Hypogammaglobulinemia

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Hypogammaglobulinemia
ICD-10 D80.0-D80.1
ICD-9 279.00
DiseasesDB 6426
MedlinePlus 001307
eMedicine med/1120  ped/54
MeSH D000361

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vindhya BellamKonda, M.B.B.S [2] Omer Kamal, M.D.[3]

Synonyms and Keywords:

Overview

Hypogammaglobulinemia is a type of primary immune deficiency disease. "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,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.

Historical Perspective

  • Dr. Robert A Good and March of dimes foundation maintained a close association for a quarter century in the fight against immunodeficiency diseases.[1]

Classification

Type[8] OMIM[9] Gene
AGM1 601495 IGHM
AGM2 613500 IGLL1
AGM3 613501 CD79A
AGM4 613502 BLNK
AGM5 613506 LRRC8A
AGM6 612692 CD79B

Pathophysiology

  • Because B, T, and natural killer (NK) cells share a common progenitor, defects occurring at early developmental stages may result in combined immunodeficiency involving all cell types, although defects further down the differentiation pathways may result in deficiencies of a single cell type only.

Causes

Hypogammaglobulinemia is caused by:[12][13][14][14][15]

Primary or congenital B-cell disorders X-linked agammaglobulinemia, Common variable immunodeficiency, transient hypogammaglobulinemia of infancy, IgG subclass deficiency,severe combined immunodeficieny, Wiskott-Aldrich syndrome, Ataxia-telanectasia
Cardiovascular No underlying causes
Dermatologic No underlying causes
Drugs Gold, D- penicillamine, Sulfasalazine, anticonvulsants, glucocorticoids, methotrexate, calcineurin inhibitors, rituximab
Ear Nose Throat No underlying causes
Endocrine No underlying causes
Environmental Ionizing radiation, Toxins
Gastroenterologic protein losing enteropathy, intestinal lymphangiectasia, Cirrhosis
Hematologic Thymoma
Iatrogenic Radiation
Infectious Disease Herpes, Measles, Mycobacterial, Malaria, helminthic infections
Nutritional / Metabolic Protein energy malnutrition
Obstetric/Gynecologic Ovarian cancer
Oncologic Chronic lymphocytic leukemia, Multiple myeloma, Thymoma
Overdose / Toxicity
Pulmonary bronchiectasis
Renal / Electrolyte Nephrotic syndrome, Hemodialysis
Trauma
Urologic No underlying causes
Miscellaneous

Differentiating Hypogammaglobulinemia from Other Diseases

Hypogammaglobulinemia must be differentiated from Bronchiectasis, complement deficiencies, and cystic fibrosis[16][17][18][19]

Medical condition Characteristic features
Complement deficiencies
  • Caused by a genetic defect in one of the genes that code for different complement proteins
  • Constitute about 7-9% of primary immunodeficiencies
  • Deficiency of C1q, C2, C4 tend to be linked with autoimmune diseases.
  • C5-C9 deficiency more prone to meningococcal disease.
Bronchiectasis
  • Secondary to an infectious process resulting in distortion of conducting bronchi
  • Copious mucopurulent sputum production lasting for months to years
  • Hemoptysis
  • Dyspnea, pleuritic chest pain, wheezing, fever, weight loss
Cystic fibrosis
  • Glomeruonephritis in most cases resolves after infection subsides
  • Decreased levels of C3 is transient
  • Immunoflouroescence microscopy shows immunoglobulin deposition in poststreptococcal infection
Staphylococcal associated glomerulonephritis
  • Glomerulonephritis resolves after infection subsides
  • Decreased C3 is transient
  • Immunofluorescence microscopy shows immunoglobulin deposition in staphylococcal associated glomerulonephritis.

Epidemiology and Demographics

Risk Factors

Common risk factors in the development of hypogammaglobulinemia include:[20]

Screening

There is insufficient evidence to recommend routine screening for hypogammaglobulinemia.

Natural History, Complications, and Prognosis

Common complications of hypogammaglobulinemia include:[24]

Diagnosis

Diagnostic Study of Choice

There is no established diagnostic study of choice for the diagnosis of hypogammaglobulinemia.

History and Symptoms

A clinical history of the following may be present:[25]

  • Recurrent infections

Symptoms may include

Physical Examination

Common physical examination findings of hypogammaglobulinemia include :[26]

Laboratory Findings

Laboratory studies that may be helpful include the following:[26]

  • Isohemagglutinins
  • Renal studies
  • GI studies (eg, alpha1-antitrypsin)

Electrocardiogram

There are no ECG findings associated with hypogammaglobulinemia.

X-ray

A chest x-ray may be helpful in the diagnosis of hypogammaglobulinemia. Findings on an x-ray may be suggestive of[29]

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with hypogammaglobulinemia.

CT scan

HRCT may show bronchial wall thickening, features of bronchiectasis, lobar and/or segmental collapse, scars, interstitial lesions and lobular air-trapping. [30]

MRI

There are no MRI findings associated with hypogammaglobulinemia

Other Imaging Findings

There are no other imaging findings associated with hypogammaglobulinemia

Other Diagnostic Studies

Other diagnostic studies for hypogammaglobulinemia include flow cytometry which demonstrates low levels of circulating memory B cells. Molecular analysis may also be used in some cases.

Treatment

Medical Therapy

Immune globulin therapy is the mainstay of treatment for a variety of primary immunodeficiency states. American Academy of Allergy, Asthma & Immunology (AAAAI) and the American College of Allergy, Asthma & Immunology (ACAAI) have jointly established the "Practice parameter for the diagnosis and management of primary immunodeficiency." [31]

Surgery

Surgical intervention is not recommended for the management of hypogammaglobulinemia

Primary Prevention

There are no established measures for the primary prevention of hypogammaglobulinemia

Secondary Prevention

There are no established measures for the secondary prevention of hypogammaglobulinemia. Antibiotics and anti-inflammatory medications can help.

References

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  2. Stiehm ER (January 1993). "New and old immunodeficiencies". Pediatr. Res. 33 (1 Suppl): S2–7; discussion S7–8. PMID 8433870. doi:10.1203/00006450-199305001-00007. 
  3. "USE OF immune globulins for the treatment of agammaglobulinemia or hypogammaglobulinemia". J Am Med Assoc. 162 (2): 117. September 1956. PMID 13357304. 
  4. SOULIER JP, BADILLET M, HERZOG F (November 1958). "[Therapeutic results in the use of human serum gamma globulins; survey of 6, 602 cases. I. Main indications for their use in infections diseases]". Presse Med (in French). 66 (84): 1881–4. PMID 13623695. 
  5. OLIVE BADOSA A (June 1958). "[Gamma globulin in immunological therapeutics: critical analysis]". Rev Clin Esp (in Spanish; Castilian). 69 (6): 361–4. PMID 13591696. 
  6. LODODO KS, BAVAEVA SN (February 1959). "[Treatment of whooping cough with placental gamma-globulin]". Pediatriia (in Russian). 14 (2): 38–42. PMID 13645155. 
  7. SAXL O (December 1958). "[Treatment of severe infections with gamma globulin]". Z Arztl Fortbild (Jena) (in German). 52 (24): 1030–3. PMID 13648484. 
  8. Claman HN, Hartley TF, Merrill D (October 1966). "Hypogammaglobulinemia, primary and secondary: immunoglobulin levels (gamma-G, gamma-A, gamma-M) in one hundred and twenty-five patients". J Allergy. 38 (4): 215–25. PMID 4162597. 
  9. Bryant A, Calver NC, Toubi E, Webster AD, Farrant J (August 1990). "Classification of patients with common variable immunodeficiency by B cell secretion of IgM and IgG in response to anti-IgM and interleukin-2". Clin. Immunol. Immunopathol. 56 (2): 239–48. PMID 2165880. 
  10. Artac H, Kara R, Gokturk B, Reisli I (November 2013). "Reduced CD19 expression and decreased memory B cell numbers in transient hypogammaglobulinemia of infancy". Clin. Exp. Med. 13 (4): 257–63. PMID 22820757. doi:10.1007/s10238-012-0200-y. 
  11. Dorsey MJ, Orange JS (November 2006). "Impaired specific antibody response and increased B-cell population in transient hypogammaglobulinemia of infancy". Ann. Allergy Asthma Immunol. 97 (5): 590–5. PMID 17165264. doi:10.1016/S1081-1206(10)61085-X. 
  12. Sneller MC (January 2001). "Common variable immunodeficiency". Am. J. Med. Sci. 321 (1): 42–8. PMID 11202479. 
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  15. Ciesielka D (April 2004). "Clinical evaluation and treatment of the adult patient with suspected primary immunodeficiency disease: a case analysis". J Am Acad Nurse Pract. 16 (4): 158–65. PMID 15137474. 
  16. Saffran DC, Parolini O, Fitch-Hilgenberg ME, Rawlings DJ, Afar DE, Witte ON, Conley ME (May 1994). "Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia". N. Engl. J. Med. 330 (21): 1488–91. PMID 8164701. doi:10.1056/NEJM199405263302104. 
  17. Kornfeld SJ, Kratz J, Haire RN, Litman GW, Good RA (April 1995). "X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy". J. Allergy Clin. Immunol. 95 (4): 915–7. PMID 7722175. 
  18. Vetrie D, Vorechovský I, Sideras P, Holland J, Davies A, Flinter F, Hammarström L, Kinnon C, Levinsky R, Bobrow M (January 1993). "The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases". Nature. 361 (6409): 226–33. PMID 8380905. doi:10.1038/361226a0. 
  19. Buckley RH (November 1992). "Immunodeficiency diseases". JAMA. 268 (20): 2797–806. PMID 1433695. 
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  21. Casulo C, Maragulia J, Zelenetz AD (April 2013). "Incidence of hypogammaglobulinemia in patients receiving rituximab and the use of intravenous immunoglobulin for recurrent infections". Clin Lymphoma Myeloma Leuk. 13 (2): 106–11. PMC 4035033Freely accessible. PMID 23276889. doi:10.1016/j.clml.2012.11.011. 
  22. Christou E, Giardino G, Worth A, Ladomenou F (November 2017). "Risk factors predisposing to the development of hypogammaglobulinemia and infections post-Rituximab". Int. Rev. Immunol. 36 (6): 352–359. PMID 28800262. doi:10.1080/08830185.2017.1346092. 
  23. Taneja A, Chhabra A. PMID 28846295. 
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  25. Kiliç SS, Tezcan I, Sanal O, Metin A, Ersoy F (December 2000). "Transient hypogammaglobulinemia of infancy: clinical and immunologic features of 40 new cases". Pediatr Int. 42 (6): 647–50. PMID 11192522. 
  26. 26.0 26.1 Zaman M, Huissoon A, Buckland M, Patel S, Alachkar H, Edgar JD, Thomas M, Arumugakani G, Baxendale H, Burns S, Williams AP, Jolles S, Herriot R, Sargur RB, Arkwright PD (September 2018). "Clinical & laboratory features of seventy-eight UK patients with Good's syndrome (thymoma & hypogammaglobulinemia)". Clin. Exp. Immunol. PMID 30216434 . doi:10.1111/cei.13216. 
  27. Bogaert DJ, Dullaers M, Lambrecht BN, Vermaelen KY, De Baere E, Haerynck F (September 2016). "Genes associated with common variable immunodeficiency: one diagnosis to rule them all?". J. Med. Genet. 53 (9): 575–90. PMID 27250108. doi:10.1136/jmedgenet-2015-103690. 
  28. Clerici M, Villa ML, Mantovani M, Rugarli C (November 1988). "NK cell activity and monocyte dysfunctions in a patient with common variable hypogammaglobulinemia". J Clin Lab Immunol. 27 (3): 143–7. PMID 2977623. 
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  30. Feydy A, Sibilia J, De Kerviler E, Zagdanski AM, Chevret S, Fermand JP, Brouet JC, Frija J (December 1996). "Chest high resolution CT in adults with primary humoral immunodeficiency". Br J Radiol. 69 (828): 1108–16. PMID 9135465. doi:10.1259/0007-1285-69-828-1108. 
  31. Bonilla FA, Khan DA, Ballas ZK, Chinen J, Frank MM, Hsu JT, Keller M, Kobrynski LJ, Komarow HD, Mazer B, Nelson RP, Orange JS, Routes JM, Shearer WT, Sorensen RU, Verbsky JW, Bernstein DI, Blessing-Moore J, Lang D, Nicklas RA, Oppenheimer J, Portnoy JM, Randolph CR, Schuller D, Spector SL, Tilles S, Wallace D (November 2015). "Practice parameter for the diagnosis and management of primary immunodeficiency". J. Allergy Clin. Immunol. 136 (5): 1186–205.e1–78. PMID 26371839. doi:10.1016/j.jaci.2015.04.049. 



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