Summary
Definition
History and exam
Key diagnostic factors
- presença de fatores de risco
- infecção recorrente
- infecção com espécies Streptococcus pneumoniae ou Haemophilus
- infecção com patógenos atípicos
- uso repetitivo de antibiótico
- estertores respiratórios, chiado agudo ao inspirar, roncos
Other diagnostic factors
- ausência na escola/no trabalho
- retardo do crescimento pôndero-estatural
- diarreia
- sinusite
- palidez
- perfuração da membrana timpânica
- doença após vacinas com vírus vivos
- perda de peso, sudorese noturna, febres
- edema
- alopecia, bócio, vitiligo
- eczema
- amígdalas pequenas/ausentes
- linfadenopatia e hepatoesplenomegalia
- história de doença celíaca ou reações transfusionais
- susceptibilidade à fadiga muscular, ptose, diplopia (se houver timoma)
- características dismórficas
- comprometimento neurológico
Risk factors
- sexo masculino
- história familiar positiva de imunodeficiência primária
- estado com perda grave de proteínas
- neoplasia hematológica
- medicamentos anticonvulsivantes e imunossupressores
Diagnostic tests
1st tests to order
- Hemograma completo
- imunoglobulina G (IgG) sérica
- imunoglobulina A (IgA) sérica
- imunoglobulina M (IgM) sérica
- eletroforese de proteínas séricas e urinárias
- cadeias leves livres no soro
- tira reagente para exame de urina
- creatinina sérica
- albumina sérica
- TFHs
- cultura de escarro
- coprocultura
- radiografia torácica
Tests to consider
- citometria de fluxo: subgrupos de linfócitos
- anticorpos antimicrobianos específicos
- teste da resposta à imunização
- subclasses de IgG
- citometria de fluxo: expressão de proteína
- teste genético
- ensaios enzimáticos
- ultrassonografia abdominal
- tomografia computadorizada (TC) de tórax/seios nasais
- tomografia computadorizada (TC) abdominal
- teste de função pulmonar
- biópsia de linfonodos
- biópsia do intestino delgado e grosso
- reação em cadeia da polimerase para infecção viral
- reação em cadeia da polimerase para antígeno de superfície da hepatite B, hepatite B e C
Treatment algorithm
hipogamaglobulinemia primária
hipogamaglobulinemia secundária
Contributors
Authors
Sara Barmettler, MD
Allergy and Clinical Immunology Unit
Division of Rheumatology, Allergy & Immunology
Massachusetts General Hospital
Boston
MA
Disclosures
SB is an author of some references cited in this topic. SB was on a scientific advisory board for CSL Behring.
Acknowledgements
Dr Sara Barmettler would like to gratefully acknowledge Dr Mohammed Yousuf Karim, Dr Patrick Yong, and Dr Zoe Adhya, previous contributors to this topic.
Disclosures
MYK serves on the advisory board for Allergy Therapeutics. PY and ZA declare that they have no competing interests.
Peer reviewers
John B. Ziegler, MD
Associate Professor of Pediatrics
University of New South Wales
Department of Immunology and Infectious Diseases
Sydney Children's Hospital
Sydney
NSW
Australia
Disclosures
JBZ declares that he has no competing interests.
Charlotte Cunningham-Rundles, MD, PhD
Professor of Medicine and Pediatrics
Immunology Institute
Mount Sinai School of Medicine
New York
NY
Disclosures
CCR is an author of several references cited in this topic.
David Webster, MD, FRCP, FRCPath
Honorary Clinical Scientist
UCL Centre for Primary Immunodeficiency
University College London Medical School
Department of Immunology
Royal Free Hospital
London
UK
Disclosures
DW declares that he has no competing interests.
Peer reviewer acknowledgements
BMJ Best Practice topics are updated on a rolling basis in line with developments in evidence and guidance. The peer reviewers listed here have reviewed the content at least once during the history of the topic.
Disclosures
Peer reviewer affiliations and disclosures pertain to the time of the review.
References
Key articles
Tangye SG, Al-Herz W, Bousfiha A, et al. Human inborn errors of immunity: 2022 update on the classification from the International Union of Immunological Societies Expert Committee J Clin Immunol. 2022 Jun 24;1-35 [Epub ahead of print].Full text Abstract
Otani IM, Lehman HK, Jongco AM, et al. Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: a Work Group report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees. J Allergy Clin Immunol. 2022 May;149(5):1525-60.Full text Abstract
Bonilla FA, Khan DA, Ballas ZK, et al. Practice parameter for the diagnosis and management of primary immunodeficiency. J Allergy Clin Immunol. 2015 Nov;136(5):1186-205;e1-78.Full text Abstract
Kohn DB, Hershfield MS, Puck JM, et al. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2019 Mar;143(3):852-63.Full text Abstract
National Blood Authority, Australia. Criteria for the clinical use of immunoglobulin in Australia: version 3. 2018 [internet publication].Full text
Reference articles
A full list of sources referenced in this topic is available to users with access to all of BMJ Best Practice.
Differentials
- Deficiência de anticorpo específico
- Hipoesplenismo
- Deficiência do complemento
More DifferentialsGuidelines
- Practical guidance for the diagnosis and management of secondary hypogammaglobulinemia: a Work Group report of the AAAAI Primary Immunodeficiency and Altered Immune Response Committees
- Criteria for the clinical use of intravenous immunoglobulin in Australia
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