Selective immunoglobulin A deficiency

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Synonyms and keywords:

Overview

Historical Perspective

[Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].

The association between [important risk factor/cause] and [disease name] was made in/during [year/event].

In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].

In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].

There have been several outbreaks of [disease name], including -----.

In [year], [diagnostic test/therapy] was developed by [scientist] to treat/diagnose [disease name].

Classification

  • Selective IgA immunodeficiency can be classified based on the clinical presentation of patients

Pathophysiology

  • Several studies were carried out to establish the mechanism involved in selective IgA immunodeficiency but the exact pathogensis is still not clear.
  • SIgAD has been attributed to an intrinsic B cell lymphocyte defect, T cell abnormalities and most recently an impairment in cytokine regulation indicating that it is a heterogenous dysfunction.[1][2][3]
  • The most common pathological process involved in patients with selective immunoglobulin A deficiency is a maturation defect in B cells to produce IgA.[4]
  • Normally, the surface immunoglobulins are acquired in a sequential manner in B- cell differentiation. The first surface immunoglobulin to appear on B cells is IgM, as the cells mature they acquire surface IgD and sometimes IgA or IgG. A fully differentiated B cell performs a specfic function which means it would bear a specfic surface immunoglobulin.It is found that Patients with sIgAD have B cells arrested at a stage where they coexpress surface IgM, IgD as well as IgA and donot develop into IgA secreting plasma cells.[5].
  • The abnormality appears to involve stem cells as it can be passed on by bone marrow transplantation.[6]
  • Cytokine dysregulation such as lack of IL-4, IL-6, IL-7, IL-10 and now of IL-21 is suggested to play a role in SIgAD.[2][3].

Causes

Disease name] may be caused by [cause1], [cause2], or [cause3].

OR

Common causes of [disease] include [cause1], [cause2], and [cause3].

OR

The most common cause of [disease name] is [cause 1]. Less common causes of [disease name] include [cause 2], [cause 3], and [cause 4].

OR

The cause of [disease name] has not been identified. To review risk factors for the development of [disease name], click here.

Differentiating IgA Deficiency from Other Diseases

IgA defieciency should be differentiated from other disorders leading to hypogammaglobulinemia and defects of humoral immunity. The following conditions may be considered as differentials:[7][8][9][10][11][12][13][14][15][1][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][29][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50][51][52][53][54][55]

Disorder Defect (Mechanism of Development) Characteristic Features Clinical Presentation Laboratory Findings
X-Linked (Bruton) Agammaglobulinemia
Selective IgA Deficiency
  • Serum IgA < 7 mg/dl
  • Normal IgG and IgM levels
Common Variable Immunodeficiency
  • Defective B cell differentiation
  • May be acquired in 20-30 years of age
Autosomal dominant hype IgE syndrome (Job's Syndrome)
  • Distinctive coarse facies
  • Cold (non-inflammatory) Staphylococcal abscesses
  • Retained primary teeth
  • Eczema
Severe combined immunodeficiency (SCID)
Ataxia Telangiectasia
Hyper IgM Syndrome
Wiskott-Aldrich Syndrome
  • Malignancy: can cause the reduction in the immunoglobulin production.[56]
  • Viral infections: such as Epstein-Barr virus, HIV, cytomegalovirus are other causes of hypogammaglobulinemia..
  • Side effect of certain medications: Some drugs include systemic glucocorticoids, phenytoin, and carbamazepine, have been associated with IgG deficiency.[57]
  • Other causes of primary humoral immunodeficiencies.
  • Smoking: may cause IgG2 subclass deficiency.[58]
  • Protein-losing conditions: enteropathies, nephrotic syndrome, burns, and other traumas may cause abnormal loss of immunoglobulins.

fferential dx3].

Epidemiology and Demographics

The incidence/prevalence of [disease name] is approximately [number range] per 100,000 individuals worldwide.

OR

In [year], the incidence/prevalence of [disease name] was estimated to be [number range] cases per 100,000 individuals worldwide.

OR

In [year], the incidence of [disease name] is approximately [number range] per 100,000 individuals with a case-fatality rate of [number range]%.


Patients of all age groups may develop [disease name].

OR

The incidence of [disease name] increases with age; the median age at diagnosis is [#] years.

OR

[Disease name] commonly affects individuals younger than/older than [number of years] years of age.

OR

[Chronic disease name] is usually first diagnosed among [age group].

OR

[Acute disease name] commonly affects [age group].


There is no racial predilection to [disease name].

OR

[Disease name] usually affects individuals of the [race 1] race. [Race 2] individuals are less likely to develop [disease name].


[Disease name] affects men and women equally.

OR

[Gender 1] are more commonly affected by [disease name] than [gender 2]. The [gender 1] to [gender 2] ratio is approximately [number > 1] to 1.


The majority of [disease name] cases are reported in [geographical region].

OR

[Disease name] is a common/rare disease that tends to affect [patient population 1] and [patient population 2].

Risk Factors

There are no established risk factors for [disease name].

OR

The most potent risk factor in the development of [disease name] is [risk factor 1]. Other risk factors include [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] include [risk factor 1], [risk factor 2], [risk factor 3], and [risk factor 4].

OR

Common risk factors in the development of [disease name] may be occupational, environmental, genetic, and viral.

Screening

There is insufficient evidence to recommend routine screening for [disease/malignancy].

OR

According to the [guideline name], screening for [disease name] is not recommended.

OR

According to the [guideline name], screening for [disease name] by [test 1] is recommended every [duration] among patients with [condition 1], [condition 2], and [condition 3].

Natural History, Complications, and Prognosis

If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].

OR

Common complications of [disease name] include [complication 1], [complication 2], and [complication 3].

OR

Prognosis is generally excellent/good/poor, and the 1/5/10-year mortality/survival rate of patients with [disease name] is approximately [#]%.

Diagnosis

Diagnostic Study of Choice

The diagnosis of [disease name] is made when at least [number] of the following [number] diagnostic criteria are met: [criterion 1], [criterion 2], [criterion 3], and [criterion 4].

OR

The diagnosis of [disease name] is based on the [criteria name] criteria, which include [criterion 1], [criterion 2], and [criterion 3].

OR

The diagnosis of [disease name] is based on the [definition name] definition, which includes [criterion 1], [criterion 2], and [criterion 3].

OR

There are no established criteria for the diagnosis of [disease name].

History and Symptoms

The majority of patients with [disease name] are asymptomatic.

OR

The hallmark of [disease name] is [finding]. A positive history of [finding 1] and [finding 2] is suggestive of [disease name]. The most common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3]. Common symptoms of [disease] include [symptom 1], [symptom 2], and [symptom 3]. Less common symptoms of [disease name] include [symptom 1], [symptom 2], and [symptom 3].

Physical Examination

Patients with [disease name] usually appear [general appearance]. Physical examination of patients with [disease name] is usually remarkable for [finding 1], [finding 2], and [finding 3].

OR

Common physical examination findings of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

The presence of [finding(s)] on physical examination is diagnostic of [disease name].

OR

The presence of [finding(s)] on physical examination is highly suggestive of [disease name].

Laboratory Findings

An elevated/reduced concentration of serum/blood/urinary/CSF/other [lab test] is diagnostic of [disease name].

OR

Laboratory findings consistent with the diagnosis of [disease name] include [abnormal test 1], [abnormal test 2], and [abnormal test 3].

OR

[Test] is usually normal among patients with [disease name].

OR

Some patients with [disease name] may have elevated/reduced concentration of [test], which is usually suggestive of [progression/complication].

OR

There are no diagnostic laboratory findings associated with [disease name].

Electrocardiogram

There are no ECG findings associated with [disease name].

OR

An ECG may be helpful in the diagnosis of [disease name]. Findings on an ECG suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

X-ray

There are no x-ray findings associated with [disease name].

OR

An x-ray may be helpful in the diagnosis of [disease name]. Findings on an x-ray suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no x-ray findings associated with [disease name]. However, an x-ray may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Echocardiography or Ultrasound

There are no echocardiography/ultrasound findings associated with [disease name].

OR

Echocardiography/ultrasound may be helpful in the diagnosis of [disease name]. Findings on an echocardiography/ultrasound suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no echocardiography/ultrasound findings associated with [disease name]. However, an echocardiography/ultrasound may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

CT scan

There are no CT scan findings associated with [disease name].

OR

[Location] CT scan may be helpful in the diagnosis of [disease name]. Findings on CT scan suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no CT scan findings associated with [disease name]. However, a CT scan may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

MRI

There are no MRI findings associated with [disease name].

OR

[Location] MRI may be helpful in the diagnosis of [disease name]. Findings on MRI suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

There are no MRI findings associated with [disease name]. However, a MRI may be helpful in the diagnosis of complications of [disease name], which include [complication 1], [complication 2], and [complication 3].

Other Imaging Findings

There are no other imaging findings associated with [disease name].

OR

[Imaging modality] may be helpful in the diagnosis of [disease name]. Findings on an [imaging modality] suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

Other Diagnostic Studies

There are no other diagnostic studies associated with [disease name].

OR

[Diagnostic study] may be helpful in the diagnosis of [disease name]. Findings suggestive of/diagnostic of [disease name] include [finding 1], [finding 2], and [finding 3].

OR

Other diagnostic studies for [disease name] include [diagnostic study 1], which demonstrates [finding 1], [finding 2], and [finding 3], and [diagnostic study 2], which demonstrates [finding 1], [finding 2], and [finding 3].

Treatment

Medical Therapy

There is no treatment for [disease name]; the mainstay of therapy is supportive care.

OR

Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].

OR

The majority of cases of [disease name] are self-limited and require only supportive care.

OR

[Disease name] is a medical emergency and requires prompt treatment.

OR

The mainstay of treatment for [disease name] is [therapy].

OR   The optimal therapy for [malignancy name] depends on the stage at diagnosis.

OR

[Therapy] is recommended among all patients who develop [disease name].

OR

Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].

OR

Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].

OR

Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].

OR

Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].

Surgery

Surgical intervention is not recommended for the management of [disease name].

OR

Surgery is not the first-line treatment option for patients with [disease name]. Surgery is usually reserved for patients with either [indication 1], [indication 2], and [indication 3]

OR

The mainstay of treatment for [disease name] is medical therapy. Surgery is usually reserved for patients with either [indication 1], [indication 2], and/or [indication 3].

OR

The feasibility of surgery depends on the stage of [malignancy] at diagnosis.

OR

Surgery is the mainstay of treatment for [disease or malignancy].

Primary Prevention

There are no established measures for the primary prevention of [disease name].

OR

There are no available vaccines against [disease name].

OR

Effective measures for the primary prevention of [disease name] include [measure1], [measure2], and [measure3].

OR

[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].

Secondary Prevention

There are no established measures for the secondary prevention of [disease name].

OR

Effective measures for the secondary prevention of [disease name] include [strategy 1], [strategy 2], and [strategy 3].

References

  1. ↑ 1.0 1.1 Cunningham-Rundles C (September 2001). "Physiology of IgA and IgA deficiency". J. Clin. Immunol. 21 (5): 303–9. PMID 11720003.
  2. ↑ 2.0 2.1 Borte S, Pan-Hammarström Q, Liu C, Sack U, Borte M, Wagner U, Graf D, Hammarström L (November 2009). "Interleukin-21 restores immunoglobulin production ex vivo in patients with common variable immunodeficiency and selective IgA deficiency". Blood. 114 (19): 4089–98. doi:10.1182/blood-2009-02-207423. PMID 19738033.
  3. ↑ 3.0 3.1 Ramsay AJ, Husband AJ, Ramshaw IA, Bao S, Matthaei KI, Koehler G, Kopf M (April 1994). "The role of interleukin-6 in mucosal IgA antibody responses in vivo". Science. 264 (5158): 561–3. PMID 8160012.
  4. ↑ Wang Z, Yunis D, Irigoyen M, Kitchens B, Bottaro A, Alt FW, Alper CA (June 1999). "Discordance between IgA switching at the DNA level and IgA expression at the mRNA level in IgA-deficient patients". Clin. Immunol. 91 (3): 263–70. doi:10.1006/clim.1999.4702. PMID 10370371.
  5. ↑ Conley ME, Cooper MD (August 1981). "Immature IgA B cells in IgA-deficient patients". N. Engl. J. Med. 305 (9): 495–7. doi:10.1056/NEJM198108273050905. PMID 6973088.
  6. ↑ Hammarström L, Lönnqvist B, Ringdén O, Smith CI, Wiebe T (April 1985). "Transfer of IgA deficiency to a bone-marrow-grafted patient with aplastic anaemia". Lancet. 1 (8432): 778–81. PMID 2858666.
  7. ↑ Agarwal S, Cunningham-Rundles C (September 2007). "Assessment and clinical interpretation of reduced IgG values". Ann. Allergy Asthma Immunol. 99 (3): 281–3. doi:10.1016/S1081-1206(10)60665-5. PMC 3099256. PMID 17910333.
  8. ↑ Korthäuer U, Graf D, Mages HW, Brière F, Padayachee M, Malcolm S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA (February 1993). "Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM". Nature. 361 (6412): 539–41. doi:10.1038/361539a0. PMID 7679206.
  9. ↑ Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD (July 1997). "Clinical spectrum of X-linked hyper-IgM syndrome". J. Pediatr. 131 (1 Pt 1): 47–54. PMID 9255191.
  10. ↑ Winkelstein JA, Marino MC, Ochs H, Fuleihan R, Scholl PR, Geha R, Stiehm ER, Conley ME (November 2003). "The X-linked hyper-IgM syndrome: clinical and immunologic features of 79 patients". Medicine (Baltimore). 82 (6): 373–84. doi:10.1097/01.md.0000100046.06009.b0. PMID 14663287.
  11. ↑ Subauste CS, Wessendarp M, Sorensen RU, Leiva LE (June 1999). "CD40-CD40 ligand interaction is central to cell-mediated immunity against Toxoplasma gondii: patients with hyper IgM syndrome have a defective type 1 immune response that can be restored by soluble CD40 ligand trimer". J. Immunol. 162 (11): 6690–700. PMID 10352287.
  12. ↑ Hayward AR, Levy J, Facchetti F, Notarangelo L, Ochs HD, Etzioni A, Bonnefoy JY, Cosyns M, Weinberg A (January 1997). "Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM". J. Immunol. 158 (2): 977–83. PMID 8993019.
  13. ↑ Davies EG, Thrasher AJ (April 2010). "Update on the hyper immunoglobulin M syndromes". Br. J. Haematol. 149 (2): 167–80. doi:10.1111/j.1365-2141.2010.08077.x. PMC 2855828. PMID 20180797.
  14. ↑ Yel L (January 2010). "Selective IgA deficiency". J. Clin. Immunol. 30 (1): 10–6. doi:10.1007/s10875-009-9357-x. PMC 2821513. PMID 20101521.
  15. ↑ Suzuki H, Kaneko H, Fukao T, Jin R, Kawamoto N, Asano T, Matsui E, Kasahara K, Kondo N (March 2009). "Various expression patterns of alpha1 and alpha2 genes in IgA deficiency". Allergol Int. 58 (1): 111–7. doi:10.2332/allergolint.O-08-549. PMID 19153537.
  16. ↑ Edwards E, Razvi S, Cunningham-Rundles C (April 2004). "IgA deficiency: clinical correlates and responses to pneumococcal vaccine". Clin. Immunol. 111 (1): 93–7. doi:10.1016/j.clim.2003.12.005. PMID 15093556.
  17. ↑ Chipps BE, Talamo RC, Winkelstein JA (April 1978). "IgA deficiency, recurrent pneumonias, and bronchiectasis". Chest. 73 (4): 519–26. PMID 305332.
  18. ↑ Zinneman HH, Kaplan AP (September 1972). "The association of giardiasis with reduced intestinal secretory immunoglobulin A". Am J Dig Dis. 17 (9): 793–7. PMID 5056860.
  19. ↑ Aghamohammadi A, Cheraghi T, Gharagozlou M, Movahedi M, Rezaei N, Yeganeh M, Parvaneh N, Abolhassani H, Pourpak Z, Moin M (January 2009). "IgA deficiency: correlation between clinical and immunological phenotypes". J. Clin. Immunol. 29 (1): 130–6. doi:10.1007/s10875-008-9229-9. PMID 18683032.
  20. ↑ Janzi M, Kull I, Sjöberg R, Wan J, Melén E, Bayat N, Ostblom E, Pan-Hammarström Q, Nilsson P, Hammarström L (October 2009). "Selective IgA deficiency in early life: association to infections and allergic diseases during childhood". Clin. Immunol. 133 (1): 78–85. doi:10.1016/j.clim.2009.05.014. PMID 19541543.
  21. ↑ Jacob CM, Pastorino AC, Fahl K, Carneiro-Sampaio M, Monteiro RC (May 2008). "Autoimmunity in IgA deficiency: revisiting the role of IgA as a silent housekeeper". J. Clin. Immunol. 28 Suppl 1: S56–61. doi:10.1007/s10875-007-9163-2. PMID 18202833.
  22. ↑ Conley ME, Notarangelo LD, Etzioni A (December 1999). "Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies)". Clin. Immunol. 93 (3): 190–7. doi:10.1006/clim.1999.4799. PMID 10600329.
  23. ↑ Mayer RJ, Schiffer CA, Peterson BA, Silver RT, Cornwell GG, McIntyre OR, Rai KR, Budman DR, Ellison RR, Maguire M (June 1985). "Intensive postremission therapy in adults with acute nonlymphocytic leukemia with ara-C by continuous infusion or bolus administration: preliminary results of a CALGB phase I study". Semin. Oncol. 12 (2 Suppl 3): 84–90. PMID 4012343.
  24. ↑ Massaad MJ, Ramesh N, Geha RS (May 2013). "Wiskott-Aldrich syndrome: a comprehensive review". Ann. N. Y. Acad. Sci. 1285: 26–43. doi:10.1111/nyas.12049. PMID 23527602.
  25. ↑ Candotti F (January 2018). "Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome". J. Clin. Immunol. 38 (1): 13–27. doi:10.1007/s10875-017-0453-z. PMID 29086100.
  26. ↑ Sereni L, Castiello MC, Villa A (March 2018). "Platelets in Wiskott-Aldrich syndrome: Victims or executioners?". J. Leukoc. Biol. 103 (3): 577–590. doi:10.1189/jlb.5MR0617-257R. PMID 28851742.
  27. ↑ Blundell MP, Worth A, Bouma G, Thrasher AJ (2010). "The Wiskott-Aldrich syndrome: The actin cytoskeleton and immune cell function". Dis. Markers. 29 (3–4): 157–75. doi:10.3233/DMA-2010-0735. PMC 3835520. PMID 21178275.
  28. ↑ Bosticardo M, Marangoni F, Aiuti A, Villa A, Grazia Roncarolo M (June 2009). "Recent advances in understanding the pathophysiology of Wiskott-Aldrich syndrome". Blood. 113 (25): 6288–95. doi:10.1182/blood-2008-12-115253. PMID 19351959.
  29. ↑ 29.0 29.1 Fischer A (November 2000). "Severe combined immunodeficiencies (SCID)". Clin. Exp. Immunol. 122 (2): 143–9. PMC 1905779. PMID 11091267.
  30. ↑ Noguchi M, Yi H, Rosenblatt HM, Filipovich AH, Adelstein S, Modi WS, McBride OW, Leonard WJ (April 1993). "Interleukin-2 receptor gamma chain mutation results in X-linked severe combined immunodeficiency in humans". Cell. 73 (1): 147–57. PMID 8462096.
  31. ↑ Puck JM (November 1996). "IL2RGbase: a database of gamma c-chain defects causing human X-SCID". Immunol. Today. 17 (11): 507–11. PMID 8961626.
  32. ↑ Rowiński J, Souchier C, Czyba JC (1978). "DNA content of cells in human buccal smears. A preliminary study". Acta Histochem. 62 (2): 276–81. doi:10.1016/S0065-1281(78)80093-2. PMID 104530.
  33. ↑ Morgan G, Levinsky RJ, Hugh-Jones K, Fairbanks LD, Morris GS, Simmonds HA (December 1987). "Heterogeneity of biochemical, clinical and immunological parameters in severe combined immunodeficiency due to adenosine deaminase deficiency". Clin. Exp. Immunol. 70 (3): 491–9. PMC 1542189. PMID 3436096.
  34. ↑ Ballard RW, Cummings CW (August 1980). "Job's syndrome". Laryngoscope. 90 (8 Pt 1): 1367–70. PMID 7401839.
  35. ↑ Freeman AF, Holland SM (May 2008). "The hyper-IgE syndromes". Immunol Allergy Clin North Am. 28 (2): 277–91, viii. doi:10.1016/j.iac.2008.01.005. PMC 2683262. PMID 18424333.
  36. ↑ Holland SM, DeLeo FR, Elloumi HZ, Hsu AP, Uzel G, Brodsky N, Freeman AF, Demidowich A, Davis J, Turner ML, Anderson VL, Darnell DN, Welch PA, Kuhns DB, Frucht DM, Malech HL, Gallin JI, Kobayashi SD, Whitney AR, Voyich JM, Musser JM, Woellner C, Schäffer AA, Puck JM, Grimbacher B (October 2007). "STAT3 mutations in the hyper-IgE syndrome". N. Engl. J. Med. 357 (16): 1608–19. doi:10.1056/NEJMoa073687. PMID 17881745.
  37. ↑ Ling JC, Freeman AF, Gharib AM, Arai AE, Lederman RJ, Rosing DR, Holland SM (March 2007). "Coronary artery aneurysms in patients with hyper IgE recurrent infection syndrome". Clin. Immunol. 122 (3): 255–8. doi:10.1016/j.clim.2006.10.005. PMID 17098478.
  38. ↑ Hutto JO, Bryan CS, Greene FL, White CJ, Gallin JI (March 1988). "Cryptococcosis of the colon resembling Crohn's disease in a patient with the hyperimmunoglobulinemia E-recurrent infection (Job's) syndrome". Gastroenterology. 94 (3): 808–12. PMID 3338649.
  39. ↑ O'Connell AC, Puck JM, Grimbacher B, Facchetti F, Majorana A, Gallin JI, Malech HL, Holland SM (February 2000). "Delayed eruption of permanent teeth in hyperimmunoglobulinemia E recurrent infection syndrome". Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 89 (2): 177–85. doi:10.1067/moe.2000.103129. PMID 10673653.
  40. ↑ Tam JS, Routes JM (2013). "Common variable immunodeficiency". Am J Rhinol Allergy. 27 (4): 260–5. doi:10.2500/ajra.2013.27.3899. PMC 3901442. PMID 23883805.
  41. ↑ Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C (February 2012). "Morbidity and mortality in common variable immune deficiency over 4 decades". Blood. 119 (7): 1650–7. doi:10.1182/blood-2011-09-377945. PMC 3286343. PMID 22180439.
  42. ↑ Oksenhendler E, Gérard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, Viallard JF, Gardembas M, Galicier L, Schleinitz N, Suarez F, Soulas-Sprauel P, Hachulla E, Jaccard A, Gardeur A, Théodorou I, Rabian C, Debré P (May 2008). "Infections in 252 patients with common variable immunodeficiency". Clin. Infect. Dis. 46 (10): 1547–54. doi:10.1086/587669. PMID 18419489.
  43. ↑ Roifman CM, Rao CP, Lederman HM, Lavi S, Quinn P, Gelfand EW (April 1986). "Increased susceptibility to Mycoplasma infection in patients with hypogammaglobulinemia". Am. J. Med. 80 (4): 590–4. PMID 3963038.
  44. ↑ Yong PF, Thaventhiran JE, Grimbacher B (2011). ""A rose is a rose is a rose," but CVID is Not CVID common variable immune deficiency (CVID), what do we know in 2011?". Adv. Immunol. 111: 47–107. doi:10.1016/B978-0-12-385991-4.00002-7. PMID 21970952.
  45. ↑ Salzer U, Chapel HM, Webster AD, Pan-Hammarström Q, Schmitt-Graeff A, Schlesier M, Peter HH, Rockstroh JK, Schneider P, Schäffer AA, Hammarström L, Grimbacher B (August 2005). "Mutations in TNFRSF13B encoding TACI are associated with common variable immunodeficiency in humans". Nat. Genet. 37 (8): 820–8. doi:10.1038/ng1600. PMID 16007087.
  46. ↑ Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, Claudio P, Franco D, Maria Pesce A, Borghese F, Guerra A, Rondelli R, Plebani A (May 2007). "Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency". J. Clin. Immunol. 27 (3): 308–16. doi:10.1007/s10875-007-9075-1. PMID 17510807.
  47. ↑ Nissenkorn A, Ben-Zeev B (2015). "Ataxia telangiectasia". Handb Clin Neurol. 132: 199–214. doi:10.1016/B978-0-444-62702-5.00014-7. PMID 26564081.
  48. ↑ Rothblum-Oviatt C, Wright J, Lefton-Greif MA, McGrath-Morrow SA, Crawford TO, Lederman HM (November 2016). "Ataxia telangiectasia: a review". Orphanet J Rare Dis. 11 (1): 159. doi:10.1186/s13023-016-0543-7. PMC 5123280. PMID 27884168.
  49. ↑ Crawford TO (December 1998). "Ataxia telangiectasia". Semin Pediatr Neurol. 5 (4): 287–94. PMID 9874856.
  50. ↑ Boder E (1985). "Ataxia-telangiectasia: an overview". Kroc Found Ser. 19: 1–63. PMID 2415689.
  51. ↑ Hoche F, Seidel K, Theis M, Vlaho S, Schubert R, Zielen S, Kieslich M (June 2012). "Neurodegeneration in ataxia telangiectasia: what is new? What is evident?". Neuropediatrics. 43 (3): 119–29. doi:10.1055/s-0032-1313915. PMID 22614068.
  52. ↑ BODER E, SEDGWICK RP (April 1958). "Ataxia-telangiectasia; a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection". Pediatrics. 21 (4): 526–54. PMID 13542097.
  53. ↑ Sahama I, Sinclair K, Pannek K, Lavin M, Rose S (August 2014). "Radiological imaging in ataxia telangiectasia: a review". Cerebellum. 13 (4): 521–30. doi:10.1007/s12311-014-0557-4. PMID 24683014.
  54. ↑ Lin DD, Barker PB, Lederman HM, Crawford TO (January 2014). "Cerebral abnormalities in adults with ataxia-telangiectasia". AJNR Am J Neuroradiol. 35 (1): 119–23. doi:10.3174/ajnr.A3646. PMC 4106125. PMID 23886747.
  55. ↑ Nowak-Wegrzyn A, Crawford TO, Winkelstein JA, Carson KA, Lederman HM (April 2004). "Immunodeficiency and infections in ataxia-telangiectasia". J. Pediatr. 144 (4): 505–11. doi:10.1016/j.jpeds.2003.12.046. PMID 15069401.
  56. ↑ T. Zenone, P. J. Souquet, C. Cunningham-Rundles & J. P. Bernard (1996). "Hodgkin's disease associated with IgA and IgG subclass deficiency". Journal of internal medicine. 240 (2): 99–102. PMID 8810936. Unknown parameter |month= ignored (help)
  57. ↑ W. B. Klaustermeyer, M. E. Gianos, M. L. Kurohara, H. T. Dao & D. C. Heiner (1992). "IgG subclass deficiency associated with corticosteroids in obstructive lung disease". Chest. 102 (4): 1137–1142. PMID 1343817. Unknown parameter |month= ignored (help)
  58. ↑ I. Qvarfordt, G. C. Riise, B. A. Andersson & S. Larsson (2001). "IgG subclasses in smokers with chronic bronchitis and recurrent exacerbations". Thorax. 56 (6): 445–449. PMID 11359959. Unknown parameter |month= ignored (help)


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