Possible Causes for Absent Tonsils Agammaglobulinemia Affected boys have a profound defect in B lymphocyte development resulting in severe hypogammaglobulinemia, absence of circulating B cells, small to absent tonsils, no palpable [journals.lww.com] Diagnosis of XLA Diagnosis of XLA or ARA should be considered in patients with recurrent or severe bacterial infections that also have small or absent tonsils and lymph nodes [immunedisease.com] Testing XLA testing is usually recommended for any child with recurrent or severe bacterial infections, particularly if the patient has small or absent tonsils and lymph nodes [rh.perkinelmer.com] X-Linked Agammaglobulinemia Type 1 tonsils, adenoids and lymph nodes) Common laboratory features: Hypogammaglobulinemia (markedly low IgG that becomes apparent after the loss of maternal antibodies as well [seattlechildrens.org] Diagnosis of XLA Diagnosis of XLA or ARA should be considered in patients with recurrent or severe bacterial infections that also have small or absent tonsils and lymph nodes [immunedisease.com] Patients with XLA have recurrent infections and physical examination have absent lymph nodes and tonsils. [ncbi.nlm.nih.gov] Severe Combined Immunodeficiency […] combined immunodeficiency to have no unusual findings at all, some typical presenting features include recurrent, severe or opportunistic infections, failure to thrive, absent [cmaj.ca] […] lymphatic tissue, including tonsils and thymus Evaluation Diagnosis often delayed due to maternal IgG protecting baby in first few months of life ↓ Lymphocyte count (< 3000 [medbullets.com] tonsils and lack of peripheral lymph nodes.12,13 Affected infants may experience viral, fungal or bacterial infections, most commonly oral candidiasis, viral illnesses (particularly [cmaj.ca] Ataxia-Telangiectasia Syndrome The exam may show signs of the following: Tonsils, lymph nodes, and spleen below normal size Decreased to absent deep tendon reflexes Delayed or absent physical and sexual [nlm.nih.gov] Congenital Agammaglobulinemia Diagnosis of XLA Diagnosis of XLA or ARA should be considered in patients with recurrent or severe bacterial infections that also have small or absent tonsils and lymph nodes [immunedisease.com] tonsils and lymph nodes. [primaryimmune.org] This includes recurrent bacterial infections occurring at an early age, small or absent tonsils and lymph nodes on physical examination and very low levels of immunoglobulins [invitae.com] Autosomal Agammaglobulinemia tonsils and lymph nodes. [primaryimmune.org] This includes recurrent bacterial infections occurring at an early age, small or absent tonsils and lymph nodes on physical examination and very low levels of immunoglobulins [invitae.com] Because the physical exam provides a clue to the diagnosis of the condition - unusually small or absent cervical lymph nodes and tonsils - it should be possible to make an [journals.lww.com] X-Linked Agammaglobulinemia Type 2 tonsils and lymph nodes. [primaryimmune.org] This includes recurrent bacterial infections occurring at an early age, small or absent tonsils and lymph nodes on physical examination and very low levels of immunoglobulins [invitae.com] His tonsils were absent. He had no male sibling in the family and his female sibling was normal. [bmcpediatr.biomedcentral.com] Adenosine Deaminase Deficiency Other symptoms include skin rashes, absent tonsils and lymph nodes, bone abnormalities, and developmental delay .[2][4] Approximately 10-15% of people with ADA deficiency [rarediseases.info.nih.gov] Showing of 43 | Medical Terms Other Names Learn More: HPO ID 30%-79% of people have these symptoms Absence of lymph node germinal center 0002849 Absent tonsils 0030813 Allergy [rarediseases.info.nih.gov] tonsils or lymph nodes, and low levels of the adenosine deaminase enzyme. [rarediseases.info.nih.gov] Autosomal Dominant Agammaglobulinemia Type 5 tonsils and lymph nodes. [primaryimmune.org] This includes recurrent bacterial infections occurring at an early age, small or absent tonsils and lymph nodes on physical examination and very low levels of immunoglobulins [invitae.com] The immunologist likely would screen by examining whether the patient’s tonsils and lymph nodes are small or absent. [columbiadoctors.org] Jaberi-Elahi Syndrome tonsils ORPHA:276 Symptomatic Form Of Fragile X Syndrome In Female Carriers Self-injurious behavior, Hyperactivity, Anxiety, Attention deficit hyperactivity disorder, Aggres [mousephenotype.org] Hyperactivity, Aggressive behavior, Progressive language deterioration OMIM:610042 T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency Lymph node hypoplasia, Absent [mousephenotype.org] Combined Immunodeficiency due to CD3-Gamma Deficiency The doctor will notice that inspite of serious infections, the child has no glands enlarged and tonsils are also absent (Lymph nodes and tonsils are where the lymphocytes [pediatriconcall.com] Thymus-dependent areas of the spleen are depleted of lymphocytes in SCID patients, and lymph nodes, tonsils, adenoids, and Peyer’s patches are absent or extremely underdeveloped [musculoskeletalkey.com] The lack of visible tonsils or palpable lymph nodes can likewise be rapidly assessable clues pointing towards SCID (McWilliams, Railey, and Buckley 2015 ). [thewinnower.com] Severe Combined Immunodeficiency due to Adenosine Deaminase Deficiency Other symptoms include skin rashes, absent tonsils and lymph nodes, bone abnormalities, and developmental delay. [2] [4] Approximately 10-15% of people with ADA deficiency [rarediseases.info.nih.gov] The doctor will notice that inspite of serious infections, the child has no glands enlarged and tonsils are also absent (Lymph nodes and tonsils are where the lymphocytes [pediatriconcall.com] […] lymphatic tissue, including tonsils and thymus Evaluation Diagnosis often delayed due to maternal IgG protecting baby in first few months of life ↓ Lymphocyte count (< 3000 [medbullets.com] X-Linked Severe Combined Immunodeficiency The clinical presentation during the first year of life almost universally includes failure to thrive, oral/diaper candidiasis, recurrent infections, absent tonsils and lymph [genedx.com] Many infants with X-linked SCID develop chronic diarrhea, candidiasis, skin rashes, failure to thrive, and absent tonsils and lymph nodes. [invitae.com] tonsils and lymph nodes ; recurrent, persistent infections; rashes; diarrhea; fevers; and pneumonia. [rarediseases.info.nih.gov] Autosomal Recessive Agammaglobulinemia Type 4 Diagnosis of XLA Diagnosis of XLA or ARA should be considered in patients with recurrent or severe bacterial infections that also have small or absent tonsils and lymph nodes [immunedisease.com] tonsils and lymph nodes. [primaryimmune.org] /scant lymphoid tissues (tonsils/lymph nodes) Evaluation Diagnosis based on family history, clinical history, and exam Serologies ↓ all classes of Ig ↓ levels of B-cells normal [medbullets.com] Primary Immune Deficiency Disorder Features of SCID • Absent tonsils • Small or absent lymph nodes • Absent thymic shadow • Lymphopenias • Decreased Number of T cells • Severe agammaglobulinemia (Swiss type [slideshare.net] </li></ul><ul><li>He had triangular facies, tonsils were absent and no BCG scar was seen. </li></ul><ul><li>There was no rash, lymphadenopathy or organomegaly. [slideshare.net] Affected males usually present within the first 2 years of life with recurrent sinopulmonary infections and absent lymph nodes and tonsils [5,9]. [ncbi.nlm.nih.gov] Muscular Dystrophy-Dystroglycanopathy Type A11 OMIM:604777 Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Absent tonsils, Lymph node hypoplasia, Aplasia of the thymus OMIM:602450 Immunodeficiency [mousephenotype.org] tonsils, B lymphocytopenia, Lymp... [mousephenotype.org] Hepatomegaly, Anemia, Lymphadenopathy ORPHA:37748 Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency T lymphocytopenia, Absence of lymph node germinal center, Absent [mousephenotype.org] Congenital Velopharyngeal Incompetence Convert to ICD-10-CM : 750.29 converts directly to: 2015/16 ICD-10-CM Q38.8 Other congenital malformations of pharynx Approximate Synonyms Absent tonsils Asymmetric tonsils [icd9data.com] Autosomal Recessive Agammaglobulinemia Type 3 tonsils and lymph nodes. [primaryimmune.org] /scant lymphoid tissues (tonsils/lymph nodes) Evaluation Diagnosis based on family history, clinical history, and exam Serologies ↓ all classes of Ig ↓ levels of B-cells normal [medbullets.com] On close examination, the tonsils were found to be absent and there was no peripheral lymphadenopathy. [f1000research.com] Rhizomelic Dysplasia - Scoliosis - Retinitis Pigmentosa Boys with XSCID also have failure to grow at the normal rate, absent tonsils and lymph nodes, gastrointestinal malabsorption (failure of the GI tract to absorb certain nutrients [natera.com] Lymphopenia However, findings of an associated disorder may include Absent or diminished tonsils or lymph nodes, indicative of cellular immunodeficiency Skin abnormalities (eg, alopecia [msdmanuals.com] Congenital AIDS Reduced or absent tonsils and lymph nodes occur in severe B-cell or combined immunodeficiency disorders, although normal infants may often have difficult-to-palpate lymph [racgp.org.au] […] or low levels of B cells (marked by CD19, CD20, and CD21) Normal or high T cells Absent lymphoid tissue (e.g., tonsils) Treatment IV immunoglobulins Prophylactic antibiotics [amboss.com] Immunodeficiency disorders occur when the body's immune response is reduced or absent. [medlineplus.gov] Benign Neoplasm of the Breast tonsils and lymph nodes. [primaryimmune.org] tonsils and lymph nodes, recurrent infections, infections with opportunistic organisms such as Pneumocystis, and persistence of infections despite conventional treatment. [ncbi.nlm.nih.gov] The spleen, the tonsils, the adenoids, the Peyer patches in the intestines, and the peripheral lymph nodes may all be reduced in size or absent in individuals with X-linked [emedicine.medscape.com] Complement Factor D Deficiency […] lymph nodes or tonsils Skin lesions: telangiectasias, petechiae, dermatomyositis, lupus-like rash Ataxia (with ataxia-telangiectasia) Oral thrush after one year of age Oral [aafp.org] […] may be absent Diagnosis Quantitative PCR : ↓ T-cell receptor excision circles ( TRECs ) Absent T cells CXR : absence of thymic shadow Lymph node biopsy : absence of germinal [amboss.com] […] antibiotic therapyto clear infection Infections with unusual or opportunisticorganisms Family history of primary immunodeficiency Physical signs Poor growth, failure to thrive Absent [aafp.org] Chromosome Y Structural Anomaly […] or small adenoids and absent or small tonsils. [rarediseases.org] […] abdominal region (inguinal or umbilical hernia) • Failure of the testes to descend into the scrotum in males (cryptorchidism) • Differences in the structure of the kidneys • Absent [rarediseases.org] Immunodeficiency Type 31C B cells in peripheral blood decrease in all classes of Ig absent/scanty LN & tonsils cause of selective IgA deficiency unknown, most common primary immunodeficiency how does [quizlet.com] […] may be absent Diagnosis Quantitative PCR : ↓ T-cell receptor excision circles ( TRECs ) Absent T cells CXR : absence of thymic shadow Lymph node biopsy : absence of germinal [amboss.com] Bruton) agammaglobulenimia presented recurrent bacterial and enteroviral infections after 6 months (decrease maternal IgG) diagnostics of x-linked (Bruton) agammaglobulenima absent [quizlet.com] Lymphoproliferative Syndrome 1 tonsils Pica X-linked inheritance Irritability Neoplasm of the stomach Acanthoma Hereditary nonpolyposis colorectal carcinoma Folliculitis Hepatitis Colitis Acne Inflammation [mendelian.co] […] polyp Endometrial carcinoma Hyperlipidemia Carcinoma Nevus Perianal abscess Hypofibrinogenemia Dysgammaglobulinemia Erythema nodosum Genital ulcers Hypertriglyceridemia Absent [mendelian.co] Lingual Tonsillitis Previous Palatine Tonsillectomy and Adenoidectomy The subjects were divided into those who had undergone tonsillectomy and adenoidectomy with absent palatine tonsils and V-shaped [ajronline.org] Hypertrophy of the tonsils often combined with Palatine tonsil hypertrophy. Hypertrophic tonsils in children inflammatory changes in the most cases absent. [medicalency.com] They are inconsistent in their presence and are most typically absent in adults. [accessanesthesiology.mhmedical.com] Nijmegen Breakage Syndrome-Like Disorder Clinical signs may include oral thrush, diarrhea, fever, pneumonia, failure to thrive, lymphopenia, hypogammaglobulinemia, and absent tonsils and lymph nodes. [bredagenetics.com] Chromosome 19q13.11 Deletion Syndrome […] or small adenoids and absent or small tonsils. [rarediseases.org] […] abdominal region (inguinal or umbilical hernia) • Failure of the testes to descend into the scrotum in males (cryptorchidism) • Differences in the structure of the kidneys • Absent [rarediseases.org] Complement Factor I Deficiency […] may be absent Diagnosis Quantitative PCR : ↓ T-cell receptor excision circles ( TRECs ) Absent T cells CXR : absence of thymic shadow Lymph node biopsy : absence of germinal [amboss.com] Clinical presentation Normal at birth Severe, recurrent infections : bacterial diarrhea, chronic candidiasis, viral, and protozoal infections Failure to thrive Lymph nodes and tonsils [amboss.com]
