaemia, Hypogammaglobulinemia (finding), Hypogammaglobulinemia, NOS, Hypogammaglobulinaemia NOS, Hypogammaglobulinemia, unspecified, Hypogammaglobulinaemia, unspecified, Hypogammaglobulinemia, hypogammaglobulinaemia
Portuguese HIPOGAMAGLOBULINEMIA, Hipogamaglobulinemia, não especificada, Hipogamaglobulinemia NE, Hipogamaglobulinemia
Dutch hypogammaglobulinemie, niet-gespecificeerd, hypogammaglobulinemie NAO, hypogammaglobulinemie, Hypogammaglobulinemie
French Hypogammaglobulinémie non précisée, Hypogammaglobulinémie SAI, Hypogammaglobulinémie, non précisée, Hypogammaglobulinémie
German Hypogammaglobulinaemie, unspezifisch, Hypogammaglobulinaemie NNB, Hypogammaglobulinämie, HYPOGAMMAGLOBILINAEMIE, Hypogammaglobulinaemie
Italian Ipogammaglobulinemia non specificata, Ipogammaglobulinemia, non specificata, Ipogammaglobulinemia NAS, Ipogammaglobulinemia
Spanish Hipogammaglobulinemia no especificada, Hipogamaglobulinemia, Hipogammaglobulinemia, no especificada, Hipogammaglobulinemia NEOM, Hipogammaglobulinemia, hipogammaglobulinemia, SAI, hipogammaglobulinemia, SAI (hallazgo), hipogammaglobulinemia (hallazgo), hipogammaglobulinemia
Japanese 低γグロブリン血症, 低γグロブリン血症、詳細不明, 低γグロブリン血症NOS, テイガンマグロブリンケツショウショウサイフメイ, テイガンマグロブリンケツショウNOS, テイガンマグロブリンケッショウNOS, テイガンマグロブリンケッショウ, テイガンマグロブリンケツショウ, テイガンマグロブリンケッショウショウサイフメイ
Czech hypogamaglobulinémie, Hypogamaglobulinemie, blíže neurčená, Hypogamaglobulinemie, Hypogamaglobulinemie NOS
Hungarian Nem meghatározott hypogammaglobulinemia, Hypogammaglobulinaemia, Hypogammaglobulinemia, Hypogammaglobulinaemia k.m.n., Nem meghatározott hypogammaglobulinaemia
Norwegian Hypogammaglobulinemi
Sources
Derived from the NIH UMLS (Unified Medical Language System)


X-linked agammaglobulinemia (C0221026)

Definition (NCI) X-linked agammaglobulinemia. An immunodeficiency state characterized (usually) by profoundly low concentrations of serum immunoglobulins of all classes, although occasionally significant amounts of one or more isotypes can be found. The fundamental defect in XLA affects early lineage B cells.
Concepts Disease or Syndrome (T047)
MSH C537409
SnomedCT 190983003, 116133005, 65880007
English Bruton's hypogammaglobulinaem, XLA - X-linked agammaglobaemia, X-linked agammaglobulinemia, agammaglobulinemia (X-linked), Bruton's type agammaglobulinemia (diagnosis), XLA, AGMX1, AGAMMAGLOBULINEMIA, X-LINKED, BRUTON-TYPE AGAMMAGLOBULINEMIA, IMMUNODEFICIENCY 1, IMD1, Bruton-type (congenital X-linked) agammaglobulinemia, Bruton type agammaglobulinemia, Agammaglobulinemia, BTK, Agammaglobulinemia, Bruton tyrosine kinase, x-linked agammaglobulinemia, bruton's agammaglobulinemia, congenital agammaglobulinemia, agammaglobulinemia x-linked, bruton disease, sex-linked agammaglobulinemia, AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1, Bruton-Type Agammaglobulinemia, Immunodeficiency 1, Agammaglobulinemia, X-Linked, Agammaglobulinemia, X-Linked, Type I, agammaglobulinemia X-linked, agammaglobulinemia X-linked (diagnosis), Bruton's Agammaglobulinemia, Congenital Agammaglobulinemia, Congenital agammaglobulinemia, Bruton's type agammaglobulinemia, Bruton's agammaglobulinaemia, Bruton's agammaglobulinemia, Bruton's hypogammaglobulinaemia, Bruton's hypogammaglobulinemia, X-linked agammaglobulinaemia, XLA - X-linked agammaglobulinaemia, XLA - X-linked agammaglobulinemia, Bruton's type agammaglobulinaemia, Congenital agammaglobulinaemia, Congenital agammaglobulinemia (disorder), X-linked agammaglobulinemia (disorder), X-linked; agammaglobulinemia, Bruton; X-linked agammaglobulinemia, Bruton; agammaglobulinemia, agammaglobulinemia; Bruton, agammaglobulinemia; X-linked, X-Linked Agammaglobulinemia, Bruton's Sex-Linked Agammaglobulinemia, Bruton's X-Linked Agammaglobulinemia
Italian Agammaglobulinemia di Bruton, Agammaglobulinemia congenita
Portuguese Agamaglobulinemia de Bruton, Agamaglobulinemia congénita, Bruton Syndrom
Japanese ブルトン型無γグロブリン血症, ブルトンガタムガンマグロブリンケッショウ, ブルトンガタムガンマグロブリンケツショウ, センテンセイムガンマグロブリンケッショウ, センテンセイムガンマグロブリンケツショウ, 先天性無γグロブリン血症
Czech Brutonova agamaglobulinemie, Kongenitální agamaglobulinémie, Vrozená agamaglobulinémie
Spanish Agammaglobulinemia congénita, agammaglobulinemia congénita (trastorno), agammaglobulinemia congénita, agammaglobulinemia de Bruton, agammaglobulinemia ligada al cromosoma X (trastorno), agammaglobulinemia ligada al cromosoma X, Agammaglobulinemia de Bruton
German Kongenitale Agammaglobulinaemie, Bruton Syndrom
French Agammaglobulinémie congénitale, Agammaglobulinémie de Bruton
Dutch congenitale agammaglobulinemie, Bruton; X-gebonden agammaglobulinemie, Bruton; agammaglobulinemie, X-gebonden; agammaglobulinemie, agammaglobulinemie; Bruton, agammaglobulinemie; X-gebonden, Bruton-agammaglobulinemie
Hungarian Congenitalis agammaglobulinemia, Bruton-agammaglobulinaemia
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Hyperimmunoglobulin M syndrome (C0272236)

Definition (NCI) Immunodeficiency caused by mutations in the gene encoding the CD40 ligand. It is characterized by decreased levels of IgG, IgA, and IgE, and normal or increased levels of IgM. Patients are at an increased risk of infections and development of malignancies.
Definition (NCI) An immunodeficiency state characterized by very low serum IgG and IgA but either a normal or, more frequently, a markedly elevated concentration of polyclonal IgM.
Definition (MSH) A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
Concepts Disease or Syndrome (T047)
MSH D053306
SnomedCT 82286005
English Hyper IgM Immunodeficiency Syndrome, Hyper IgM Syndrome, Hyper-IgM Immunodeficiency Syndromes, Hyper-IgM Immunodeficiency Syndrome, Hyper-IgM Syndromes, Hyper-IgM Syndrome, Immunodeficiency Syndrome, Hyper-IgM, Immunodeficiency Syndromes, Hyper-IgM, Immunodeficiency with Hyper IgM Syndrome, Immunodeficiency with Hyper-IgM Syndrome, Hyperimmunoglobulin M syndrome, Immunodeficiency + hyper-IgM, Immunodeficiency With Hyper-IgM, Hyper-IgM Immunodeficiency Syndrome [Disease/Finding], hyper igm syndrome, hyperimmunoglobulin m syndrome, Syndromes, Hyper-IgM Immunodeficiency, Syndrome, Hyper-IgM Immunodeficiency, Hyperimmunoglobulin M syndrome (diagnosis), Hyper IgM syndrome, Immunodeficiency with IgM hypergammaglobulinaemia, Immunodeficiency with IgM hypergammaglobulinemia, Hyperimmunoglobulin M syndrome (disorder), Hyperimmunoglobulin M Syndrome
Dutch hyper-IgM-syndroom
Portuguese Síndrome de Hiper IgM, Síndrome de Imunodeficiência com Hiper-IgM, Síndrome de Hiper-IgM e Imunodeficiência, Síndrome de Hiper-IgM, Síndrome da Imunodeficiência com Hiper-IgM
Spanish Síndrome hiper-IgM, Síndrome de Inmunodeficiencia con Hiper-IgM, Síndrome de Hiper-IgM e Inmunodeficiencia, Síndrome de Hiper-IgM, Síndrome de la Inmunodeficiencia con Hiper-IgM, síndrome de hiperinmunoglobulina M (trastorno), síndrome de hiperinmunoglobulina M
Russian ИММУНОДЕФИЦИТА СИНДРОМ ГИПЕР-IGM, ТИП 2, ИММУНОДЕФИЦИТОВ ГИПЕР-IGM СИНДРОМ, ГИПЕР-IGM ИММУНОДЕФИЦИТА СИНДРОМ, СИНДРОМ ГИПЕРПРОДУКЦИИ IGM, ИММУНОДЕФИЦИТА СИНДРОМ ГИПЕР-IGM, ТИП 3, ИММУНОДЕФИЦИТА СИНДРОМ ГИПЕР-IGM, ТИП 5, IMMUNODEFITSITA SINDROM GIPER-IGM, TIP 3, IMMUNODEFITSITA SINDROM GIPER-IGM, TIP 5, SINDROM GIPERPRODUKTSII IGM, IMMUNODEFITSITA SINDROM GIPER-IGM, TIP 2, IMMUNODEFITSITOV GIPER-IGM SINDROM, GIPER-IGM IMMUNODEFITSITA SINDROM
Italian Sindrome da iper IgM, SIGM, Immunodeficienza con iper-IgM
German Hyper-IgM-Immundefektsyndrom, Immundefekt mit Hyper-IgM-Syndrom, Hyper-IgM-Syndrom
French Syndrome hyper IgM, Syndrome hyper-IgM, Syndrome d'hyper-IgM, Syndrome d'hyper IgM, Hyperimmunoglobulinémie M, HIGM
Japanese 高IgM症候群, コウIgMショウコウグン, 高IgM症候群, 高IgM免疫不全症候群
Finnish Hyper-IgM-immuunivajausoireyhtymä
Czech hyper IgM syndrom, syndrom imunodeficience s hyper-IgM, hyper-IgM syndrom, Syndrom Hyper IgM
Swedish Hyper-IgM syndrom
Polish Zespół niedoborów immunologicznych z przewagą IgM, Zespół z przewagą IgM
Hungarian Hyper IGM syndroma
Norwegian Hyper-IgM-syndrom, Immunsvikt med økt immunglobulin M
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Transient hypogammaglobulinemia of infancy (C0272238)

Definition (NCI) A rare, primary humoral immunodeficiency of childhood characterized by decreasing serum levels of immunoglobulin G (IgG) as maternal antibodies clear the circulation while serum levels of immunoglobulin A and immunoglobulin M remain normal or are slightly decreased. Diagnosis may be suspected after the age of six months when a child's own synthesis of IgG should accelerate but it must be confirmed retrospectively after normalization of all serum immunoglobulin levels is seen by ages 2-6. This disorder may be caused by inadequate activation of progenitor B cells, defective class-switching or may even represent a maturational variant. Typically, a normal response to protein antigens is found while there is a notably diminished response to viral and bacterial polysaccharide antigens. Clinical presentation may include recurrent infections especially those of the respiratory tract. Despite increased susceptibility to infection in childhood, this disorder is self-limited with minimal implications for a normal life span.
Concepts Disease or Syndrome (T047)
ICD10 D80.7
SnomedCT 88714009
English Immunoglob maturational delay, THI - Trans hypogamglob-infant, Trans hypogammaglob of infancy, transient hypogammaglobulinemia of infancy, hypogammaglobulinemia transient of infancy, transient hypogammaglobulinemia of infancy (diagnosis), Transient hypogammaglobulinemia of young, THI, Transient hypogammaglobulinemia of infancy, Immunoglobulin maturational delay, THI - Transient hypogammaglobulinaemia of infancy, THI - Transient hypogammaglobulinemia of infancy, Transient hypogammaglobulinaemia of infancy, Transient hypogammaglobulinemia of infancy (disorder), Transient Hypogammaglobulinemia of Infancy
Italian Ipogammaglobulinemia transitoria dell'infanzia
Dutch voorbijgaande hypogammaglobulinemie op zuigelingenleeftijd, Voorbijgaande hypogammaglobulinemie van zuigeling, voorbijgaande hypogammaglobulinemie bij kinderen
French Hypogammaglobulinémie transitoire du nouveau-né, Hypogammaglobulinémie transitoire du nourrisson
Spanish Hipogamaglobulinemia pasajera de la infancia, hipogammaglobulinemia transitoria de la infancia (trastorno), hipogammaglobulinemia transitoria de la infancia, Hipogammaglobulinemia transitoria del lactante
Japanese 小児一過性低γグロブリン血症, ショウニイッカセイテイガンマグロブリンケッショウ, ショウニイッカセイテイガンマグロブリンケツショウ
German Transitorische Hypogammaglobulinaemie im Kindesalter, voruebergehende Hypogammaglobulinaemie des Kindesalters
Czech Přechodná hypogamaglobulinemie dětského věku
Korean 유아의 일과성 저감마글로불린혈증
Hungarian Csecsemőkori átmeneti hypogammaglobulinaemia, Átmeneti csecsemőkori hypogammaglobulinaemia
Portuguese Hipogamaglobulinemia transitória da 1ª infância
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Humoral immune defect (C0522274)

Definition (NCI) A broad classification of disorders where circulating numbers of B lymphocytes are decreased or ineffective. Complement components and the production of antibodies may also be deficient.
Concepts Disease or Syndrome (T047)
ICD9 279.09, 279.0
SnomedCT 190988007, 190977001, 267459007, 103075007
English Deficiency of humoral immunity, Deficiency of humoral immunity NOS, Humoral immunity defic. NOS, Humoral immunity def NEC, Deficiency of humoral immunity NOS (finding), Deficiencies of humoral immunity, Humoral immune defect, Humoral immunity deficiency, Humoural immune defect, Predominantly B-cell defect, Deficiencies of humoral immunity (finding), Humoral immune defect (finding), Humoural immunity deficiency, Deficiency of Humoral Immunity, B-Cell Deficiency, Other deficiency of humoral immunity
Italian Difetto dell'immunità umorale, Deficit dell'immunità umorale, Altro deficit dell'immunità umorale
Dutch deficiëntie van humorale immuniteit, andere deficiëntie van humorale immuniteit, humorale immuunstoornis
French Autre déficit de l'immunité humorale, Déficit de l'immunité humorale, Déficit de l'immunité à médiation humorale
Portuguese Imunodeficiência humoral, Outra imunodeficiência humoral, Imunodefeito humoral
Spanish Deficiencia de la inmunidad humoral, Otra deficiencia de la inmunidad humoral, deficiencia de la inmunidad humoral, SAI (hallazgo), deficiencia de la inmunidad humoral, SAI, defecto inmune humoral (hallazgo), defecto inmune humoral, defecto inmunitario humoral, defecto inmunológico humoral (hallazgo), defecto inmunológico humoral, deficiencias de la inmunidad humoral (hallazgo), deficiencias de la inmunidad humoral, Defecto de la inmunidad humoral
Japanese 体液性免疫不全症, 体液性免疫不全, タイエキセイメンエキフゼン, タイエキセイメンエキフゼンショウ
Czech Jiný deficit humorální imunity, Porucha humorální imunity, Humorální imunodeficience
Hungarian Humoralis immunitas hiánya, Humorális immunitás egyéb hiánya, Humoralis immundefectus
German Defekt der humoralen Immunitaet
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Immunoglobulin deficiency (C0745242)

Concepts Finding (T033)
SnomedCT 417167007
English immunoglobulin deficiency, deficiencies immunoglobulin, Immunoglobulin deficiency, immunoglobulin deficiency (diagnosis), immunoglobulin; deficiency, Immunoglobulin deficiency (disorder)
Dutch immunoglobuline; deficiëntie
Spanish deficiencia de inmunoglobulina (trastorno), deficiencia de inmunoglobulina
Sources
Derived from the NIH UMLS (Unified Medical Language System)


Defective humoral immunity (C3150510)

Concepts Finding (T033)
English Defective humoral immunity
Sources
Derived from the NIH UMLS (Unified Medical Language System)


You are currently viewing the original 'fpnotebook.com\legacy' version of this website. Internet Explorer 8.0 and older will automatically be redirected to this legacy version.

If you are using a modern web browser, you may instead navigate to the newer desktop version of fpnotebook. Another, mobile version is also available which should function on both newer and older web browsers.

Please Contact Me as you run across problems with any of these versions on the website.

Navigation Tree